Publikationen mit Erst- oder Seniorautorschaft

Ahting S, Forstner A, Korte M, Krey I, Maier F, Meyer R, Rey-Thol L, Schnabel F (2022). Die GfH-Juniorakademie 2022 - #GfHJAK22. Medizinische Genetik 2022; 34 (4): 309-312

Burk J, Sassmann A, Kasper C, Nimptsch A, Schubert S (2022). Extracellular Matrix Synthesis and Remodeling by Mesenchymal Stromal Cells Is Context-Sensitive. Int J Mol Sci 2022; 23(3): 1758

de Witte CJ*, Kutzera J*, van Hoeck A, Nguyen L, Boere IA, Jalving M, Ottevanger PB, van Schaik-van de Mheen C, Stevense M, Kloosterman WP, Zweemer RP, Cuppen E, Witteveen PO (2022). Distinct Genomic Profiles Are Associated with Treatment Response and Survival in Ovarian Cancer. Cancers (Basel) 2022; 14(6): 1511

Jauss RT, Schließke S, Abou Jamra R (2022). Routine Diagnostics Confirm Novel Neurodevelopmental Disorders. Genes 2022; 13(12): 2305

Klau J, Abou Jamra R, Radtke M, Oppermann H, Lemke JR, Beblo S, Popp B (2022). Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders. Eur J Hum Genet 2022; 30(1): 117-125

Klöckner C, Fernández-Murray JP, Tavasoli M, Sticht H, Stoltenburg-Didinger G, Scholle LM, Bakhtiari S, Kruer MC, Darvish H, Firouzabadi SG, Pagnozzi A, Shukla A, Girisha KM, Narayanan DL, Kaur P, Maroofian R, Zaki MS, Noureldeen MM, Merkenschlager A, Gburek-Augustat J, Cali E, Banu S, Nahar K, Efthymiou S, Houlden H, Jamra RA, Williams J, McMaster CR, Platzer K (2022). Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly. Brain 2022; 145(6): 1916-1923

Krasselt M, Baerwald C (2022). [Osteoarthritis: whats new?]. Dtsch Med Wochenschr 2022; 147(6): 344-348

Krey I, Johannesen KM, Lemke JR (2022). Genetic testing in adults with developmental and epileptic encephalopathy ? What do we know? Medizinische Genetik 2022; 34(3): 207-213

Krey I, Meyer R, Tecklenburg J (2022). Das klinische Jahr in der Humangenetik Zeit für eine Neuauflage: Perspektiven aus der Jungen Humangenetik. Medizinische Genetik 2022; 34(3): 163-165

Krey I, Platzer K, Esterhuizen A, Berkovic SF, Helbig I, Hildebrand MS, Lerche H, Lowenstein D, Møller RS, Poduri A, Sadleir L, Sisodiya SM, Weckhuysen S, Wilmshurst JM, Weber Y, Lemke JR, Berkovic SF, Cross JH, Helbig I, Lerche H, Lowenstein D, Mefford HC, Perucca P, Tan NC, Caglayan H, Helbig K, Singh G, Weber Y, Weckhuysen S (2022). Current practice in diagnostic genetic testing of the epilepsies. Epileptic Disord 2022; 24(5): 765-786

Krey I, Platzer K, Lemke JR (2022). Monogenetic epilepsies and how to approach them in 2022. Medizinische Genetik 2022; 34(3): 201-205

Krey I, von Spiczak S, Johannesen KM, Hikel C, Kurlemann G, Muhle H, Beysen D, Dietel T, Møller RS, Lemke JR, Syrbe S (2022). L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants. Neurotherapeutics 2022; 19(1): 334-341

Körner MB, Velluva A, Bundalian L, Radtke M, Lin CC, Zacher P, Bartolomaeus T, Kirstein AS, Mrestani A, Scholz N, Platzer K, Teichmann AC, Hentschel J, Langenhan T, Lemke JR, Garten A, Abou Jamra R, Le Duc D (2022). Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion. Sci Rep 2022; 12(1): 13507

Körner MB, Velluva A, Bundalian L, Radtke M, Lin CC, Zacher P, Bartolomaeus T, Kirstein AS, Mrestani A, Scholz N, Platzer K, Teichmann AC, Hentschel J, Langenhan T, Lemke JR, Garten A, Abou Jamra R, Le Duc D (2022). Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion. Sci Rep 2022; 12(1): 13507

Le Duc D, Velluva A, Cassatt-Johnstone M, Olsen RA, Baleka S, Lin CC, Lemke JR, Southon JR, Burdin A, Wang MS, Grunewald S, Rosendahl W, Joger U, Rutschmann S, Hildebrandt TB, Fritsch G, Estes JA, Kelso J, Dalén L, Hofreiter M, Shapiro B, Schöneberg T (2022). Genomic basis for skin phenotype and cold adaptation in the extinct Stellers sea cow. Sci Adv 2022; 8(5): eabl6496

Lemke JR (2022). Editorial: Epilepsy and genetics. Medizinische Genetik 2022; 34(3): 199-200

Lemke JR, Passarge E (2022). Nachruf Prof.Dr.med. Herbert Theile (1930-2022). Medizinische Genetik 2022; 34(3): 241-241

Lieberwirth JK, Büttner B, Klöckner C, Platzer K, Popp B, Abou Jamra R (2022). AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders. Hum Mutat 2022; 43(12): 1795-1807

Mertens M, Schumann, I, Stiller M, Lemke JR, Strehlow V, Hentschel J (2022). Genetische Tumorprädispositionssyndrome. Die Onkologie 2022; 28 (6): 534-545

Münch J, Engesser M, Schönauer R, Hamm JA, Hartig C, Hantmann E, Akay G, Pehlivan D, Mitani T, Coban Akdemir Z, Tüysüz B, Shirakawa T, Dateki S, Claus LR, van Eerde AM, Smol T, Devisme L, Franquet H, Attié-Bitach T, Wagner T, Bergmann C, Höhn AK, Shril S, Pollack A, Wenger T, Scott AA, Paolucci S, Buchan J, Gabriel GC, Posey JE, Lupski JR, Petit F, McCarthy AA, Pazour GJ, Lo CW, Popp B*, Halbritter J* (2022). Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract. Kidney Int 2022; 101(5): 1039-1053

Neuser S, Krey I, Schwan A, Abou Jamra R, Bartolomaeus T, Döring J, Syrbe S, Plassmann M, Rohde S, Roth C, Rehder H, Radtke M, Le Duc D, Schubert S, Bermúdez-Guzmán L, Leal A, Schoner K, Popp B (2022). Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain. Eur J Hum Genet 2022; 30(1): 101-110

Platzer K, Sticht H, Bupp C, Ganapathi M, Pereira EM, Le Guyader G, Bilan F, Henderson LB, Lemke JR, Taschenberger H, Brose N, Abou Jamra R, Wojcik SM (2022). De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission. Ann Neurol 2022; 92(6): 958-973

Popp B, Bienvenu T, Giurgea I, Metreau J, Kraus C, Reis A, Fischer J, Bralo MP, Tenorio-Castaño J, Lapunzina P, Almoguera B, Lopez-Grondona F, Sticht H, Zweier C (2022). The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome. Clin Genet 2022; 102(6): 517-523

Popp B, Ekici AB, Knaup KX, Schneider K, Uebe S, Park J, Bafna V, Meiselbach H, Eckardt KU, Schiffer M, Reis A, Kraus C, Wiesener M (2022). Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study. Eur J Hum Genet 2022; 30(12): 1413-1422

Rahimi MJ, Urban N, Wegler M, Sticht H, Schaefer M, Popp B, Gaunitz F, Morleo M, Nigro V, Maitz S, Mancini GMS, Ruivenkamp C, Suk EK, Bartolomaeus T, Merkenschlager A, Koboldt D, Bartholomew D, Stegmann APA, Sinnema M, Duynisveld I, Salvarinova R, Race S, de Vries BBA, Trimouille A, Naudion S, Marom D, Hamiel U, Henig N, Demurger F, Rahner N, Bartels E, Hamm JA, Putnam AM, Person R, Abou Jamra R, Oppermann H (2022). De novo variants in ATP2B1 lead to neurodevelopmental delay. Am J ​Hum Genet 2022;109(5): 944-952

Rosenhahn E, O Brien TJ, Zaki MS, Sorge I, Wieczorek D, Rostasy K, Vitobello A, Nambot S, Alkuraya FS, Hashem MO, Alhashem A, Tabarki B, Alamri AS, Al Safar AH, Bubshait DK, Alahmady NF, Gleeson JG, Abdel-Hamid MS, Lesko N, Ygberg S, Correia SP, Wredenberg A, Alavi S, Seyedhassani SM, Ebrahimi Nasab M, Hussien H, Omar TEI, Harzallah I, Touraine R, Tajsharghi H, Morsy H, Houlden H, Shahrooei M, Ghavideldarestani M, Abdel-Salam GMH, Torella A, Zanobio M, Terrone G, et al. (2022). Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications. Am J Hum Genet 2022; 109(8): 1421-1435

Seidel EC, Birkemeyer C, Baran-Schmidt R, Meixensberger J, Oppermann H*, Gaunitz F* (2022). Viability of Glioblastoma Cells and Fibroblasts in the Presence of Imidazole-Containing Compounds. Int J Mol Sci 2022; 23(10): 5834

Strehlow V, Rieubland C, Gallati S, Kim S, Myers SJ, Peterson V, Ramsey AJ, Teuscher DD, Traynelis SF, Lemke JR (2022). Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy. Epilepsia 2022; 63(10): e132-e137

Wegler M, Jia X, Alders M, Bouman A, Chen J, Duan X, Lauzon JL, Mathijssen IB, Sticht H, Syrbe S, Tan S, Guo H, Abou Jamra R (2022). De novo variants in the PABP domain of PABPC1 lead to developmental delay. Genet Med 2022; 24(8): 1761-1773

Publikationen mit Koautorschaft

Ahmadi M, Herting A, Mueffelmann B, Woermann FG, Abou Jamra R, Bien CG, Polster T, Brandt C (2022). Hypochondroplasia and temporal lobe epilepsy - A series of 4 cases. Epilepsy Behav 2022; 126(): 108479

Ahring PK, Liao VWY, Gardella E, Johannesen KM, Krey I, Selmer KK, Stadheim BF, Davis H, Peinhardt C, Koko M, Coorg RK, Syrbe S, Bertsche A, Santiago-Sim T, Diemer T, Fenger CD, Platzer K, Eichler EE, Lerche H, Lemke JR, Chebib M, Møller RS (2022). Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy. Brain 2022; 145(4): 1299-1309

Bachmann M, Wensch-Dorendorf M, Kuhnitzsch C, Kleinsteuber S, Popp D, Thierbach A, Martens SD, Steinhöfel O, Zeyner A (2022). Changes in Composition and Diversity of Epiphytic Microorganisms on Field Pea Seeds, Partial Crop Peas, and Whole Crop Peas during Maturation and Ensiling with or without Lactic Acid Bacteria Inoculant. Microbiol Spectr 2022; 10(4): 0095322

Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A, Derksen A, Dure L, Gantz E, Koch-Hogrebe M, Hurst ACE, Mahida S, Marshall P, Micalizzi A, Novelli A, Peng H, Rodriguez D, Robbins SL, Rutledge SL, Scalise R, Schließke S, Shashi V, Srivastava S, Thiffault I, Topol S, Qebibo L, Wieczorek D, Cravatt B, Haricharan S, Torkamani A, Friedman J (2022). Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome. Brain 2022; 145(10): 3383-3390

Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg Å, Bozsik A, Brady AF, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldés T, Caligo MA, Campbell I, Cassingham H, Christensen LL, Cini G, Claes KBM, Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De (2022). Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. J Natl Cancer Inst 2022; 114(1): 109-122

Barth LAG, Nebe M, Kalwa H, Velluva A, Kehr S, Kolbig F, Prabutzki P, Kiess W, Le Duc D, Garten A, Kirstein AS (2022). Phospholipid Scramblase 4 (PLSCR4) Regulates Adipocyte Differentiation via PIP3-Mediated AKT Activation. Int J Mol Sci 2022; 23(17): 9787

Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Sa (2022). PIGN encephalopathy: Characterizing the epileptology. Epilepsia 2022; 63(4): 974-991

Bemmerlein L, Deniz IA, Karbanová J, Jacobi A, Drukewitz S, Link T, Göbel A, Sevenich L, Taubenberger AV, Wimberger P, Kuhlmann JD, Corbeil D (2022). Decoding Single Cell Morphology in Osteotropic Breast Cancer Cells for Dissecting Their Migratory, Molecular and Biophysical Heterogeneity. Cancers (Basel) 2022; 14(3): 603

Borde J, Laitman Y, Blümcke B, Niederacher D, Weber-Lassalle K, Sutter C, Rump A, Arnold N, Wang-Gohrke S, Horváth J, Gehrig A, Schmidt G, Dutrannoy V, Ramser J, Hentschel J, Meindl A, Schroeder C, Wappenschmidt B, Engel C, Kuchenbaecker K, Schmutzler RK, Friedman E, Hahnen E, Ernst C (2022). Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers. BMC Cancer 2022; 22(1): 706

Bozan M, Popp D, Kallies R, da Rocha UN, Klähn S, Bühler K (2022). Whole-genome sequence of the filamentous diazotrophic cyanobacterium Tolypothrix sp. PCC 7712 and its comparison with non-diazotrophic Tolypothrix sp. PCC 7601. Front Microbiol 2022; 13(): 1042437

Bögershausen N, Krawczyk HE, Jamra RA, Lin SJ, Yigit G, Hüning I, Polo AM, Vona B, Huang K, Schmidt J, Altmüller J, Luppe J, Platzer K, Dörgeloh BB, Busche A, Biskup S, Mendes MI, Smith DEC, Salomons GS, Zibat A, Bültmann E, Nürnberg P, Spielmann M, Lemke JR, Li Y, Zenker M, Varshney GK, Hillen HS, Kratz CP, Wollnik B (2022). WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly. Hum Mutat 2022; 43(10): 1454-1471

Böhme M, Desch S, Rosolowski M, Scholz M, Krohn K, Büttner P, Cross M, Kirchberg J, Rommel KP, Pöss J, Freund A, Baber R, Isermann B, Ceglarek U, Metzeler KH, Platzbecker U, Thiele H (2022). Impact of Clonal Hematopoiesis in Patients With Cardiogenic Shock Complicating Acute Myocardial Infarction. J Am Coll Cardiol 2022; 80(16): 1545-1556

Böker V, Häußler J, Baumann J, Sunami Y, Trojanowicz B, Harwardt B, Hammje K, von Auw N, Erkan M, Krohn K, Kleeff J (2022). Analysis of genomic alterations in cancer associated human pancreatic stellate cells. Sci Rep 2022; 12(1): 13532

Bölsterli BK, Boltshauser E, Palmieri L, Spenger J, Brunner-Krainz M, Distelmaier F, Freisinger P, Geis T, Gropman AL, Häberle J, Hentschel J, Jeandidier B, Karall D, Keren B, Klabunde-Cherwon A, Konstantopoulou V, Kottke R, Lasorsa FM, Makowski C, Mignot C, O'Gorman Tuura R, Porcelli V, Santer R, Sen K, Steinbrücker K, Syrbe S, Wagner M, Ziegler A, Zöggeler T, Mayr JA, Prokisch H, Wortmann SB (2022). Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier. Nutrients 2022; 14(17): 3605

Castaneda AB, Petty LE, Scholz M, Jansen R, Weiss S, Zhang X, Schramm K, Beutner F, Kirsten H, Schminke U, Hwang SJ, Marzi C, Dhana K, Seldenrijk A, Krohn K, Homuth G, Wolf P, Peters MJ, Dörr M, Peters A, van Meurs JBJ, Uitterlinden AG, Kavousi M, Levy D, Herder C, van Grootheest G, Waldenberger M, Meisinger C, Rathmann W, Thiery J, Polak J, Koenig W, Seissler J, Bis JC, Franceshini N, Giambartolomei C, Hofman A, Franco OH, Penninx BWJH, Prokisch H, Völzke H, Loeffler M, O'Donnell CJ, Below JE, (2022). Associations of carotid intima media thickness with gene expression in whole blood and genetically predicted gene expression across 48 tissues. Hum Mol Genet 2022; 31(7): 1171-1182

Cediel ML, Stawarski M, Blanc X, Nosková L, Magner M, Platzer K, Gburek-Augustat J, Baldridge D, Constantino JN, Ranza E, Bettler B, Antonarakis SE (2022). GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy. Am J Hum Genet 2022; 109(10): 1885-1893

Chen SC, Ji J, Popp D, Jaekel U, Richnow HH, Sievert SM, Musat F (2022). Genome and proteome analyses show the gaseous alkane degrader Desulfosarcina sp. strain BuS5 as an extreme metabolic specialist. Environ Microbiol 2022; 24(4): 1964-1976

Cousin MA, Veale EL, Dsouza NR, Tripathi S, Holden RG, Arelin M, Beek G, Bekheirnia MR, Beygo J, Bhambhani V, Bialer M, Bigoni S, Boelman C, Carmichael J, Courtin T, Cogne B, Dabaj I, Doummar D, Fazilleau L, Ferlini A, Gavrilova RH, Graham JM Jr, Haack TB, Juusola J, Kant SG, Kayani S, Keren B, Ketteler P, Klöckner C, Koopmann TT, Kruisselbrink TM, Kuechler A, Lambert L, Latypova X, Lebel RR, Leduc MS, Leonardi E, Lewis AM, Liew W, Machol K, Mardini S, McWalter K, Mignot C, McLaughlin J, Murgia (2022). Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. Genome Med 2022; 14(1): 62

Dumont M, Weber-Lassalle N, Joly-Beauparlant C, Ernst C, Droit A, Feng BJ, Dubois S, Collin-Deschesnes AC, Soucy P, Vallée M, Fournier F, Lemaçon A, Adank MA, Allen J, Altmüller J, Arnold N, Ausems MGEM, Berutti R, Bolla MK, Bull S, Carvalho S, Cornelissen S, Dufault MR, Dunning AM, Engel C, Gehrig A, Geurts-Giele WRR, Gieger C, Green J, Hackmann K, Helmy M, Hentschel J, Hogervorst FBL, Hollestelle A, Hooning MJ, Horváth J, Ikram MA, Kaulfuß S, Keeman R, Kuang D, Luccarini C, Maier W, Martens JW (2022). Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry. Cancers (Basel) 2022; 14(14): 3363

Döring JH, Saffari A, Bast T, Brockmann K, Ehrhardt L, Fazeli W, Janzarik WG, Klabunde-Cherwon A, Kluger G, Muhle H, Pendziwiat M, Møller RS, Platzer K, Santos JL, Schröter J, Hoffmann GF, Kölker S, Syrbe S (2022). Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy. Neurol Genet 2022; 8(5): 200020

Erdmann N, Schilling T, Hentschel J, Lehmann T, von Bismarck P, Ankermann T, Duckstein F, Baier M, Zagoya C, Mainz JG (2022). Divergent dynamics of inflammatory mediators and multiplex PCRs during airway infection in cystic fibrosis patients and healthy controls: Serial upper airway sampling by nasal lavage. Front Immunol 2022; 13(): 947359

Gburek-Augustat J, Platzer K, Schumann I, Starke S, Hershfield MS, Sorge I, Merkenschlager A (2022). Case Report: Deficiency of Adenosine Deaminase 2 (DADA2) as a Cause of Brainstem Stroke in a 3-Year-Old Girl and the Importance of Early Fast-Track Genetic Diagnostics to Influence Therapy. Neuropediatrics 2022; 53(6): 432-435

Green TE, Schimmel M, Schubert S, Lemke JR, Bennett MF, Hildebrand MS, Berkovic SF (2022). Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome. Eur J Hum Genet 2022; 30(3): 384-388

Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, Lemke JR, Bernat JA, Bombei HM, Foulds N, Hunt D, Kuechler A, Beygo J, Stöbe P, Bouman A, Palomares-Bralo M, Santos-Simarro F, Garcia-Minaur S, Pacio-Miguez M, Popp B, Vasileiou G, Hebebrand M, Reis A, Schuhmann S, Krumbiegel M, Brown NJ, Sparber P, Melikyan L, Bessonova L, Cherevatova T, Sharkov A, Shcherbakova N, Dabir T, Kini U, Schwaibold EMC, Haack TB, Bertoli M, Hoffjan S, Falb R, Shinawi M, Sticht H, Zweier C (2022). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Hum Mol Genet 2022; 31(3): 440-454

Grohmann-Held K, Burgard P, Baerwald CGO, Beblo S, Vom Dahl S, Das A, Dokoupil K, Fleissner S, Freisinger P, Heddrich-Ellerbrok M, Jung A, Korpel V, Krämer J, Lier D, Maier EM, Meyer U, Mühlhausen C, Newger M, Och U, Plöckinger U, Rosenbaum-Fabian S, Rutsch F, Santer R, Schick P, Schwarz M, Spiekerkötter U, Strittmatter U, Thiele AG, Ziagaki A, Mütze U, Gleich F, Garbade SF, Kölker S (2022). Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria. J Inherit Metab Dis 2022; 45(6): 1070-1081

Götze KJ, Mrestani A, Beckmann P, Krohn K, Le Duc D, Velluva A, Böhme MA, Heckmann M, Abou Jamra R, Lemke JR, Bläker H, Scholz N, Ljaschenko D, Langenhan T (2022). Improving one-step scarless genome editing in Drosophila melanogaster by combining ovo(D) co-CRISPR selection with sgRNA target site masking. Biol Methods Protoc 2022; 7(1): 003

Hakkaart C, Pearson JF, Marquart L, Dennis J, Wiggins GAR, Barnes DR, Robinson BA, Mace PD, Aittomäki K, Andrulis IL, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Belhadj S, Berger L, Blok MJ, Boonen SE, Borde J, Bradbury AR, Brunet J, Buys SS, Caligo MA, Campbell I, Chung WK, Claes KBM, Collonge-Rame MA, Cook J, Cosgrove C, Couch FJ, Daly MB, Dandiker S, Davidson R, de la Hoya M, de Putter R, Delnatte C, Dhawan M, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Easton DF, Ehrencrona H, (2022). Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers. Commun Biol 2022; 5(1): 1061

Heianza Y, Krohn K, Xue Q, Yaskolka Meir A, Ziesche S, Ceglarek U, Blüher M, Keller M, Kovacs P, Shai I, Qi L (2022). Changes in circulating microRNAs-99/100 and reductions of visceral and ectopic fat depots in response to lifestyle interventions: the CENTRAL trial. Am J Clin Nutr 2022; 116(1): 165-172

Heianza Y, Krohn K, Yaskolka Meir A, Wang X, Ziesche S, Ceglarek U, Blüher M, Keller M, Kovacs P, Shai I, Qi L (2022). Changes in Circulating miR-375-3p and Improvements in Visceral and Hepatic Fat Contents in Response to Lifestyle Interventions: The CENTRAL Trial. Diabetes Care 2022; 45(8): 1911-1913

Helm J, Drukewitz S, Poser I, Richter S, Friedemann M, William D, Mohr H, Nölting S, Robledo M, Bornstein SR, Eisenhofer G, Bechmann N (2022). Treatment of Pheochromocytoma Cells with Recurrent Cycles of Hypoxia: A New Pseudohypoxic In Vitro Model. Cells 2022; 11(3): 560

Hennig A, Baenke F, Klimova A, Drukewitz S, Jahnke B, Brückmann S, Secci R, Winter C, Schmäche T, Seidlitz T, Bereuter JP, Polster H, Eckhardt L, Schneider SA, Brückner S, Schmelz R, Babatz J, Kahlert C, Distler M, Hampe J, Reichert M, Zeißig S, Folprecht G, Weitz J, Aust D, Welsch T, Stange DE (2022). Detecting drug resistance in pancreatic cancer organoids guides optimized chemotherapy treatment. J Pathol 2022; 257(5): 607-619

Hönemann M, Viehweger A, Dietze N, Johnke J, Rodloff AC (2022). Leclercia pneumoniae sp. nov., a bacterium isolated from clinical specimen in Leipzig, Germany. Int J Syst Evol Microbiol 2022; 72(3): 0000

Jahn A, Rump A, Widmann TJ, Heining C, Horak P, Hutter B, Paramasivam N, Uhrig S, Gieldon L, Drukewitz S, Kübler A, Bermudez M, Hackmann K, Porrmann J, Wagner J, Arlt M, Franke M, Fischer J, Kowalzyk Z, William D, Weth V, Oster S, Fröhlich M, Hüllein J, Valle González C, Kreutzfeldt S, Mock A, Heilig CE, Lipka DB, Möhrmann L, Hanf D, Ole? M, Teleanu V, Allgäuer M, Ruhnke L, Kutz O, Knurr A, Laßmann A, Endris V, Neumann O, Penzel R, Beck K, Richter D, Winter U, Wolf S, Pfütze K, Geörg C, Meißburg (2022). Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers. Ann Oncol 2022; 33(11): 1186-1199

Johannesen KM, Iqbal S, Guazzi M, Mohammadi NA, Pérez-Palma E, Schaefer E, De Saint Martin A, Abiwarde MT, McTague A, Pons R, Piton A, Kurian MA, Ambegaonkar G, Firth H, Sanchis-Juan A, Deprez M, Jansen K, De Waele L, Briltra EH, Verbeek NE, van Kempen M, Fazeli W, Striano P, Zara F, Visser G, Braakman HMH, Haeusler M, Elbracht M, Vaher U, Smol T, Lemke JR, Platzer K, Kennedy J, Klein KM, Au PYB, Smyth K, Kaplan J, Thomas M, Dewenter MK, Dinopoulos A, Campbell AJ, Lal D, Lederer D, Liao VWY, Ahr (2022). Structural mapping of GABRB3 variants reveals genotype-phenotype correlations. Genet Med 2022; 24(3): 681-693

Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwa (2022). Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Brain 2022; 145(9): 2991-3009

Kempf E, Landgraf K, Stein R, Hanschkow M, Hilbert A, Abou Jamra R, Boczki P, Herberth G, Kühnapfel A, Tseng YH, Stäubert C, Schöneberg T, Kühnen P, Rayner NW, Zeggini E, Kiess W, Blüher M, Körner A (2022). Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity. Nat Metab 2022; 4(12): 1697-1712

Klein B, Treudler R, Dumann K, Boldt A, Schumann I, Simon JC, Kunz M (2022). Clinical response of CARD14-associated papulosquamous eruption to an anti-interleukin-17A antibody. Br J Dermatol 2022; 187(3): 419-422

Klemp I, Hoffmann A, Müller L, Hagemann T, Horn K, Rohde-Zimmermann K, Tönjes A, Thiery J, Löffler M, Burkhardt R, Böttcher Y, Stumvoll M, Blüher M, Krohn K, Scholz M, Baber R, Franks PW, Kovacs P, Keller M (2022). DNA methylation patterns reflect individual's lifestyle independent of obesity. Clin Transl Med 2022; 12(6): 851

Klöting N, Schwarzer M, Heyne E, Ceglarek U, Hoffmann A, Krohn K, Doenst T, Blüher M (2022). Intrinsic Exercise Capacity Affects Glycine and Angiotensin-Converting Enzyme 2 (ACE2) Levels in Sedentary and Exercise Trained Rats. Metabolites 2022; 12(6): 548

Krasselt M, Baerwald C, Petros S, Seifert O (2022). Sepsis Mortality Is high in Patients With Connective Tissue Diseases Admitted to the Intensive Care Unit (ICU). J Intensive Care Med 2022; 37(3): 401-407

Krasselt M, Baerwald C, Seifert O (2022). COVID-19 Vaccination Coverage in Patients with Rheumatic Diseases in a German Outpatient Clinic: An Observational Study. Vaccines (Basel) 2022; 10(2): 253

Krasselt M, Gruz N, Pierer M, Baerwald C, Wagner U (2022). IL-10 Induced by mTNF Crosslinking-Mediated Reverse Signaling in a Whole Blood Assay Is Predictive of Response to TNFi Therapy in Rheumatoid Arthritis. J Pers Med 2022; 12(6): 1003

Krasselt M, Kippenhahn A, Baerwald C, Pietsch C, Seifert O (2022). Relationship between cytomegalovirus prevalence and markers of disease activity in systemic lupus erythematosus. Rheumatology (Oxford) 2022; 61(3): 1288-1290

Krasselt M, Wagner U, Nguyen P, Pietsch C, Boldt A, Baerwald C, Pierer M, Seifert O (2022). Humoral and cellular response to COVID-19 vaccination in patients with autoimmune inflammatory rheumatic diseases under real-life conditions. Rheumatology (Oxford) 2022; 61(2): 180-188

Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Pari (2022). The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Hum Mutat 2022; 43(2): 266-282

Li S, Silvestri V, Leslie G, Rebbeck TR, Neuhausen SL, Hopper JL, Nielsen HR, Lee A, Yang X, McGuffog L, Parsons MT, Andrulis IL, Arnold N, Belotti M, Borg Å, Buecher B, Buys SS, Caputo SM, Chung WK, Colas C, Colonna SV, Cook J, Daly MB, de la Hoya M, de Pauw A, Delhomelle H, Eason J, Engel C, Evans DG, Faust U, Fehm TN, Fostira F, Fountzilas G, Frone M, Garcia-Barberan V, Garre P, Gauthier-Villars M, Gehrig A, Glendon G, Goldgar DE, Golmard L, Greene MH, Hahnen E, Hamann U, Hanson H, Hassan T, (2022). Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants. J Clin Oncol 2022; 40(14): 1529-1541

Lyse Ruaud, Severine Drunat, Monique Elmaleh-Berges, Anais Ernault, Sophie Guilmin Crepon, MCPH Consortium (2022). Neurological outcome in WDR62 primary microcephaly. Develomental Medicine and Child Neurology 2022; 64(4): 509-517

Marcogliese PC, Deal SL, Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Bhadane P, Huang MC, Longley CM, Chao HT, Chung HL, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, German RJ, Gerard A, Schwaibold EMC, Fehr S, Guerrini R, Vetro A, England E, Murali CN, Barakat TS, van Dooren MF, Wilke M, van Slegtenhorst M, Lesca G, Sabatier I, Chatron N, Brownstein CA, Madden JA, Agrawal PB, Keren B, Courtin T, Perrin L, Brugger M, Roser T (2022). Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Rep 2022; 38(11): 110517

Marquet M, Hölzer M, Pletz MW, Viehweger A, Makarewicz O, Ehricht R, Brandt C (2022). What the Phage: a scalable workflow for the identification and analysis of phage sequences. Gigascience 2022; 11(): 110

Marquet M, Zöllkau J, Pastuschek J, Viehweger A, Schleußner E, Makarewicz O, Pletz MW, Ehricht R, Brandt C (2022). Evaluation of microbiome enrichment and host DNA depletion in human vaginal samples using Oxford Nanopore's adaptive sequencing. Sci Rep 2022; 12(1): 4000

Martín-Hernández GC, Müller B, Brandt C, Hölzer M, Viehweger A, Passoth V (2022). Near Chromosome-Level Genome Assembly and Annotation of Rhodotorula babjevae Strains Reveals High Intraspecific Divergence. J Fungi (Basel) 2022; 8(4): 323Naumann M, Czempiel T, Lößner AJ, Pape K, Beyreuther E, Löck S, Drukewitz S, Hennig A, von Neubeck C, Klink B, Krause M, William D, Stange DE, Bütof R, Dietrich A (2022). Combined Systemic Drug Treatment with Proton Therapy: Investigations on Patient-Derived Organoids. Cancers (Basel) 2022; 14(15): 3781

Nebe M, Kehr S, Schmitz S, Breitfeld J, Lorenz J, Le Duc D, Stadler PF, Meiler J, Kiess W, Garten A, Kirstein AS (2022). Small integral membrane protein 10 like 1 downregulation enhances differentiation of adipose progenitor cells. Biochem Biophys Res Commun 2022; 604(): 57-62

Park J, Bakhtiari M, Popp B, Wiesener M, Bafna V (2022). Detecting tandem repeat variants in coding regions using code-adVNTR. iScience 2022; 25(8): 104785

Remy J, Linder B, Weirauch U, Day BW, Stringer BW, Herold-Mende C, Aigner A, Krohn K, Kögel D (2022). STAT3 Enhances Sensitivity of Glioblastoma to Drug-Induced Autophagy-Dependent Cell Death. Cancers (Basel) 2022; 14(2): 339

Rolfes M, Borde J, Möllenhoff K, Kayali M, Ernst C, Gehrig A, Sutter C, Ramser J, Niederacher D, Horváth J, Arnold N, Meindl A, Auber B, Rump A, Wang-Gohrke S, Ritter J, Hentschel J, Thiele H, Altmüller J, Nürnberg P, Rhiem K, Engel C, Wappenschmidt B, Schmutzler RK, Hahnen E, Hauke J (2022). Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancers (Basel) 2022; 14(13): 3292

Sander C, Oppermann H, Nestler U, Sander K, Fehrenbach MK, Wende T, von Dercks N, Meixensberger J (2022). The Relation of Surgical Procedures and Diagnosis Groups to Unplanned Readmission in Spinal Neurosurgery: A Retrospective Single Center Study. Int J Environ Res Public Health 2022; 19(8): 4795

Schröter J, Popp B, Brennenstuhl H, Döring JH, Donze SH, Bijlsma EK, van Haeringen A, Huhle D, Jestaedt L, Merkenschlager A, Arelin M, Gräfe D, Neuser S, Oates S, Pal DK, Parker MJ, Lemke JR, Hoffmann GF, Kölker S, Harting I, Syrbe S (2022). Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies. Eur J Hum Genet 2022; 30(3): 298-306

Schwab L, Popp D, Nowack G, Bombach P, Vogt C, Richnow HH (2022). Structural analysis of microbiomes from salt caverns used for underground gas storage. International Journal of Hydrogen Energy 2022; 47: 20684-20694

Schwarz H, Popp B, Airik R, Torabi N, Knaup KX, Stoeckert J, Wiech T, Amann K, Reis A, Schiffer M, Wiesener MS, Schueler M (2022). Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation. Hum Mol Genet 2022; 31(9): 1357-1369

Seiffert S, Pendziwiat M, Bierhals T, Goel H, Schwarz N, van der Ven A, Boßelmann CM, Lemke J, Syrbe S, Willemsen MH, Hedrich UBS, Helbig I, Weber Y (2022). Modulating effects of FGF12 variants on Na(V)1.2 and Na(V)1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series. EBioMedicine 2022; 83(): 104234

Thomas Q, Motta M, Gautier T, Zaki MS, Ciolfi A, Paccaud J, Girodon F, Boespflug-Tanguy O, Besnard T, Kerkhof J, McConkey H, Masson A, Denommé-Pichon AS, Cogné B, Trochu E, Vignard V, El It F, Rodan LH, Alkhateeb MA, Jamra RA, Duplomb L, Tisserant E, Duffourd Y, Bruel AL, Jackson A, Banka S, McEntagart M, Saggar A, Gleeson JG, Sievert D, Bae H, Lee BH, Kwon K, Seo GH, Lee H, Saeed A, Anjum N, Cheema H, Alawbathani S, Khan I, Pinto-Basto J, Teoh J, Wong J, Sahari UBM, Houlden H, Zhelcheska K, Pan (2022). Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly. Am J Hum Genet 2022; 109(10): 1909-1922

Ullrich M, Richter S, Liers J, Drukewitz S, Friedemann M, Kotzerke J, Ziegler CG, Nöltin S, Kopka S, Pietzsch J (2022). Epigenetic drugs in somatostatin type 2 receptor radionuclide theranostics and radiation transcriptomics in mouse pheochromocytoma models. Theranostics 2023 2022; 13: 278-294

van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robine (2022). Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort. Genet Med 2022; 24(8): 1753-1760

Wang M, Xue Q, Li X, Krohn K, Ziesche S, Ceglarek U, Blüher M, Keller M, Yaskolka Meir A, Heianza Y, Kovacs P, Shai I, Qi L (2022). Circulating Levels of microRNA-122 and Hepatic Fat Change in Response to Weight-Loss Interventions: CENTRAL Trial. J Clin Endocrinol Metab 2022; 107(5): 1899-1906

Winkler R, Quaas M, Glasmacher S, Wolfrum U, Thalheim T, Galle J, Krohn K, Magin TM, Aust G (2022). The Adhesion G-Protein-Coupled Receptor GPR115/ADGRF4 Regulates Epidermal Differentiation and Associates with Cytoskeletal KRT1. Cells 2022; 11(19): 3151

Woods E, Marson I, Coci E, Spiller M, Kumar A, Brady A, Homfray T, Fisher R, Turnpenny P, Rankin J, Kanani F, Platzer K, Ververi A, Emmanouilidou E, Bourboun N, Giannakoulas G, Balasubramanian M (2022). Expanding the phenotype of TAB2 variants and literature review. Am J Med Genet A 2022; 188(11): 3331-3342

Wopperer FJ, Knaup KX, Stanzick KJ, Schneider K, Jobst-Schwan T, Ekici AB, Uebe S, Wenzel A, Schliep S, Schürfeld C, Seitz R, Bernhardt W, Gödel M, Wiesener A, Popp B, Stark KJ, Gröne HJ, Friedrich B, Weiß M, Basic-Jukic N, Schiffer M, Schröppel B, Huettel B, Beck BB, Sayer JA, Ziegler C, Büttner-Herold M, Amann K, Heid IM, Reis A, Pasutto F, Wiesener MS (2022). Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases. Kidney Int 2022; 102(2): 405-420

Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk (2022). Clinical implementation of RNA sequencing for Mendelian disease diagnostics. Genome Med 2022; 14(1): 38

Buchbeiträge

Heimer G, Neuser S, Ben-Zeev B, Ebrahimi-Fakhari D (2022). TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability. In: In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A: GeneReviews®. University of Washington, Seattle; 1993?2022, Seattle (2022)

Platzer K, Krey I, Lemke JR (2022). GRIN2D-Related Developmental and Epileptic Encephalopathy. In: In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A: GeneReviews®. University of Washington, Seattle; 1993?2022, Seattle (2022)

Publikationen mit Erst- oder Seniorautorschaft

Appelhof B, Wagner M, Hoefele J, Heinze A, Roser T, Koch-Hogrebe M, Roosendaal SD, Dehghani M, Mehrjardi MYV, Torti E, Houlden H, Maroofian R, Rajabi F, Sticht H, Baas F, Wieczorek D, Jamra RA (2021). Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. Eur J Hum Genet 2021; 29(3): 411-421

Benke TA, Park K, Krey I, Camp CR, Song R, Ramsey AJ, Yuan H, Traynelis SF, Lemke J (2021). Clinical and therapeutic significance of genetic variation in the GRIN gene family encoding NMDARs. Neuropharmacology 2021; 199: 108805

Datta AN, Bahi-Buisson N, Bienvenu T, Buerki SE, Gardiner F, Cross JH, Heron B, Kaminska A, Korff CM, Lepine A, Lesca G, McTague A, Mefford HC, Mignot C, Milh M, Piton A, Pressler RM, Ruf S, Sadleir LG, de Saint Martin A, Van Gassen K, Verbeek NE, Ville D, Villeneuve N, Zacher P, Scheffer IE, Lemke JR (2021). The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy. Epilepsia 2021; 62(2): 325-334

Gjermeni E, Kirstein AS, Kolbig F, Kirchhof M, Bundalian L, Katzmann JL, Laufs U, Blüher M, Garten A, Le Duc D (2021). Obesity-An Update on the Basic Pathophysiology and Review of Recent Therapeutic Advances. Biomolecules 2021; 11(10): 1426

Jauss RT, Nowack A, Walden S, Wolf R, Schaffer S, Schellbach B, Bonkowski M, Schlegel M (2021). To the canopy and beyond: Air dispersal as a mechanism of ubiquitous protistan pathogen assembly in tree canopies. Eur J Protistol 2021; 80: 125805

Jauss RT, Solf N, Kolora SRR, Schaffer S, Wolf R, Henle K, Fritz U, Schlegel M (2021). Mitogenome evolution in the Lacerta viridis complex (Lacertidae, Squamata) reveals phylogeny of diverging clades Systematcis and Biodiversity 2021; 7: 682-692

Jauss RT, Walden S, Fiore-Donno AM, Schaffer S, Wolf R, Feng K, Bonkowski M, Schlegel MA (2021). Parasites Paradise: Biotrophic Species Prevail Oomycete Community Composition in Tree Canopies. Front For Glob Change 2021; 14(4): 668895

Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH, Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McLaughlin HM, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, (2021). De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med 2021; 23(4): 653-660

Krey I, Heine C, Frömming M, Herrmann J, Møller RS, Weckhuysen S, Courage C, Beblo S, Syrbe S, Lemke JR (2021). The Angelman Syndrome Online Registry - A multilingual approach to support global research. Eur J Med Genet 2021; 64(12): 104349

Köhler MJ, Lemke JR (2021). [Cutaneous polyposis in a female patient with an APC variant without adenomatous polyposis of the colon]. Hautarzt 2021; 72(10): 905-908

Le Duc D, Hentschel J, Neuser S, Stiller M, Meier C, Jäger E, Abou Jamra R, Platzer K, Monecke A, Ziemer M, Markovic A, Bläker H, Lemke JR (2021). In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas. Eur J Hum Genet 2021; 29(3): 489-494

Le Duc D, Lin CC, Popkova Y, Yang Z, Akhil V, Çakir MV, Grunewald S, Simon JC, Dietz A, Dannenberger D, Garten A, Lemke JR, Schiller J, Blüher M, Nono Nankam PA, Rolle-Kampczyk U, von Bergen M, Kelso J, Schöneberg T (2021). Reduced lipolysis in lipoma phenocopies lipid accumulation in obesity. Int J Obes (Lond) 2021; 45(3): 565-576

Lieberwirth JK, Joset P, Heinze A, Hentschel J, Stein A, Iannaccone A, Steindl K, Kuechler A, Abou Jamra R (2021). Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy. Eur J Hum Genet 2021; 29(5): 808-815

Mainz JG, Arnold C, Wittstock K, Hipler UC, Lehmann T, Zagoya C, Duckstein F, Ellemunter H, Hentschel J (2021). Ivacaftor Reduces Inflammatory Mediators in Upper Airway Lining Fluid From Cystic Fibrosis Patients With a G551D Mutation: Serial Non-Invasive Home-Based Collection of Upper Airway Lining Fluid. Front Immunol 2021; 12: 642180

Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S et al. (2021). Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum Mutat 2021; 42(6): 762-776

Oppermann H, Elsel S, Birkemeyer C, Meixensberger J, Gaunitz F (2021). Erythrocytes Prevent Degradation of Carnosine by Human Serum Carnosinase. Int J Mol Sci 2021; 22(23): 12802

Platzer K, Lemke JR (2021). GRIN2B-Related Neurodevelopmental Disorder. Adam MP 2021; 00: 00-00

Platzer K, Lemke JR (2021). GRIN1-Related Neurodevelopmental Disorder. Adam MP 2021; 00: 00-00

Prenzel F, Ceglarek U, Adams I, Hammermann J, Issa U, Lohse G, Mainz JG, Meister J, Spittel D, Thoss K, Vogel M, Duckstein F, Henn C, Hentschel J (2021). Audit of sweat chloride testing reveals analytical errors. Clin Chem Lab Med 2021; 59(8): 1376-1383

Rohde C, Thiele AG, Baerwald C, Ascherl RG, Lier D, Och U, Heller C, Jung A, Schönherr K, Joerg-Streller M, Luttat S, Matzgen S, Winkler T, Rosenbaum-Fabian S, Joos O, Beblo S (2021). Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy. Orphanet J Rare Dis 2021; 16(1): 477

Schubert S, Brandt L, Burk J (2021). A 3D Dynamic In Vitro Model of Inflammatory Tendon Disease. Methods Mol Biol 2021; 2269: 167-174

Schumann I, Berger M, Nowag N, Schäfer Y, Saumweber J, Scholz H, Thum AS (2021). Ethanol-guided behavior in Drosophila larvae. Sci Rep 2021; 11(1): 12307

Thiele AG, Spieß N, Ascherl R, Arelin M, Rohde C, Kiess W, Beblo S (2021). Psychological well-being of early and continuously treated phenylketonuria patients. JIMD Rep 2021; 59(1): 69-80

Velluva A, Radtke M, Horn S, Popp B, Platzer K, Gjermeni E, Lin CC, Lemke JR, Garten A, Schöneberg T, Blüher M, Abou Jamra R, Le Duc D (2021). Phenotype-tissue expression and exploration (PTEE) resource facilitates the choice of tissue for RNA-seq-based clinical genetics studies. BMC Genomics 2021; 22(1): 802

Wegler M, Roth C, Schumann E, Kogan J, Totten E, Guillen Sacoto MJ, Abou Jamra R, Hornemann F (2021).  Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6. Clin Genet 2021; 99(4): 565-571

Zacher P, Mayer T, Brandhoff F, Bartolomaeus T, Le Duc D, Finzel M, Heinze A, Horn S, Klöckner C, Körber G, Hentschel J, Kalita M, Krey I, Nastainczyk-Wulf M, Platzer K, Rebstock J, Popp B, Stiller M, Teichmann AC, Jamra RA, Lemke JR (2021). The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals. Genet Med 2021; 23(8): 1492-1497

Publikationen mit Koautorschaft

Aghakhanyan G, Saur D, Rullmann M, Weise CM, Schroeter ML, Marek K, Jamra RA, Tiepolt S, Strauss M, Scherlach C, Hoffmann KT, Sabri O, Classen J, Barthel H (2021). PET/MRI Delivers Multimodal Brain Signature in Alzheimers Disease with De Novo PSEN1 Mutation. Curr Alzheimer Res 2021; 18(2): 178-184

Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, Asadollahi R, Becker J, Bierhals T, Brown KE, Bruel AL, Brunet T, Carneiro M, Cremer K, Day R, Denomme-Pichon AS, Dyment DA, Engels H, Fisher R, Goh ES, Hajianpour MJ, Haertel LRM, Hauer N, Hempel M, Herget T, Johannsen J, Kraus C, Le Guyader G, Lesca G, Mau-Them FT, McDermott JH, McWalter K, Meyer P, Õunap K, Popp B, Reimand T, Riedhammer KM, Russo M, Sadleir LG, Saenz M, Schiff M, Schuler E, Syrbe S, et al. (2021). New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genet Med 2021; 23(3): 543-554Borde J, Ernst C, Wappenschmidt B, Niederacher D, Weber-Lassalle K, Schmidt G, Hauke J, Quante AS, Weber-Lassalle N, Horváth J, Pohl-Rescigno E, Arnold N, Rump A, Gehrig A, Hentschel J, Faust U, Dutrannoy V, Meindl A, Kuzyakova M, Wang-Gohrke S, Weber BHF, Sutter C, Volk AE, Giannakopoulou O, Lee A, Engel C, Schmidt MK, Antoniou AC, Schmutzler RK, Kuchenbaecker K, Hahnen E (2021). Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers. J Natl Cancer Inst 2021; 113(7): 893-899

Bosch E, Hebebrand M, Popp B, Penger T, Behring B, Cox H, Towner S, Kraus C, Wilson WG, Khan S, Krumbiegel M, Ekici AB, Uebe S, Trollmann R, Woelfle J, Reis A, Vasileiou G (2021). BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome. J Clin Endocrinol Metab 2021; 106(12): 3413-3427

Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A, Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou (2021). Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Am J Hum Genet 2021; 108(6): 1138-1150

de Fallois J, Schönauer R, Münch J, Nagel M, Popp B, Halbritter J (2021). Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics. Front Genet 2021; 12: 682565

Duncan AR, Polovitskaya MM, Gaitan-Penas H, Bertelli S, VanNoy GE, Grant PE, O Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L, van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estevez R, Jentsch TJ, Pusch M, Agrawal PB (2021). Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. Am J Hum Genet 2021; 108(8): 1450-1465

Dworschak GC, Punetha J, Kalanithy JC, Mingardo E, Erdem HB, Akdemir ZC, Karaca E, Mitani T, Marafi D, Fatih JM, Jhangiani SN, Hunter JV, Dakal TC, Dhabhai B, Dabbagh O, Alsaif HS, Alkuraya FS, Maroofian R, Houlden H, Efthymiou S, Dominik N, Salpietro V, Sultan T, Haider S, Bibi F, Thiele H, Hoefele J, Riedhammer KM, Wagner M, Guella I, Demos M, Keren B, Buratti J, Charles P, Nava C, Héron D, Heide S, Valkanas E, Waddell LB, Jones KJ, Oates EC, Cooper ST, MacArthur D, Syrbe S, Ziegler A, Platzer (2021).  Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genet Med 2021; 23(9): 1715-1725

Döring JH, Schröter J, Jüngling J, Biskup S, Klotz KA, Bast T, Dietel T, Korenke GC, Christoph S, Brennenstuhl H, Rubboli G, Moeller RS, Lesca G, Chaix Y, Kölker S, Hoffmann GF, Lemke JR, Syrbe S (2021). Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders. Int J Mol Sci 2021; 22(6): 2824

Döring JH, Schröter J, Jüngling J, Biskup S, Klotz KA, Bast T, Dietel T, Korenke GC, Christoph S, Brennenstuhl H, Rubboli G, Møller RS, Lesca G, Chaix Y, Kölker S, Hoffmann GF, Lemke JR, Syrbe S (2021). Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders. Int J Mol Sci 2021; 22(6): 893-899

Ebrahimi-Fakhari D, Alecu JE, Brechmann B, Ziegler M, Eberhardt K, Jumo H, D Amore A, Habibzadeh P, Faghihi MA, De Bleecker JL, Vuillaumier-Barrot S, Auvin S, Santorelli FM, Neuser S, Popp B, Yang E, Barrett L, Davies AK, Saffari A, Hirst J, Sahin M (2021). High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia. Brain Commun 2021; 3(4): fcab221

El Achkar CM, Harrer M, Smith L, Kelly M, Iqbal S, Maljevic S, Niturad CE, Vissers LELM, Poduri A, Yang E, Lal D, Lerche H, Møller RS, Olson HE (2021). Characterization of the GABRB2-Associated Neurodevelopmental Disorders. Ann Neurol 2021; 89(3): 573-586

Evers RAF, van Wegberg AMJ, Ahring K, Beblo S, Belanger-Quintana A, Bosch AM, Burlina A, Campistol J, Coskun T, Feillet F, Gicewska M, Huijbregts SCJ, Kearney S, Langeveld M, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz FK, MacDonald A, van Spronsen FJ (2021). Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries. Mol Genet Metab 2021; 132(4): 215-219

Föhrenbach M, Jamra RA, Borkhardt A, Brozou T, Muschke P, Popp B, Rey LK, Schaper J, Surowy H, Zenker M, Zweier C, Wieczorek D, Redler S (2021). QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum. Clin Genet 2021; 99(1): 199-207

Föhrenbach M, Jamra RA, Borkhardt A, Brozou T, Muschke P, Popp B, Rey LK, Schaper J, Surowy H, Zenker M, Zweier C, Wieczorek D, Redler S (2021). QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum. Clin Genet 2021; 99(1): 199-207

Föhrenbach M, Jamra RA, Borkhardt A, Brozou T, Muschke P, Popp B, Rey LK, Schaper J, Surowy H, Zenker M, Zweier C, Wieczorek D, Redler S (2021). QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum. Clin Genet 2021; 99(1): 199-207

Föhrenbach M, Jamra RA, Borkhardt A, Brozou T, Muschke P, Popp B, Rey LK, Schaper J, Surowy H, Zenker M, Zweier C, Wieczorek D, Redler S (2021). QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum. Clin Genet 2021; 99(1): 199-207

Gergics P, Smith C, Bando H, Jorge AAL, Rockstroh-Lippold D, Vishnopolska SA, Castinetti F, Maksutova M, Carvalho LRS, Hoppmann J, Martínez Mayer J, Albarel F, Braslavsky D, Keselman A, Bergadá I, Martí MA, Saveanu A, Barlier A, Abou Jamra R, Guo MH, Dauber A, Nakaguma M, Mendonca BB, Jayakody SN, Ozel AB, Fang Q, Ma Q, Li JZ, Brue T, Pérez Millán MI, Arnhold IJP, Pfaeffle R, Kitzman JO, Camper SA (2021). High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency. Am J Hum Genet 2021; 108(8): 1526-1539

Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL, Buchanan C, Willing M, Toler TL, Fassi E, Baker L, Vansenne F, Wang X, Ambrus JL Jr, Fannemel M, Posey JE, Agolini E, Novelli A, Rauch A, Boonsawat P, Fagerberg CR, Larsen MJ, Kibaek M, Labalme A, Poisson A, P (2021). Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med 2021; 23(6): 1028-1040

Hüffmeier U, Kraus C, Reuter MS, Uebe S, Abbott MA, Ahmed SA, Rawson KL, Barr E, Li H, Bruel AL, Faivre L, Tran Mau-Them F, Botti C, Brooks S, Burns K, Ward DI, Dutra-Clarke M, Martinez-Agosto JA, Lee H, Nelson SF, Zacher P, Abou Jamra R, Klöckner C, McGaughran J, Kohlhase J, Schuhmann S, Moran E, Pappas J, Raas-Rothschild A, Sacoto MJG, Henderson LB, Palculict TB, Mullegama SV, Zghal Elloumi H, Reich A, Schrier Vergano SA, Wahl E, Reis A, Zweier C (2021). EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. Orphanet J Rare Dis 2021; 16(1): 136

Kirstein AS, Kehr S, Nebe M, Hanschkow M, Barth LAG, Lorenz J, Penke M, Breitfeld J, Le Duc D, Landgraf K, Körner A, Kovacs P, Stadler PF, Kiess W, Garten A (2021). PTEN regulates adipose progenitor cell growth, differentiation, and replicative aging. J Biol Chem 2021; 297(2): 100968

Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Osorio AN, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Hou (2021). Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nat Commun 2021; 12(1): 2558

Linder A, Bothe V, Linder N, Schwarzlmueller P, Dahlström F, Bartenhagen C, Dugas M, Pandey D, Thorn-Seshold J, Boehmer DFR, Koenig LM, Kobold S, Schnurr M, Raedler J, Spielmann G, Karimzadeh H, Schmidt A, Endres S, Rothenfusser S (2021). Defective Interfering Genomes and the Full-Length Viral Genome Trigger RIG-I After Infection With Vesicular Stomatitis Virus in a Replication Dependent Manner. Front Immunol 2021; 12: 595390

Logrono W, Popp D, Nikolausz M, Kluge P, Harms H, Kleinsteuber S (2021). Microbial Communities in Flexible Biomethanation of Hydrogen Are Functionally Resilient Upon Starvation. Front Microbiol 2021; 12: 619632

Melzer M, Schubert S, Müller SF, Geyer J, Hagen A, Niebert S, Burk J (2021). Rho/ROCK Inhibition Promotes TGF-ß3-Induced Tenogenic Differentiation in Mesenchymal Stromal Cells. Stem Cells Int 2021; 2021: 8284690

Metze D, Popp D, Schwab L, Keller NS, da Rocha UN, Richnow HH, Vogt C (2021). Temperature management potentially affects carbon mineralization capacity and microbial community composition of a shallow aquifer. FEMS Microbiol Ecol 2021; 97(2): fiaa261

Muir AM, Gardner JF, van Jaarsveld RH, de Lange IM, van der Smagt JJ, Wilson GN, Dubbs H, Goldberg EM, Zitano L, Bupp C, Martinez J, Srour M, Accogli A, Alhakeem A, Meltzer M, Gropman A, Brewer C, Caswell RC, Montgomery T, McKenna C, McKee S, Powell C, Vasudevan PC, Brady AF, Joss S, Tysoe C, Noh G, Tarnopolsky M, Brady L, Zafar M, Schrier Vergano SA, Murray B, Sawyer L, Hainline BE, Sapp K, DeMarzo D, Huismann DJ, Wentzensen IM, Schnur RE, Monaghan KG, Juusola J, Rhodes L, Dobyns WB, Lecoquierr (2021). Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genet Med 2021; 23(5): 881-887

Mütze U, Henze L, Gleich F, Lindner M, Grünert SC, Spiekerkoetter U, Santer R, Blessing H, Thimm E, Ensenauer R, Weigel J, Beblo S, Arélin M, Hennermann JB, Marquardt T, Marquardt I, Freisinger P, Krämer J, Dieckmann A, Weinhold N, Keller M, Walter M, Schiergens KA, Maier EM, Hoffmann GF, Garbade SF, Kölker S (2021). Newborn screening and disease variants predict neurological outcome in isovaleric aciduria. J Inherit Metab Dis 2021; 44(4): 857-870

Märtner EMC, Maier EM, Mengler K, Thimm E, Schiergens KA, Marquardt T, Santer R, Weinhold N, Marquardt I, Das AM, Freisinger P, Grünert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer-Seifert J, Lenz D, Hoffmann GF, Mühlhausen C, Ensenauer R, Garbade SF, Kölker S, Boy N (2021). Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study. J Inherit Metab Dis 2021; 44(3): 629-638

Märtner EMC, Thimm E, Guder P, Schiergens KA, Rutsch F, Roloff S, Marquardt I, Das AM, Freisinger P, Grünert SC, Krämer J, Baumgartner MR, Beblo S, Haase C, Dieckmann A, Lindner M, Näke A, Hoffmann GF, Mühlhausen C, Walter M, Garbade SF, Maier EM, Kölker S, Boy N (2021). The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study. Sci Rep 2021; 11(1): 19300

Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, Allis K, Brasch-Andersen C, Balasubramanian M, Bai R, Callewaert B, Hüffmeier U, Le Duc D, Radtke M, Korff C, Kennedy J, Low K, Møller RS, Nielsen JEK, Popp B, Quteineh L, Rønde G, Schönewolf-Greulich B, Shillington A, Taylor MR, Todd E, Torring PM, Tümer Z, Vasileiou G, Yates TM, Zweier C, Rosch R, Basson MA, Pal DK (2021). ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder. Clin Genet 2021; 100(4): 412-429

Rago L, Popp D, Heiker JT, Harnich F (2021). Electroactive microorganisms in mouse feces. Electrochimica Acta 2021; 365: 137326

Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O, Benke PJ, Cameron ES, Strehlow V, Platzer K, Jamra RA, Klöckner C, Osmond M, Licata T, Rojas S, Dyment D, Chong JSC, Lincoln S, Stoler JM, Postlethwait JH, Wangler MF, Yamamoto S, Krier J, Westerfield M, Bellen HJ (2021). Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med 2021; 23(10): 1889-1900

Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, et al. (2021). Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med 2021; 23(10): 1922-1932

Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, (2021). DLG4-related synaptopathy: a new rare brain disorder. Genet Med 2021; 23(5): 888-899

Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Sc (2021). Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. Am J Hum Genet 2021; 108(6): 1053-1068

Sander C, Oppermann H, Nestler U, Sander K, von Dercks N, Meixensberger J (2021). Causes and Predictors of Unplanned Readmission in Cranial Neurosurgery. World Neurosurg 2021; 149: 622-635

Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R (2021). ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. Brain 2021; 144(5): 1435-1450

Voigtmann F, Wolf P, Landgraf K, Stein R, Kratzsch J, Schmitz S, Abou Jamra R, Blüher M, Meiler J, Beck-Sickinger AG, Kiess W, Körner A (2021). Identification of a novel leptin receptor (LEPR) variant and proof of functional relevance directing treatment decisions in patients with morbid obesity. Metabolism 2021; 116: 154438

Walden S, Jauss RT, Feng K, Fiore-Donno AM, Dumack K, Schaffer S, Wolf R, Schlegel M, Bonkowski M (2021). On the phenology of protists: recurrent patterns reveal seasonal variation of protistan (Rhizaria: Cercozoa and Endomyxa) communities in tree canopies. FEMS Microbiol Ecol 2021; 97(7): 081

Westbury MV, Le Duc D, Duchene DA, Krishnan A, Prost S, Rutschmann S, Grau JH, Dalen L, Weyrich A, Noren K, Werdelin L, Dalerum F, Schöneberg T, Hofreiter M (2021). Ecological Specialization and Evolutionary Reticulation in Extant Hyaenidae. Mol Biol Evol 2021; 38(9): 3884-3897

White SM, Bhoj E, Nellaker C, Lachmeijer AMA, Marshall AE, Boycott KM, Li D, Smith W, Hartley T, McBride A, Ernst ME, May AS, Wieczorek D, Abou Jamra R, Koch-Hogrebe M, Ounap K, Pajusalu S, van Gassen KLI, Sadedin S, Ellingwood S, Tan TY, Christodoulou J, Barea J, Lockhart PJ, Nezarati MM, Kernohan KD (2021). A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. Am J Hum Genet 2021; 108(4): 749-756

Zagaglia S, Steel D, Krithika S, Hernandez-Hernandez L, Custodio HM, Gorman KM, Vezyroglou A, Møller RS, King MD, Hammer TB, Spaull R, Fazeli W, Bartolomaeus T, Doummar D, Keren B, Mignot C, Bednarek N, Cross JH, Mallick AA, Sanchis-Juan A, Basu A, Raymond FL, Lynch BJ, Majumdar A, Stamberger H, Weckhuysen S, Sisodiya SM, Kurian MA (2021). RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood. Neurology 2021; 96(11): 1539-1550

Zarate YA, Uehara T, Abe K, Oginuma M, Harako S, Ishitani S, Lehesjoki AE, Bierhals T, Kloth K, Ehmke N, Horn D, Holtgrewe M, Anderson K, Viskochil D, Edgar-Zarate CL, Sacoto MJG, Schnur RE, Morrow MM, Sanchez-Valle A, Pappas J, Rabin R, Muona M, Anttonen AK, Platzer K, Luppe J, Gburek-Augustat J, Kaname T, Okamoto N, Mizuno S, Kaido Y, Ohkuma Y, Hirose Y, Ishitani T, Kosaki K (2021). CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants. Genet Med 2021; 23(6): 1050-1057

Zhang Y, Tachtsidis G, Schob C, Koko M, Hedrich UBS, Lerche H, Lemke JR, van Haeringen A, Ruivenkamp C, Prescott T, Tveten K, Gerstner T, Pruniski B, DiTroia S, VanNoy GE, Rehm HL, McLaughlin H, Bolz HJ, Zechner U, Bryant E, McDonough T, Kindler S, Bähring R (2021). KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating. Hum Mol Genet 2021; 30(23): 2300-2314

Buchbeiträge

Schubert S, Brandt L, Burk J (2021). A 3D Dynamic In Vitro Model of Inflammatory Tendon Disease. In: Springer Nature: In Vitro Models for Stem Cell Therapy. Springer Verlag, New York (2021); 167-174

Strehlow V (2021). Die Abrafaxe und die Welt der Muskik. In: Klaus D. Schleiter: So klingt Abenteuer! MOSAIK Steinchen für Steinchen Verlag, Berlin (2021); 112. Neuerscheinung

Publikationen mit Erst- oder Seniorautorschaft

Krey I, Krois-Neudenberger J, Hentschel J, Syrbe S, Polster T, Hanker B, Fiedler B, Kurlemann G, Lemke JR (2020). Genotype-phenotype correlation on 45 individuals with West syndrome. Eur J Paediatr Neurol 2020; 25: 134-138

Le Duc D, Horn S, Jamra RA, Schaper J, Wieczorek D, Redler S (2020). Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement. Eur J Med Genet 2020; 63(2): 103649

Lemke JR (2020). Predicting incidences of neurodevelopmental disorders. Brain 2020; 143(4): 1046-1048

Popp B, Erber R, Kraus C, Vasileiou G, Hoyer J, Burghaus S, Hartmann A, Beckmann MW, Reis A, Agaimy A (2020). Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants. Mod Pathol 2020; 33(11): 2341-2353

Publikationen mit Koautorschaft

Barnes DR, Rookus MA, McGuffog L, Leslie G, Mooij TM, Dennis J, Mavaddat N, Adlard J, Ahmed M, Aittomäki K, Andrieu N, Andrulis IL, Arnold N, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Benitez J, Berthet P, Bia?kowska K, Blanco AM, Blok MJ, Bonanni B, Boonen SE, Borg Å, Bozsik A, Bradbury AR, Brennan P, Brewer C, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Christensen LL, Chung WK, Claes KBM, Colas C, Collonge-Rame MA, Cook J, Daly MB, Davidson R, de la Hoya M, de Pu (2020). Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. Genet Med 2020; 22(10): 1653-1666

Connaughton DM, Dai R, Owen DJ, Marquez J, Mann N, Graham-Paquin AL, Nakayama M, Coyaud E, Laurent EMN, St-Germain JR, Blok LS, Vino A, Klämbt V, Deutsch K, Wu CW, Kolvenbach CM, Kause F, Ottlewski I, Schneider R, Kitzler TM, Majmundar AJ, Buerger F, Onuchic-Whitford AC, Youying M, Kolb A, Salmanullah D, Chen E, van der Ven AT, Rao J, Ityel H, Seltzsam S, Rieke JM, Chen J, Vivante A, Hwang DY, Kohl S, Dworschak GC, Hermle T, Alders M, Bartolomaeus T, Bauer SB, Baum MA, Brilstra EH, Challman TD, (2020). Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Am J Hum Genet 2020; 107(4): 727-742

Döring JH, Saffari A, Bast T, Brockmann K, Ehrhardt L, Fazeli W, Janzarik WG, Kluger G, Muhle H, Møller RS, Platzer K, Santos JL, Bache I, Bertsche A, Bonfert M, Borggräfe I, Broser PJ, Datta AN, Hammer TB, Hartmann H, Hasse-Wittmer A, Henneke M, Kühne H, Lemke JR, Maier O, Matzker E, Merkenschlager A, Opp J, Patzer S, Rostasy K, Stark B, Strzelczyk A, von Stülpnagel C, Weber Y, Wolff M, Zirn B, Hoffmann GF, Kölker S, Syrbe S (2020). The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.Biomedicines 2020; 8(11): 456

El Hayek L, Tuncay IO, Nijem N, Russell J, Ludwig S, Kaur K, Li X, Anderton P, Tang M, Gerard A, Heinze A, Zacher P, Alsaif HS, Rad A, Hassanpour K, Abbaszadegan MR, Washington C, DuPont BR, Louie RJ, Couse M, Faden M, Rogers RC, Abou Jamra R, Elias ER, Maroofian R, Houlden H, Lehman A, Beutler B, Chahrour MH (2020). KDM5A mutations identified in autism spectrum disorder using forward genetics. Elife 2020; 9: 56883

Fagerberg CR, Taylor A, Distelmaier F, Schrøder HD, Kibæk M, Wieczorek D, Tarnopolsky M, Brady L, Larsen MJ, Jamra RA, Seibt A, Hejbøl EK, Gade E, Markovic L, Klee D, Nagy P, Rouse N, Agarwal P, Dolinsky VW, Bakovic M (2020). Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration. Brain 2020; 143(1): 94-111

Froukh T, Nafie O, Al Hait SAS, Laugwitz L, Sommerfeld J, Sturm M, Baraghiti A, Issa T, Al-Nazer A, Koch PA, Hanselmann J, Kootz B, Bauer P, Al-Ameri W, Abou Jamra R, Alfrook AJ, Hamadallah M, Sofan L, Riess A, Haack TB, Riess O, Buchert R (2020). Genetic basis of neurodevelopmental disorders in 103 Jordanian families. Clin Genet 2020; 97(4): 621-627

Gburek-Augustat J, Heinze A, Abou Jamra R, Merkenschlager A (2020). Hemiplegic Migraine in Glut1 Deficiency Syndrome and Paroxysmal Dyskinesia at Ketogenic Diet Induction: Case Report and Literature Review. Mov Disord Clin Pract 2020; 7(8): 965-970

Hannan S, Affandi AHB, Minere M, Jones C, Goh P, Warnes G, Popp B, Trollmann R, Nizetic D, Smart TG (2020). Differential Coassembly of alpha1-GABAARs Associated with Epileptic Encephalopathy. J Neurosci 2020; 40(29): 5518-5530

Heyne HO, Baez-Nieto D, Iqbal S, Palmer DS, Brunklaus A, May P, Johannesen KM, Lauxmann S, Lemke JR, Møller RS, Pérez-Palma E, Scholl UI, Syrbe S, Lerche H, Lal D, Campbell AJ, Wang HR, Pan J, Daly MJ (2020). Predicting functional effects of missense variants in voltage-gated sodium and calcium channels. Sci Transl Med 2020; 12(556): 1-16

Hornemann F, Le Duc D, Roth C, Pfäffle R, Huhle D, Merkenschlager A (2020). Childhood Dystonia-Parkinsonism Following Infantile Spasms-Clinical Clue to Diagnosis in Early Beta-Propeller Protein-Associated Neurodegeneration. Neuropediatrics 2020; 51(1): 22-29

Lal D, May P, Perez-Palma E, Samocha KE, Kosmicki JA, Robinson EB, Møller RS, Krause R, Nürnberg P, Weckhuysen S, De Jonghe P, Guerrini R, Niestroj LM, Du J, Marini C, Ware JS, Kurki M, Gormley P, Tang S, Wu S, Biskup S, Poduri A, Neubauer BA, Koeleman BPC, Helbig KL, Weber YG, Helbig I, Majithia AR, Palotie A, Daly MJ (2020). Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders. Genome Med 2020; 12(1): 28

Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, Torti E, Abe Y, Bartolomaeus T, Clayton-Smith J, Cogné B, Cusco I, Duplomb L, De Bont E, Duffourd Y, Duijkers F, Elpeleg O, Fattal A, Geneviève D, Guillen Sacoto MJ, Guimier A, Harris DJ, Hempel M, Isidor B, Jouan T, Kuentz P, Koshimizu E, Lichtenbelt K, Loik Ramey V, Maik M, Miyakate S, Murakami Y, Pasquier L, Pedro H, Simone L, Sondergaard-Schatz K, St-Onge J, Thevenon J, Valenzuela I, Abou Jamra R, van Gassen K, van (2020). De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features. J Med Genet 2020; 57(12): 808-819

Lessel D, Zeitler DM, Reijnders MRF, Kazantsev A, Hassani Nia F, Bartholomäus A, Martens V, Bruckmann A, Graus V, McConkie-Rosell A, McDonald M, Lozic B, Tan ES, Gerkes E, Johannsen J, Denecke J, Telegrafi A, Zonneveld-Huijssoon E, Lemmink HH, Cham BWM, Kovacevic T, Ramsdell L, Foss K, Le Duc D, Mitter D, Syrbe S, Merkenschlager A, Sinnema M, Panis B, Lazier J, Osmond M, Hartley T, Mortreux J, Busa T, Missirian C, Prasun P, Lüttgen S, Mannucci I, Lessel I, Schob C, Kindler S, Pappas J, Rabin R, (2020). Germline AGO2 mutations impair RNA interference and human neurological development.Nat Commun 2020; 11(1): 5797

Marafi D, Mitani T, Isikay S, Hertecant J, Almannai M, Manickam K, Abou Jamra R, El-Hattab AW, Rajah J, Fatih JM, Du H, Karaca E, Bayram Y, Punetha J, Rosenfeld JA, Jhangiani SN, Boerwinkle E, Akdemir ZC, Erdin S, Hunter JV, Gibbs RA, Pehlivan D, Posey JE, Lupski JR (2020). Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol 2020; 7(5): 610-627

Markus F, Angelini C, Trimouille A, Rudolf G, Lesca G, Goizet C, Lasseaux E, Arveiler B, van Slegtenhorst M, Brooks AS, Abou Jamra R, Korenke GC, Neidhardt J, Owczarek-Lipska M (2020). Rare variants in the GABAA receptor subunit epsilon identified in patients with a wide spectrum of epileptic phenotypes. Mol Genet Genomic Med 2020; 8(9): 1388

Matricardi S, De Liso P, Freri E, Costa P, Castellotti B, Magri S, Gellera C, Granata T, Musante L, Lesca G, Oertel J, Craiu D, Hammer TB, Møller RS, Barisic N, Abou Jamra R, Polster T, Vigevano F, Marini C (2020). Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene. Epilepsia 2020; 61(11): 2474-2485

Mauch RM, Hentschel J, Aanaes K, Barucha A, Nolasco da Silva MT, Levy CE, Høiby N, Mainz JG (2020). Antibody response against Pseudomonas aeruginosa and its relationship with immune mediators in the upper and lower airways of cystic fibrosis patients.Pediatr Pulmonol 2020; 55(4): 959-967

Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Geneviève D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader G (2020). De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med 2020; 22(3): 538-546

Mochel F, Rastetter A, Ceulemans B, Platzer K, Yang S, Shinde DN, Helbig KL, Lopergolo D, Mari F, Renieri A, Benetti E, Canitano R, Waisfisz Q, Plomp AS, Huisman SA, Wilson GN, Cathey SS, Louie RJ, Gaudio DD, Waggoner D, Kacker S, Nugent KM, Roeder ER, Bruel AL, Thevenon J, Ehmke N, Horn D, Holtgrewe M, Kaiser FJ, Kamphausen SB, Abou Jamra R, Weckhuysen S, Dalle C, Depienne C (2020). Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders. Brain 2020; 143: 3564-3573

Niestroj LM, Perez-Palma E, Howrigan DP, Zhou Y, Cheng F, Saarentaus E, Nürnberg P, Stevelink R, Daly MJ, Palotie A, Lal D (2020). Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects. Brain 2020; 143: 2106-2118

Patel VL, Busch EL, Friebel TM, Cronin A, Leslie G, McGuffog L, Adlard J, Agata S, Agnarsson BA, Ahmed M, Aittomäki K, Alducci E, Andrulis IL, Arason A, Arnold N, Artioli G, Arver B, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barnes DR, Barroso A, Barrowdale D, Belotti M, Benitez J, Bertelsen B, Blok MJ, Bodrogi I, Bonadona V, Bonanni B, Bondavalli D, Boonen SE, Borde J, Borg A, Bradbury AR, Brady A, Brewer C, Brunet J, Buecher B, Buys SS, Cabezas-Camarero S, Caldes T, Caliebe A, Caligo M (2020). Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness. Cancer Res 2020; 80(3): 624-638

Prabutzki P, Leopold J, Schubert S, Schiller J, Nimptsch A (2020). De novo synthesis of phospholipids and sphingomyelin in multipotent stromal cells - Monitoring studies by mass spectrometry. Chem Phys Lipids 2020; 232(): 104965

Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, Sorge I, Sansbury FH, Watts P, Foulds NC, Burton J, Hoganson G, Hurst JA, Menzies L, Osio D, Kerecuk L, Cobben JM, Jizi K, Jacquemont S, Bélanger SA, Löhner K, Veenstra-Knol HE, Lemmink HH, Keller-Ramey J, Wentzensen IM, Punj S, McWalter K, Lenberg J, Ellsworth KA, Radtke K, Akbarian S, Pappas J (2020). Genotype-phenotype correlation at codon 1740 of SETD2. Am J Med Genet A 2020; 182(9): 2037-2048

Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rod (2020). Genetic and phenotypic spectrum associated with IFIH1 gain-of-function. Hum Mutat 2020; 41(4): 837-849

Sander C, Oppermann H, Nestler U, Sander K, von Dercks N, Meixensberger J (2020). Early unplanned readmission of neurosurgical patients after treatment of intracranial lesions: a comparison between surgical and non-surgical intervention group. Acta Neurochir (Wien) 2020; 162(11): 2647-265

Schneeberger PE, Kortüm F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P, Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A, Gelb BD, Kurth I, (2020). Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. Brain 2020; 143(8): 2437-2453

Schönauer R, Baatz S, Nemitz-Kliemchen M, Frank V, Petzold F, Sewerin S, Popp B, Münch J, Neuber S, Bergmann C, Halbritter J (2020). Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes. Genet Med 2020; 22(8): 1374-1383

Scotti F, Agaimy A, Popp B, Endele S, Kraus C, Wuest W, Iro H, Koch M (2020). Plexiform Hypoglossal Schwannoma in an 11-Year-Old Child: Diagnosis, Management and Review of the Literature. Journal of Surgery and Research 2020; 3(4): 382-389

Taylor JL, Debost JPG, Morton SU, Wigdor EM, Heyne HO, Lal D, Howrigan DP, Bloemendal A, Larsen JT, Kosmicki JA, Weiner DJ, Homsy J, Seidman JG, Seidman CE, Agerbo E, McGrath JJ, Mortensen PB, Petersen L, Daly MJ, Robinson EB (2020). Paternal-age-related de novo mutations and risk for five disorders. Nat Commun 2020; 10(1): 3043

Vasileiou G, Costa MJ, Long C, Wetzler IR, Hoyer J, Kraus C, Popp B, Emons J, Wunderle M, Wenkel E, Uder M, Beckmann MW, Jud SM, Fasching PA, Cavallaro A, Reis A, Hammon M (2020). Breast MRI texture analysis for prediction of BRCA-associated genetic risk. BMC Med Imaging 2020; 20(1): 86

Zilmer M, Edmondson AC, Khetarpal SA, Alesi V, Zaki MS, Rostasy K, Madsen CG, Lepri FR, Sinibaldi L, Cusmai R, Novelli A, Issa MY, Fenger CD, Abou Jamra R, Reutter H, Briuglia S, Agolini E, Hansen L, Petäjä-Repo UE, Hintze J, Raymond KM, Liedtke K, Stanley V, Musaev D, Gleeson JG, Vitali C, O Brien WT, Gardella E, Rubboli G, Rader DJ, Schjoldager KT, Møller RS (2020). Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.Brain 2020; 143(4): 1114-1126

Publikationen mit Erst- oder Seniorautorschaft

Courage C, Jackson CB, Owczarek-Lipska M, Jamsheer A, Sowinska-Seidler A, Piotrowicz M, Jakubowski L, Dalleves F, Riesch E, Neidhardt J, Lemke JR (2019). Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome. Am J Med Genet A 2019; 179(12): 2447-2453

Hebebrand M, Huffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B (2019). The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. Orphanet J Rare Dis 2019; 14(1): 38

Hebebrand M, Vasileiou G, Krumbiegel M, Kraus C, Uebe S, Ekici AB, Thiel CT, Reis A, Popp B (2019). A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings. Am J Med Genet A 2019; 179(1): 50-56

Heyne HO, Artomov M, Battke F, Bianchini C, Smith DR, Liebmann N, Tadigotla V, Stanley CM, Lal D, Rehm H, Lerche H, Daly MJ, Helbig I, Biskup S, Weber YG, Lemke JR (2019). Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy. Genet Med 2019; 21(11): 2496-2503

Horn S, Au M, Basel-Salmon L, Bayrak-Toydemir P, Chapin A, Cohen L, Elting MW, Graham JM, Gonzaga-Jauregui C, Konen O, Holzer M, Lemke J, Miller CE, Rey LK, Wolf NI, Weiss MM, Waisfisz Q, Mirzaa GM, Wieczorek D, Sticht H, Abou Jamra R (2019). De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures. Brain 2019; 142(11): 3351-3359

Iqbal Z, Tawamie H, Ba W, Reis A, Halak BA, Sticht H, Uebe S, Kasri NN, Riazuddin S, van Bokhoven H, Abou Jamra R (2019). Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia. Genet Med 2019; 21(8): 1790-1796

Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, Buttner B, Cho MT, Cooper GM, Doering JH, Dubourg C, Everman DB, Hildebrand MS, Santos FJR, Kellam B, Keller-Ramey J, Lemke JR, Liu S, Niyazov D, Payne K, Person R, Quelin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh L, Yang S, Yuen RKC, Ziegler A, Sticht H, Pride MC, Orosco L, Martinez-Cerdeno V, Silverman JL, Crawley JN, S (2019). Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size. Brain 2019; 142(9): 2617-2630

Lemke JR (2019). Diagnostik genetisch bedingter Epilepsien Med Genet 2019; 31: 303-312

Moller RS, Liebmann N, Larsen LHG, Stiller M, Hentschel J, Kako N, Abdin D, Di Donato N, Pal DK, Zacher P, Syrbe S, Dahl HA, Lemke JR (2019). Parental mosaicism in epilepsies due to alleged de novo variants. Epilepsia 2019; 60: e63-e66

Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stobe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R (2019). De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. Am J Hum Genet 2019; 104(2): 203-212

Popp B, Agaimy A, Kraus C, Knaup KX, Ekici AB, Uebe S, Reis A, Wiesener M, Zweier C (2019). Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability. BMC Cancer 2019; 19(1): 435Pringsheim M*, Mitter D*, Schroder S, Warthemann R, Plumacher K, Kluger G, Baethmann M, Bast T, Braun S, Buttel HM, Conover E, Courage C, Datta AN, Eger A, Grebe TA, Hasse-Wittmer A, Heruth M, Hoft K, Kaindl AM, Karch S, Kautzky T, Korenke GC, Kruse B, Lutz RE, Omran H, Patzer S, Philippi H, Ramsey K, Rating T, Riess A, Schimmel M, Westman R, Zech FM, Zirn B, Ulmke PA, Sokpor G, Tuoc T, Leha A, Staudt M, Brockmann K (2019). Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice. Ann Clin Transl Neurol 2019; 6(4): 655-668

Rumping L, Buttner B, Maier O, Rehmann H, Lequin M, Schlump JU, Schmitt B, Schiebergen-Bronkhorst B, Prinsen HCMT, Losa M, Fingerhut R, Lemke JR, Zwartkruis FJT, Houwen RHJ, Jans JJM, Verhoeven-Duif NM, van Hasselt PM, Jamra R (2019). Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy. JAMA Neurol 2019; 76(3): 342-350

Spataru A*, Le Duc D*, Zagrean L, Zagrean AM (2019). Ethanol exposed maturing rat cerebellar granule cells show impaired energy metabolism and increased cell death after oxygen-glucose deprivation. Neural Regen Res 2019; 14(3): 485-490

Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR (2019). GRIN2A-related disorders: genotype and functional consequence predict phenotype. Brain 2019; 142(1): 80-92

Vasileiou G, Hoyer J, Thiel CT, Schaefer J, Zapke M, Krumbiegel M, Kraus C, Zweier M, Uebe S, Ekici AB, Schneider M, Wiesener M, Rauch A, Faschingbauer F, Reis A, Zweier C, Popp B (2019). Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? Prenat Diagn 2019; 39(12): 1136-1147

Publikationen mit Koautorschaft

Ballin N, Hotz A, Bourrat E, Kusel J, Oji V, Bouadjar B, Brognoli D, Hickman G, Heinz L, Vabres P, Marrakchi S, Leclerc-Mercier S, Irvine A, Tadini G, Hamm H, Has C, Blume-Peytavi U, Mitter D, Reitenbach M, Hausser I, Zimmer AD, Alter S, Fischer J (2019). Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4. Hum Mutat 2019; 40(12): 2318-2333

Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan JL, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Ostern R, Houge G, Hafstrom M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, (2019). Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. Am J Hum Genet 2019; 104(5): 815-834

Coppola A, Cellini E, Stamberger H, Saarentaus E, Cetica V, Lal D, Djemie T, Bartnik-Glaska M, Ceulemans B, Helen Cross J, Deconinck T, Masi S, Dorn T, Guerrini R, Hoffman-Zacharska D, Kooy F, Lagae L, Lench N, Lemke JR, Lucenteforte E, Madia F, Mefford HC, Morrogh D, Nuernberg P, Palotie A, Schoonjans AS, Striano P, Szczepanik E, Tostevin A, Vermeesch JR, Van Esch H, Van Paesschen W, Waters JJ, Weckhuysen S, Zara F, De Jonghe P, Sisodiya SM, Marini C (2019). Diagnostic implications of genetic copy number variation in epilepsy plus. Epilepsia 2019; 60(4): 689-706

Diets IJ, Hoyer J, Ekici AB, Popp B, Hoogerbrugge N, van Reijmersdal SV, Bhaskaran R, Hadjihannas M, Vasileiou G, Thiel CT, Seven D, Uebe S, Ilencikova D, Waanders E, Mavinkurve-Groothuis AMC, Roeleveld N, de Krijger RR, Wegert J, Graf N, Vokuhl C, Agaimy A, Gessler M, Reis A, Kuiper RP, Jongmans MCJ, Metzler M (2019). TRIM28 haploinsufficiency predisposes to Wilms tumor. Int J Cancer 2019; 145(4): 941-951

ulovic-Mahlow M, Trinh J, Kandaswamy KK, Braathen GJ, Di Donato N, Rahikkala E, Beblo S, Werber M, Krajka V, Busk OL, Baumann H, Al-Sannaa NA, Hinrichs F, Affan R, Navot N, Al Balwi MA, Oprea G, Holla OL, Weiss MER, Jamra RA, Kahlert AK, Kishore S, Tveten K, Vos M, Rolfs A, Lohmann K (2019). De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders. Am J Hum Genet 2019; 105(1): 213-220

Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K, Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Buttner B, Mefford HC, Muir AM, Scheffer IE, R (2019). Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun 2019; 10(1): 4679-

Hauer NN, Popp B, Taher L, Vogl C, Dhandapany PS, Buttner C, Uebe S, Sticht H, Ferrazzi F, Ekici AB, De Luca A, Klinger P, Kraus C, Zweier C, Wiesener A, Jamra RA, Kunstmann E, Rauch A, Wieczorek D, Jung AM, Rohrer TR, Zenker M, Doerr HG, Reis A, Thiel CT (2019). Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. Eur J Hum Genet 2019; 27(7): 1061-1071

Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Dukic D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Kohle (2019). PEDIA: prioritization of exome data by image analysis. Genet Med 2019; 21(12): 2807-2814

Knaup KX, Büttner-Herold M, Popp B, Stoeckert J, Schiffer M, Schueler M, Reis A, Amann K, Ekici AB, Wiesener MS (2019). The Dilemma of Regularly Missed Diagnoses: ADTKD Arch Clin Med 2019; 3: 500-507

Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Ounap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Mart (2019). CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genet Med 2019; 21(12): 2723-2733

Li J, Zhang J, Tang W, Mizu RK, Kusumoto H, XiangWei W, Xu Y, Chen W, Amin JB, Hu C, Kannan V, Keller SR, Wilcox WR, Lemke JR, Myers SJ, Swanger SA, Wollmuth LP, Petrovski S, Traynelis SF, Yuan H (2019). De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases. Hum Mutat 2019; 40(12): 2393-2413

Moller RS, Hammer TB, Rubboli G, Lemke JR, Johannesen KM (2019). From next-generation sequencing to targeted treatment of non-acquired epilepsies. Expert Rev Mol Diagn 2019; 19(3): 217-228

O Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Curro A, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Heron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, (2019). Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet 2019; 104(6): 1210-1222

Ottlewski I, Munch J, Wagner T, Schonauer R, Bachmann A, Weimann A, Hentschel J, Lindner TH, Seehofer D, Bergmann C, Jamra RA, Halbritter J (2019). Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease. Kidney Int 2019; 96(1): 222-230

Paech C, Wagner F, Strehlow V, Gebauer RA (2019). Drug-Induced Loss of Preexcitation in Pediatric Patients with WPW Pattern During Electrophysiologic Study. Pediatr Cardiol 2019; 40(1): 194-197

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadalo L, Aalfs CM, Agata S, Aittomaki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmana J, Barbieri E, Bartram CR, Blanco A, Blumcke B, Bonache S, Bonanni B, Borg A, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldes T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Dar (2019). Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Hum Mutat 2019; 40(9): 1557-1578

Renner S, Schuler H, Alawi M, Kolbe V, Rybczynski M, Woitschach R, Sheikhzadeh S, Stark VC, Olfe J, Roser E, Seggewies FS, Mahlmann A, Hempel M, Hartmann MJ, Hillebrand M, Wieczorek D, Volk AE, Kloth K, Koch-Hogrebe M, Abou Jamra R, Mitter D, Altmuller J, Wey-Fabrizius A, Petersen C, Rau I, Borck G, Kubisch C, Mir TS, von Kodolitsch Y, Kutsche K, Rosenberger G (2019). Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. Genet Med 2019; 21(8): 1832-1841

Richard EM, Polla DL, Assir MZ, Contreras M, Shahzad M, Khan AA, Razzaq A, Akram J, Tarar MN, Blanpied TA, Ahmed ZM, Abou Jamra R, Wieczorek D, van Bokhoven H, Riazuddin S, Riazuddin S (2019). Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly. Am J Hum Genet 2019; 105(4): 869-878

Rockstroh D, Pfaffle H, Le Duc D, Rossler F, Schlensog-Schuster F, Heiker JT, Kratzsch J, Kiess W, Lemke JR, Abou Jamra R, Pfaffle R (2019). A new p.(Ile66Serfs*93) IGF2 variant is associated with pre- and postnatal growth retardation. Eur J Endocrinol 2019; 180(1): 1-13

Seitz AT, Sterz H, Strehlow V, Nagel S, Dumann K, Grunewald S, Simon JC, Kunz M (2019). Full ablative versus fractional ablative laser therapy for Dowling-Degos disease. Lasers Surg Med 2019; 51(4): 321-324

Sepahi I, Faust U, Sturm M, Bosse K, Kehrer M, Heinrich T, Grundman-Hauser K, Bauer P, Ossowski S, Susak H, Varon R, Schrock E, Niederacher D, Auber B, Sutter C, Arnold N, Hahnen E, Dworniczak B, Wang-Gorke S, Gehrig A, Weber BHF, Engel C, Lemke JR, Hartkopf A, Nguyen HP, Riess O, Schroeder C (2019). Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women. BMC Cancer 2019; 19(1): 787

Torring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibaek M, Laulund L, Illum N, Dunkhase-Heinl U, Wiesener A, Popp B, Marangi G, Hjortshoj TD, Ek J, Vogel I, Becher N, Roos L, Zollino M, Fagerberg CR (2019). Is MED13L-related intellectual disability a recognizable syndrome? Eur J Med Genet 2019; 62(2): 129-136

Wengert ER, Tronhjem CE, Wagnon JL, Johannesen KM, Petit H, Krey I, Saga AU, Panchal PS, Strohm SM, Lange J, Kamphausen SB, Rubboli G, Lemke JR, Gardella E, Patel MK, Meisler MH, Moller RS (2019). Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy. Epilepsia 2019; 60(11): 2277-2285

XiangWei W, Kannan V, Xu Y, Kosobucki GJ, Schulien AJ, Kusumoto H, Moufawad El Achkar C, Bhattacharya S, Lesca G, Nguyen S, Helbig KL, Cuisset JM, Fenger CD, Marjanovic D, Schuler E, Wu Y, Bao X, Zhang Y, Dirkx N, Schoonjans AS, Syrbe S, Myers SJ, Poduri A, Aizenman E, Traynelis SF, Lemke JR, Yuan H, Jiang Y (2019). Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy. Brain 2019; 142(10): 3009-3027

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Ambrosino P, Soldovieri MV, Bast T, Turnpenny PD, Uhrig S, Biskup S, Docker M, Fleck T, Mosca I, Manocchio L, Iraci N, Taglialatela M, Lemke JR (2018). De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy. Ann Neurol 2018; 83(6): 1198-1204

de Brouwer APM*, Abou Jamra R*, Kortel N, Soyris C, Polla DL, Safra M, Zisso A, Powell CA, Rebelo-Guiomar P, Dinges N, Morin V, Stock M, Hussain M, Shahzad M, Riazuddin S, Ahmed ZM, Pfundt R, Schwarz F, de Boer L, Reis A, Grozeva D, Raymond FL, Riazuddin S, Koolen DA, Minczuk M, Roignant JY, van Bokhoven H, Schwartz S (2018). Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. Am J Hum Genet 2018; 103(6): 1045-1052

Heyne HO, Singh T, Stamberger H, Abou Jamra R, Caglayan H, Craiu D, De Jonghe P, Guerrini R, Helbig KL, Koeleman BPC, Kosmicki JA, Linnankivi T, May P, Muhle H, Moller RS, Neubauer BA, Palotie A, Pendziwiat M, Striano P, Tang S, Wu S, Poduri A, Weber YG, Weckhuysen S, Sisodiya SM, Daly MJ, Helbig I, Lal D, Lemke JR (2018). De novo variants in neurodevelopmental disorders with epilepsy. Nat Genet 2018; 50(7): 1048-1053

Horn S, Leonardelli S, Sucker A, Schadendorf D, Griewank KG, Paschen A (2018). Tumor CDKN2A-Associated JAK2 Loss and Susceptibility to Immunotherapy Resistance. J Natl Cancer Inst 2018; 110(6): 677-681

Jamra R (2018). Genetics of autosomal recessive intellectual disability. Med Genet 2018; 30(3): 323-327

Kortum F, Jamra RA, Alawi M, Berry SA, Borck G, Helbig KL, Tang S, Huhle D, Korenke GC, Hebbar M, Shukla A, Girisha KM, Steinlin M, Waldmeier-Wilhelm S, Montomoli M, Guerrini R, Lemke JR, Kutsche K (2018). Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. Eur J Hum Genet 2018; 26(5): 695-708

Mitter D, Pringsheim M, Kaulisch M, Plumacher KS, Schroder S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, Buttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, Hoft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Riess A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K (2018). FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants. Genet Med 2018; 20(1): 98-108

Platzer K, Cogne B, Hague J, Marcelis CL, Mitter D, Oberndorff K, Park SM, Ploos van Amstel HK, Simonic I, van der Smagt JJ, Stegmann APA, Stevens SJC, Stumpel CTRM, Vincent M, Lemke JR, Jamra R (2018). Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development. Ann Neurol 2018; 84(2): 200-207

Publikationen mit Koautorschaft

Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, Marquardt I, Das AM, Freisinger P, Grunert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Nake A, Lindner M, Heri (2018). Newborn screening: A disease-changing intervention for glutaric aciduria type 1. Ann Neurol 2018; 83(5): 970-979

Carvill GL, Engel KL, Ramamurthy A, Cochran JN, Roovers J, Stamberger H, Lim N, Schneider AL, Hollingsworth G, Holder DH, Regan BM, Lawlor J, Lagae L, Ceulemans B, Bebin EM, Nguyen J, Barsh GS, Weckhu (2018). Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies. Am J Hum Genet 2018; 103(6): 1022-1029

Cassatella D, Howard SR, Acierno JS, Xu C, Papadakis GE, Santoni FA, Dwyer AA, Santini S, Sykiotis GP, Chambion C, Meylan J, Marino L, Favre L, Li J, Liu X, Zhang J, Bouloux PM, Geyter C, Paepe A, Dhi (2018). Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.Eur J Endocrinol 2018; 178(4): 377-388

Charzewska A, Maiwald R, Kahrizi K, Oehl-Jaschkowitz B, Dufke A, Lemke JR, Enders H, Najmabadi H, Tzschach A, Hachmann W, Jensen C, Bienek M, Poznanski J, Nawara M, Chilarska T, Obersztyn E, Hoffman-Z (2018). The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders. Clin Genet 2018; 94(5): 450-456

Fry AE, Fawcett KA, Zelnik N, Yuan H, Thompson BAN, Shemer-Meiri L, Cushion TD, Mugalaasi H, Sims D, Stoodley N, Chung SK, Rees MI, Patel CV, Brueton LA, Layet V, Giuliano F, Kerr MP, Banne E, Meiner (2018). De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Brain 2018; 141(3): 698-712

Gayk ZG, Le Duc D, Horn J, Lindsay AR (2018). Genomic insights into natural selection in the common loon (Gavia immer): evidence for aquatic adaptation. BMC Evol Biol 2018; 18(1): 64

Gieldon L, Mackenroth L, Kahlert AK, Lemke JR, Porrmann J, Schallner J, von der Hagen M, Markus S, Weidensee S, Novotna B, Soerensen C, Klink B, Wagner J, Tzschach A, Jahn A, Kuhlee F, Hackmann K, Sch (2018). Diagnostic value of partial exome sequencing in developmental disorders. PLoS One 2018; 13(8): e0201041

Gillessen-Kaesbach G, Albrecht B, Eggermann T, Elbracht M, Mitter D, Morlot S, van Ravenswaaij-Arts CMA, Schulz S, Strobl-Wildemann G, Buiting K, Beygo J (2018). Molecular and clinical studies in 8 patients with Temple syndrome. Clin Genet 2018; 93(6): 1179-1188

Griewank KG, Wiesner T, Murali R, Pischler C, Muller H, Koelsche C, Moller I, Franklin C, Cosgarea I, Sucker A, Schadendorf D, Schaller J, Horn S, Brenn T, Mentzel T (2018). Atypical fibroxanthoma and pleomorphic dermal sarcoma harbor frequent NOTCH1/2 and FAT1 mutations and similar DNA copy number alteration profiles. Mod Pathol 2018; 31(3): 418-428

Haiduk J, Brockstedt LA, Mitter D, Hiemisch A, Merkenschlager A, Simon JC, Kunz M (2018). [Disseminated linear and irregular pigmentation of the skin]. Hautarzt 2018; 69(10): 870-873

Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Buttn (2018). Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Genet Med 2018; 20(6): 630-638

Hauke J, Horvath J, Gross E, Gehrig A, Honisch E, Hackmann K, Schmidt G, Arnold N, Faust U, Sutter C, Hentschel J, Wang-Gohrke S, Smogavec M, Weber BHF, Weber-Lassalle N, Weber-Lassalle K, Borde J, Er (2018). Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancer Med 2018; 7(4): 1349-1358

Hayer SN, Krey I, Barro C, Rossler F, Kortvelyessy P, Lemke JR, Kuhle J, Schols L (2018). NfL is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. Neurology 2018; 91(16): 755-757

Hollink IHIM, Alfadhel M, Al-Wakeel AS, Ababneh F, Pfundt R, de Man SA, Abou Jamra R, Rolfs A, Bertoli-Avella AM, van de Laar IMBH (2018). Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features. J Hum Genet 2018; 63(4): 539

Jaudszus A, Arnold C, Hentschel J, Hunniger K, Baier M, Mainz JG (2018). Increased cytokines in cystic fibrosis patients upper airways during a new P. aeruginosa colonization. Pediatr Pulmonol 2018; 53(7): 881-887

Kratzsch J, Abou Jamra R, Ziemer M, Simon JC, Treudler R (2018). Smooth velvety hyperextensible skin in a young patient. J Dtsch Dermatol Ges 2018; 16(4): 504-507

Kratzsch J, Abou Jamra R, Ziemer M, Simon JC, Treudler R (2018). Samtig-weiche hyperelastische Haut bei einem jungen Patienten. J Dtsch Dermatol Ges 2018; 16(4): 504-507

Krause-Kyora B, Susat J, Key FM, Kuhnert D, Bosse E, Immel A, Rinne C, Kornell SC, Yepes D, Franzenburg S, Heyne HO, Meier T, Losch S, Meller H, Friederich S, Nicklisch N, Alt KW, Schreiber S, Tholey (2018). Neolithic and medieval virus genomes reveal complex evolution of hepatitis B. Elife 2018; 7: e36666

Lauxmann S, Verbeek NE, Liu Y, Zaichuk M, Muller S, Lemke JR, van Kempen MJA, Lerche H, Hedrich UBS (2018). Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies. Hum Mutat 2018; 39(12): 1942-1956

Mainz JG, Arnold C, Hentschel J, Tabori H (2018). Effects of Ivacaftor in Three Pediatric Siblings With Cystic Fibrosis Carrying the Mutations G551D And F508del. Arch Bronconeumol 2018; 54(4): 232-234

Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thevenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carre (2018). HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. Brain 2018; 141(11): 3160-3178

Mulhern MS, Stumpel C, Stong N, Brunner HG, Bier L, Lippa N, Riviello J, Rouhl RPW, Kempers M, Pfundt R, Stegmann APA, Kukolich MK, Telegrafi A, Lehman A, Lopez-Rangel E, Houcinat N, Barth M, den Holl (2018). NBEA: Developmental disease gene with early generalized epilepsy phenotypes. Ann Neurol 2018; 84(5): 788-795

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, va (2018). Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum Mutat 2018; 39(5): 593-620Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakcalan H, Yilmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahed (2018). Biallelic loss of human CTNNA2, encoding N-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nat Genet 2018; 50(8): 1093-1101

Scheller U, Pfisterer K, Uebe S, Ekici AB, Reis A, Jamra R, Ferrazzi F (2018). Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability. BMC Med Genomics 2018; 11(1): 41

Weber-Lassalle N, Hauke J, Ramser J, Richters L, Gross E, Blumcke B, Gehrig A, Kahlert AK, Muller CR, Hackmann K, Honisch E, Weber-Lassalle K, Niederacher D, Borde J, Thiele H, Ernst C, Altmuller J, N (2018). BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. Breast Cancer Res 2018; 20(1): 7

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Helbig KL, Hedrich UB, Scheffer IE, Helbig I, Lerche H, Lemke JR (2017). Reply. Ann Neurol 2017; 81(2): 328-329

Horn D, Siebert E, Seidel U, Rost I, Mayer K, Abou Jamra R, Mitter D*, Kornak U* (2017). Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. Am J Med Genet A 2017; 173(9): 2534-2538

Le Duc D, Schulz A, Lede V, Schulze A, Thor D, Bruser A, Schoneberg T (2017). P2Y Receptors in Immune Response and Inflammation. Adv Immunol 2017; 136: 85-121

Lemke JR (2017). Commentary: GATOR Complex-Associated Epilepsies. Epilepsia 2017; 58(1): 1121-1122

Lemke JR (2017). High-Throughput Sequencing as First-Tier Diagnostics in Congenital and Early-Onset Disorders. JAMA Pediatr 2017; 171(9): 833-83

Martin S, Chamberlin A, Shinde DN, Hempel M, Strom TM, Schreiber A, Johannsen J, Ousager LB, Larsen MJ, Hansen LK, Fatemi A, Cohen JS, Lemke J, Sorensen KP, Helbig KL, Lessel D, Abou Jamra R (2017). De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities. Am J Hum Genet 2017; 101(6): 1013-1020

Platzer K, Yuan H, Schutz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Stromme P, Biskup S, Docker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Moller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Janse (2017). GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J Med Genet 2017; 54(7): 460-470

Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R (2017). Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. JAMA Psychiatry 2017; 74(3): 293-299

Syrbe S, Harms FL, Parrini E, Montomoli M, Mutze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lammer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Moller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR*, Kutsche K*, Guerrini (2017). Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain 2017; 140(9): 2322-2336

Tawamie H, Martianov I, Wohlfahrt N, Buchert R, Mengus G, Uebe S, Janiri L, Hirsch FW, Schumacher J, Ferrazzi F, Sticht H, Reis A, Davidson I, Colombo R, Abou Jamra R (2017). Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly. Am J Hum Genet 2017; 100(3): 555-561

Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Koster J, Marais A, Paknia O, Schroder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, Abou Jamra R (2017). Clinical exome sequencing: results from 2819 samples reflecting 1000 families. Eur J Hum Genet 2017; 25(2): 176-182

Publikationen mit Koautorschaft

Brechet A, Buchert R, Schwenk J, Boudkkazi S, Zolles G, Siquier-Pernet K, Schaber I, Bildl W, Saadi A, Bole-Feysot C, Nitschke P, Reis A, Sticht H, Al-Sannaa N, Rolfs A, Kulik A et al. (2017). AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability. Nat Commun 2017; 8: 15910

de Kovel CGF, Syrbe S, Brilstra EH, Verbeek N, Kerr B, Dubbs H, Bayat A, Desai S, Naidu S, Srivastava S, Cagaylan H, Yis U, Saunders C, Rook M, Plugge S, Muhle H, Afawi Z, Klein KM, Jayaraman V, Rajag (2017). Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. JAMA Neurol 2017; 74(10): 1228-1236

Dias A, Al-Kali A, Van Dyke D, Niederwieser D, Vucinic V, Lemke J, Muller C, Schwind S, Teichmann AC, Bakken R, Burns LJ, Litzow M (2017). Inversion 3 Cytogenetic Abnormality in an Allogeneic Hematopoietic Cell Transplant Recipient Representative of a Donor-Derived Constitutional Abnormality. Biol Blood Marrow Transplant 2017; 23(9): 1582-1587

Epi4K Consortium, EuroEPINOMICS-RES Consortium (2017). Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data. Eur J Hum Genet 2017; 25(7): 894-899

EuroEPINOMICS-RES Consortium (2017). De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies. Erratum. Am J Hum Genet 2017; 100(1): 179

Hauer NN, Sticht H, Boppudi S, Buttner C, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Jamra RA, Wieczorek D, Kelkel J, Jung AM, Uebe S, Ekici AB, Rohrer T, Reis A, Dorr HG, Thiel CT (2017). Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature. Sci Rep 2017; 7(1): 12225

Klotz KA, Lemke JR, Korinthenberg R, Jacobs J (2017). Vitamin B6-Responsive Epilepsy due to a Novel KCNQ2 Mutation. Neuropediatrics 2017; 48(3): 199-204

Lecarpentier J, Silvestri V, Kuchenbaecker KB, Barrowdale D, Dennis J, McGuffog L, Soucy P, Leslie G, Rizzolo P, Navazio AS, Valentini V, Zelli V, Lee A, Amin Al Olama A, Tyrer JP, Southey M, John EM, (2017). Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores. J Clin Oncol 2017; 35(20): 2240-2250

Low KJ, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S, FitzPatrick DR, Greenslade M, Henderson A, Hurst J, Keller K, Kuentz P, Prescott T, Roessler F, Selmer KK, Schneider MC, Stewart F, Tatton-Brow (2017). PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. Eur J Hum Genet 2017; 25(5): 552-559

Masnada S, Hedrich UBS, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH, Synofzik M, Bast T, Gorman K, King MD, Allen NM, Conroy J, Ben Zeev B, Tzadok M, Korff C, et al. (2017). Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies. Brain 2017; 140(9): 2337-2354

Moller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, Chatron N, Holert N, Jac (2017). Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. Neurology 2017; 88(5): 483-492

Mutze U, Burger F, Hoffmann J, Tegetmeyer H, Heichel J, Nickel P, Lemke JR, Syrbe S, Beblo S (2017). Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings. Mol Genet Metab Rep 2017; 10: 1-4

Neuhaus C, Eisenberger T, Decker C, Nagl S, Blank C, Pfister M, Kennerknecht I, Muller-Hofstede C, Charbel Issa P, Heller R, Beck B, Ruther K, Mitter D, Rohrschneider K, Steinhauer U, Korbmacher HM, H (2017). Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. Mol Genet Genomic Med 2017; 5(5): 531-552

Phelan CM, Kuchenbaecker KB, Tyrer JP, Kar SP, Lawrenson K, Winham SJ, Dennis J, Pirie A, Riggan MJ, Chornokur G, Earp MA, Lyra PC Jr, Lee JM, Coetzee S, Beesley J, McGuffog L, Soucy P, Dicks E etal. (2017). Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Nat Genet 2017; 49(5): 680-691

Redler S, Strom TM, Wieland T, Cremer K, Engels H, Distelmaier F, Schaper J, Kuchler A, Lemke JR, Jeschke S, Schreyer N, Sticht H, Koch M, Ludecke HJ, Wieczorek D (2017). Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID. Eur J Hum Genet 2017; 25(7): 889-893

Rossi M, Chatron N, Labalme A, Ville D, Carneiro M, Edery P, des Portes V, Lemke JR, Sanlaville D, Lesca G (2017). Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. Eur J Hum Genet 2017; 25(3): 376-380

Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shahrour M, Lehmann A, Cogne B, Kury S, Besnard T, Isidor B, Bezieau S, Hazart I, ... Lemke JR et al. (2017). Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet 2017; 100(4): 676-688

Terliesner N, Vogel M, Steighardt A, Gausche R, Henn C, Hentschel J, Kapellen T, Klamt S, Gebhardt J, Kiess W, Prenzel F (2017). Cystic-fibrosis related-diabetes (CFRD) is preceded by and associated with growth failure and deteriorating lung function. J Pediatr Endocrinol Metab 2017; 30(8): 815-821Trujillano D, Oprea GE, Schmitz Y, Bertoli-Avella AM, Abou Jamra R, Rolfs A (2017). A comprehensive global genotype-phenotype database for rare diseases. Mol Genet Genomic Med 2017; 5(1): 66-75Windholz J, Kovacs P, Schlicke M, Franke C, Mahajan A, Morris AP, Lemke JR, Klammt J, Kiess W, Schoneberg T, Pfaffle R, Korner A (2017). Copy number variations in "classical" obesity candidate genes are not frequently associated with severe early-onset obesity in children. J Pediatr Endocrinol Metab 2017; 30(5): 507-515

Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gerard M, Perrin (2017). Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain 2017; 140(5): 1316-1336

Publikationen mit Erst- oder Seniorautorschaft

Buchert R, Nesbitt AI, Tawamie H, Krantz ID, Medne L, Helbig I, Matalon DR, Reis A, Santani A, Sticht H, Abou Jamra R (2016). SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss. Orphanet J Rare Dis 2016; 11(1): 130

Dorn T, Lemke JR (2016). Towards a Molecular Syndromology of the Epilepsies. Mol Syndromol 2016; 7(4): 169-171

Heinemann ML, Hentschel J, Becker S, Prenzel F, Henn C, Kiess W, Tabori H, Lemke J, Ceglarek U, Thiery J (2016). Einführung des deutschlandweiten Neugeborenenscreenings für Mukoviszidose. J Lab Med 2016; 40(6): 373-384

Heinrich-Weltzin R, Baum S, Bertzbach S, Erlecke J, Hentschel J (2016).  Amelogenesis imperfecta ? Eine Genotyp-Phänotyp-Studie. Oralprophylaxe & Kinderzahnheilkunde 2016; 38: 1-8

Helbig KL, Hedrich UB, Shinde DN, Krey I, Teichmann AC, Hentschel J, Schubert J, Chamberlin AC, Huether R, Lu HM, Alcaraz WA, Tang S, Jungbluth C, Dugan SL, Vainionpaa L, Karle KN, Synofzik M, Schols L, Schule R, Lehesjoki AE, Helbig I, Lerche H, Lemke JR (2016). A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. Ann Neurol 2016; 80(4): doi: 10.1002/ana.247

Hentschel J, Tatun D, Parkhomchuk D, Kurth I, Schimmel B, Heinrich-Weltzien R, Bertzbach S, Peters H, Beetz C (2016). Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool. Gene 2016; 590(1): 1-4

Johannesen K, Marini C, Pfeffer S, Moller RS, Dorn T, Niturad C, Gardella E, Weber Y, Sondergard M, Hjalgrim H, Nikanorova M, Becker F, Larsen LH, Dahl HA, Maier O, Mei D, Biskup S, Klein KM, Reif PS, Rosenow F, Elias AF, Hudson C, Helbig KL, Schubert-Bast S, Scordo MR, Craiu D, Djemie T, Hoffman-Zacharska D, Caglayan H, Helbig I, Serratosa J, Striano P, De Jonghe P, Weckhuysen S, Suls A, Muru K, Talvik I, Talvik T, Muhle H, Borggraefe I, Rost I, Guerrini R, Lerche H, Lemke JR, Rubboli G, Maljev (2016). Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. Neurology 2016; 87(11): 1140-1151

Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Caglayan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R (2016). Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. Am J Hum Genet 2016; 99(4): 912-916

Lemke JR, Geider K, Helbig KL, Heyne HO, Schutz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Moller RS, Hjalgrim H, Lal D, Neubauer BA, Nurnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Stromme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sa J, Mendonca C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirl (2016). Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology 2016; 86(23): 2171-2178

Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stulpnagel-Steinbeis C, Hu C, Kusumoto H, Hedrich UB, Elsen G, Hortnagel K, Aizenman E, Lemke JR, Hakonarson H, Traynelis SF, Falk MJ (2016). GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. Am J Hum Genet 2016; 99(4): 802-816

Neubauer BA, Lemke JR (2016). From Genetics to Genomics: A Short Introduction for Pediatric Neurologists. Neuropediatrics 2016; 47(1): 5-11

Passarge E (2016). James L. German, a pioneer in early human genetic research turned 90. Am J Med Genet A 2016; 170(6): 1564-1565

Passarge E, Robinson PN, Graul-Neumann LM (2016). Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy. Eur J Hum Genet 2016; 24(9): 1244-1247

Schwerd T, Khaled AV, Schurmann M, Chen H, Handel N, Reis A, Gillessen-Kaesbach G, Uhlig HH, Abou Jamra R (2016). A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome. Eur J Hum Genet 2016; 24(6): 889-894

Strehlow V, Swinkels ME, Thomas RH, Rapps N, Syrbe S, Dorn T, Lemke JR (2016). Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome. Mol Syndromol 2016; 7(4): 239-246

Publikationen mit Koautorschaft

Balestrini S, Milh M, Castiglioni C, Luthy K, Finelli MJ, Verstreken P, Cardon A, Strazisar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brock (2016). TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. Neurology 2016; 87(1): 77-85

Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG (2016). Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. Am J Hum Genet 2016; 99(1): 228-235

Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG (2016). Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. Am J Hum Genet 2016; 99(3): 785

de Kovel CG, Brilstra EH, van Kempen MJ, Van t Slot R, Nijman IJ, Afawi Z, De Jonghe P, Djemie T, Guerrini R, Hardies K, Helbig I, Hendrickx R, Kanaan M, Kramer U, Lehesjoki AE, Lemke JR, et al (2016). Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. Mol Genet Genomic Med 2016; 4(5): 568-580

Djemie T, Weckhuysen S, von Spiczak S, Carvill GL, Jaehn J, Anttonen AK, Brilstra E, Caglayan HS, de Kovel CG, Depienne C, Gaily E, Gennaro E, Giraldez BG, Gormley P, Guerrero-Lopez R, Guerrini R, Ham (2016). Pitfalls in genetic testing: the story of missed SCN1A mutations. Mol Genet Genomic Med 2016; 4(4): 457-464

Gardella E, Becker F, Moller RS, Schubert J, Lemke JR, Larsen LH, Eiberg H, Nothnagel M, Thiele H, Altmuller J, Syrbe S, Merkenschlager A, Bast T, Steinhoff B, Nurnberg P, Mang Y, Bakke Moller L, Gell (2016). Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol 2016; 79(3): 428-436

Gardella E, Beniczky S, Moller RS, Becker F, Lemke JR, Syrbe S, Eiberg H, Bast T, Steinhoff B, Nurnberg P, Gellert P, Dahl HA, Weckhuysen S, Heron SE, Dibbens LM, Hjalgrim H, Lerche H, Weber YG (2016). Reply: PKD_Not always nomina sunt consequentia rerum. Ann Neurol 2016; 80(1): 168-169

Hackmann K, Rump A, Haas SA, Lemke JR, Fryns JP, Tzschach A, Wieczorek D, Albrecht B, Kuechler A, Ripperger T, Kobelt A, Oexle K, Tinschert S, Schrock E, Kalscheuer VM, Di Donato N (2016). Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities? Am J Med Genet A 2016; 170(A1): 94-102

Heinrich-Weltzin R, Hentschel J, Kühnisch J (2016). Dentinogenesis imperfecta? Ätiologie, Diagnostik und Therapie. Quintessenz 2016; 67(1): 9-23

Hollink IH, Alfadhel M, Al-Wakeel AS, Ababneh F, Pfundt R, de Man SA, Jamra RA, Rolfs A, Bertoli-Avella AM, van de Laar IM (2016). Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features. J Hum Genet 2016; 61(3): 229-233

Janhsen WK, Arnold C, Hentschel J, Lehmann T, Pfister W, Baier M, Boer K, Hunniger K, Kurzai O, Hipler UC, Mainz JG (2016). Colonization of CF patients upper airways with S. aureus contributes more decisively to upper airway inflammation than P. aeruginosa. Med Microbiol Immunol 2016; 205(5): 485-500

Jerber J, Zaki MS, Al-Aama JY, Rosti RO, Ben-Omran T, Dikoglu E, Silhavy JL, Caglar C, Musaev D, Albrecht B, Campbell KP, Willer T, Almuriekhi M, Caglayan AO, Vajsar J, Bilguvar K, Ogur G, Abou Jamra (2016). Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. Am J Hum Genet 2016; 99(5): 1181-1189

Khetarpal SA, Schjoldager KT, Christoffersen C, Raghavan A, Edmondson AC, Reutter HM, Ahmed B, Ouazzani R, Peloso GM, Vitali C, Zhao W, Somasundara AV, Millar JS, Park Y, Fernando G, Livanov V, Choi S (2016). Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents. Cell Metab 2016; 24(2): 234-245

Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, Luttgen S, Aydin H, von Deimling F, Evers C, Hahn A, Hempel M, Issa U, Kahlert AK, Lieb A, Villavicencio-Lorini P, Ballesta-Martin (2016). Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. Genet Med 2016; 18(12): 1226-1234

Kratzsch J, Mitter D, Ziemer M, Kohlhase J, Voth H (2016). Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome. JAMA Dermatol 2016; 152(7): 844-845

Lal D, Reinthaler EM, Dejanovic B, May P, Thiele H, Lehesjoki AE, Schwarz G, Riesch E, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Steinbock H, Gruber-Sedlmayr U, Neophytou B, Zara F, Hahn A, G (2016). Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. PLoS One 2016; 11(3): e0150426

Luther M, Grunauer-Kloevekorn C, Weidle E, Passarge E, Rupprecht A, Hoffmann K, Foja S (2016). [TGC Repeats in Intron 2 of the TCF4 Gene have a Good Predictive Power Regarding to Fuchs Endothelial Corneal Dystrophy]. Klin Monbl Augenheilkd 2016; 233(2): 187-194

Mainz JG, Schumacher U, Schadlich K, Hentschel J, Koitschev C, Koitschev A, Riethmuller J, Prenzel F, Sommerburg O, Wiedemann B, Staab D, Gleiber W, Fischer R, Beck JF, Arnold C (2016). Sino nasal inhalation of isotonic versus hypertonic saline (6.0%) in CF patients with chronic rhinosinusitis - Results of a multicenter, prospective, randomized, double-blind, controlled trial. J Cyst Fibros 2016; 15(6): 57-66

Maljevic S, Vejzovic S, Bernhard MK, Bertsche A, Weise S, Docker M, Lerche H, Lemke JR, Merkenschlager A, Syrbe S (2016). Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures. Mol Syndromol 2016; 7(4): 189-196

Miehle K, Porrmann J, Mitter D, Stumvoll M, Glaser C, Fasshauer M, Hoffmann K (2016). Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3. Clin Endocrinol (Oxf) 2016; 84(1): 141-148

Mignot C, von Stulpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybala M, Yis U, Caglayan H, Is (2016). Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. J Med Genet 2016; 53(8): 511-522

Muller B, Wilcke A, Boulesteix AL, Brauer J, Passarge E, Boltze J, Kirsten H (2016). Improved prediction of complex diseases by common genetic markers: state of the art and further perspectives. Hum Genet 2016; 135(3): 259-272

Oberstadt M, Mitter D, Classen J, Baum P (2016). Late onset dHMN II caused by c.404C>G mutation in HSPB1 gene. J Peripher Nerv Syst 2016; 21(2): 111-113

Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destree A, Dil (2016). STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology 2016; 86(10): 954-962

Syrbe S, Zhorov BS, Bertsche A, Bernhard MK, Hornemann F, Mutze U, Hoffmann J, Hortnagel K, Kiess W, Hirsch FW, Lemke JR, Merkenschlager A (2016). Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A. Mol Syndromol 2016; 7(4): 182-188

Wannenmacher B, Mitter D, Kiessling F, Liehr T, Weise A, Siekmeyer M, Kiess W (2016). A 33-year-old male patient with paternal derived duplication of 14q11.2-14q22.1~22.3: clinical course, phenotypic and genotypic findings. J Pediatr Endocrinol Metab 2016; 29(5): 611-616

Publikationen mit Erst- oder Seniorautorschaft

Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, Scheller U, Vasli N, Rafiq MA, Brohi MQ, Mikhailov A, Ayaz M, Bhatti A, Sticht H, Nasr T, Carter MT, Uebe S, Reis A, Ayub M, John P, Kiledjian M, Vincent JB, Jamra RA (2015). Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. Hum Mol Genet 2015; 24(11): 3172-3180

Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, Qin W, Hampson S, Kury S, Tetreault M, Puffenberger EG, Scott JN, Bezieau S, Reis A, Uebe S, Schumacher J, Hegele RA, McLeod DR, Galvez-Peralta M, Majewski J, Ramaekers VT, Nebert DW, Innes AM, Parboosingh JS, Abou Jamra R (2015). Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8. Am J Hum Genet 2015; 97(6): 886-893

Hentschel J, Fischer N, Janhsen WK, Markert UR, Lehmann T, Sonnemann J, Boer K, Pfister W, Hipler UC, Mainz JG (2015). Protease-antiprotease imbalances differ between Cystic Fibrosis patients upper and lower airway secretions. J Cyst Fibros 2015; 14(3): 324-333

Lal D, Steinbrucker S, Schubert J, Sander T, Becker F, Weber Y, Lerche H, Thiele H, Krause R, Lehesjoki AE, Nurnberg P, Palotie A, Neubauer BA, Muhle H, Stephani U, Helbig I, Becker AJ, Schoch S, Hansen J, Dorn T, Hohl C, Luscher N, von Spiczak S, Lemke JR (2015). Investigation of GRIN2A in common epilepsy phenotypes. Epilepsy Res 2015; 115: 95-99

Lemke JR, Syrbe S (2015). Epileptic Encephalopathies in Childhood: The Role of Genetic Testing. Semin Neurol 2015; 35(3): 310-322

Riecken LB, Tawamie H, Dornblut C, Buchert R, Ismayel A, Schulz A, Schumacher J, Sticht H, Pohl KJ, Cui Y, Reis A, Morrison H, Abou Jamra R (2015). Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disability. Hum Mutat 2015; 36(2): 270-278

Stephen LA, Tawamie H, Davis GM, Tebbe L, Nurnberg P, Nurnberg G, Thiele H, Thoenes M, Boltshauser E, Uebe S, Rompel O, Reis A, Ekici AB, McTeir L, Fraser AM, Hall EA, Mill P, Daudet N, Cross C, Wolfrum U, Jamra RA, Davey MG, Bolz HJ (2015). TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). eLife 2015; 10.7554: 08077

Syrbe S, Hedrich UB, Riesch E, Djemie T, Muller S, Moller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Loffler H, Detert K, Dorn T, Vogt H, Kramer G, Schols L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W, Gonzalez M, Zuchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, ..., Lemke JR (2015). De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nat Genet 2015; 47(4): 393-399

Tawamie H, Wohlleber E, Uebe S, Schmal C, Nothen MM, Abou Jamra R (2015). Recurrent null mutation in SPG20 leads to Troyer syndrome. Mol Cell Probes 2015; 29(5): 315-318

Publikationen mit Koautorschaft

Beygo J, Elbracht M, de Groot K, Begemann M, Kanber D, Platzer K, Gillessen-Kaesbach G, Vierzig A, Green A, Heller R, Buiting K, Eggermann T (2015). Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32. Eur J Hum Genet 2015; 23(2): 180-188

Carvill GL, McMahon JM, Schneider A, Zemel M, Myers CT, Saykally J, Nguyen J, Robbiano A, Zara F, Specchio N, Mecarelli O, Smith RL, Leventer RJ, Moller RS, Nikanorova M, Dimova P, Jordanova A, Petrou (2015). Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. Am J Hum Genet 2015; 96(5): 808-815

Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhuttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinri (2015). Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet 2015; 47(7): 803-808

Doht F, Hentschel J, Fischer N, Lehmann T, Markert UR, Boer K, Pfister W, Pletz MW, Guntinas-Lichius O, Mainz JG (2015). Reduced effect of intravenous antibiotic treatment on sinonasal markers in pulmonary inflammation. Rhinology 2015; 53(3): 249-259Evers C, Mitter D, Strobl-Wildemann G, Haug U, Hackmann K, Maas B, Janssen JW, Jauch A, Hinderhofer K, Moog U (2015). Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance? Am J Med Genet A 2015; 167(A): 553-562

Graeber SY, Hug MJ, Sommerburg O, Hirtz S, Hentschel J, Heinzmann A, Dopfer C, Schulz A, Mainz JG, Tummler B, Mall MA (2015). Intestinal Current Measurements Detect Activation of Mutant CFTR in Patients with Cystic Fibrosis with the G551D Mutation Treated with Ivacaftor. Am J Respir Crit Care Med 2015; 192(10): 1252-1255

Guipponi M, Chentouf A, Webling KE, Freimann K, Crespel A, Nobile C, Lemke JR, Hansen J, Dorn T, Lesca G, Ryvlin P, Hirsch E, Rudolf G, Rosenberg DS, Weber Y, Becker F, Helbig I, Muhle H, Salzmann A, (2015). Galanin pathogenic mutations in temporal lobe epilepsy. Hum Mol Genet 2015; 24(11): 3082-3091

Hardies K, May P, Djemie T, Tarta-Arsene O, Deconinck T, Craiu D, Helbig I, Suls A, Balling R, Weckhuysen S, De Jonghe P, Hirst J (2015). Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. Hum Mol Genet 2015; 24(8): 2218-2227

Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, Cole T, Mann J, Seguin JH, Zipf W, Costigan C, Schmiady H, Rostasy M, Kramer M, Kaltenbach S, Rosler B, Georg I, Troppmann E, Tei (2015). Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development. J Med Genet 2015; 52(4): 240-247

Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, Jahn JA, Jepsen B, Gill D, Docker M, Biskup S, McMah (2015). The phenotypic spectrum of SCN8A encephalopathy. Neurology 2015; 84(5): 480-489

Lau M, Platzer K, Tüshans L, Kohl M, Stichtenoth G (2015). Verzögerte Diagnose eines akuten Abdomens - Fünfzehn Tage bis zur Diagnosestellung. Monatschrift Kinderheilkunde 2015; 163(9): 872-876

Muller U, Hentschel J, Janhsen WK, Hunniger K, Hipler UC, Sonnemann J, Pfister W, Boer K, Lehmann T, Mainz JG (2015). Changes of Proteases, Antiproteases, and Pathogens in Cystic Fibrosis Patients Upper and Lower Airways after IV-Antibiotic Therapy. Mediators Inflamm 2015; 2015: 626530

Sonnemann J, Grauel D, Blumel L, Hentschel J, Marx C, Blumrich A, Focke K, Becker S, Wittig S, Schinkel S, Kramer OH, Beck JF (2015). RETRA exerts anticancer activity in Ewings sarcoma cells independent of their TP53 status. Eur J Cancer 2015; 51(7): 841-851

Sukalo M, Tilsen F, Kayserili H, Muller D, Tuysuz B, Ruddy DM, Wakeling E, Orstavik KH, Bramswig NC, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M (2015). DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. Hum Mutat 2015; 36(11): 1112

Buchbeiträge

Lemke JR (2015). From conventional genetic Analysis to next Generation sequencing in diagnostics of epilepsies. In: Moshé: Seizures and Syndromes of onset in the Two First Life. John Libbey , Montrouge (2015); 95-104

Lemke JR (2015). Humangenetik. In: Schöni: Berner Datenhandbuch Pädiatrie. Hans Huber Verlag, Bern (2015); 185-202

Publikationen mit Erst- oder Seniorautorschaft

Hentschel J, Jager M, Beiersdorf N, Fischer N, Doht F, Michl RK, Lehmann T, Markert UR, Boer K, Keller PM, Pletz MW, Mainz JG (2014). Dynamics of soluble and cellular inflammatory markers in nasal lavage obtained from cystic fibrosis patients during intravenous antibiotic treatment. BMC Pulm Med 2014; 14: 82

Hentschel J, Muller U, Doht F, Fischer N, Boer K, Sonnemann J, Hipler C, Hunniger K, Kurzai O, Markert UR, Mainz JG (2014). Influences of nasal lavage collection-, processing- and storage methods on inflammatory markers--evaluation of a method for non-invasive sampling of epithelial lining fluid in cystic fibrosis and other respiratory diseases. J Immunol Methods 2014; 404: 41-51

Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, James VM, Pepler A, Steiner I, Hortnagel K, Neidhardt J, Ruf S, Wolff M, Bartholdi D, Caraballo R, Platzer K, Suls A, De Jonghe P, Biskup S, Weckhuysen S (2014). GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. Ann Neurol 2014; 75(1): 147-154

Lemke JR, Kernland-Lang K, Hortnagel K, Itin P (2014). Monogenic human skin disorders. Dermatology 2014; 229(2): 55-64

Platzer K, Huning I, Obieglo C, Schwarzmayr T, Gabriel R, Strom TM, Gillessen-Kaesbach G, Kaiser FJ (2014). Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. Am J Med Genet A 2014; 164A(8): 1976-1980

Publikationen mit Koautorschaft

Appenzeller S, Balling R, Barisic N, Baulac S, Caglayan H, Craiu D, De Jonghe P, Depienne C, Dimova P, Djémié T, Gormley P, Guerrini R, Helbig I, Hjalgrim H, Hoffman-Zacharska D, Jähn J, Klein KM, Koe (2014). De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. Am J Hum Genet 2014; 95(4): 360-370Ezgu F, Krejci P, Li S, de Sousa C, Graham J Jr, Hansmann I, He W, Porpora K, Wand D, Wertelecki W, Schneider A, Wilcox W (2014). Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome. Clin Genet 2014; 86(1): 74-84

Fischer N, Hentschel J, Markert UR, Keller PM, Pletz MW, Mainz JG (2014). Non-invasive assessment of upper and lower airway infection and inflammation in CF patients. Pediatr Pulmonol 2014; 49(11): 1065-1075

Lal D, Reinthaler EM, Schubert J, Muhle H, Riesch E, Kluger G, Jabbari K, Kawalia A, Baumel C, Holthausen H, Hahn A, Feucht M, Neophytou B, Haberlandt E, ...Thiele H, Lemke JR, et al. (2014). DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol 2014; 75(5): 788-792

Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cances C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O, Robbiano A, Keren B, Agher D, Roze E, Lesage S, (2014) De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nat Genet 2014; 46(6): 640-645

Pietzner V, Weigel JF, Wand D, Merkenschlager A, Bernhard MK (2014). Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature. J Pediatr Endocrinol Metab 2014; 27(1-2): 165-170

Schilling S, Gebauer C, Knüpfer M, Pulzer F, Bläser A, Mitter D, Heinritz W, Pernice W, Hirsch FW, Thome U (2014). Frühgeborenes mit auffälligem Phänotyp. Kinder- und Jugendmedizin hautnah 2014; 29: 106-108

Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Ruschendorf F, et al. (2014). Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nat Genet 2014; 46(12): 1327-1332

Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, et al. (2014). Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome.
Am J Hum Genet 2014; 95(6): 698-707

Publikationen mit Erst- oder Seniorautorschaft

Rump A, Hildebrand L, Tzschach A, Ullmann R, Schrock E, Mitter D (2013). A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring. Eur J Hum Genet 2013; 21(8): 887-90

Publikationen mit Koautorschaft

Dreifuss M (2013). [A case from practice (177). Acute hepatitis B]. Schweiz Rundsch Med Prax 2013; 79(20): 643-644

Eckl KM, Tidhar R, Thiele H, Oji V, Hausser I, Brodesser S, Preil ML, Onal-Akan A, Stock F, Muller D, Becker K, Casper R, Nurnberg G, Altmuller J, Nurnberg P, Traupe H, Futerman AH, Hennies HC (2013). Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. J Invest Dermatol 2013; 133(9): 2202-2211

Fischer C, Kuchenbacker K, Engel C, Zachariae S, Rhiem K, Meindl A, Rahner N, Dikow N, Plendl H, Debatin I, Grimm T, Gadzicki D, Flottmann R, Horvath J, Schrock E, Stock F, Schafer D, Schwaab I, Karts (2013). Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium. J Med Genet 2013; 50(6): 360-367

Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Haussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik (2013). SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. Brain 2013; 136(Pt12): 3634-3644

Starke S, Meinke P, Camozzi D, Mattioli E, Pfaeffle R, Siekmeyer M, Hirsch W, Horn LC, Paasch U, Mitter D, Lattanzi G, Wehnert M, Kiess W (2013). Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C. Aging (Albany NY) 2013; 5(6): 445-459

Buchbeiträge

Passarge E (2013). Color Atlas of Genetics. In: PassargeE: Color Atlas of Genetics. Thieme Verlag , Stuttgart - New York (2013); 1-496. 4th edition. (Anmerkung des Referat Forschung: bereits 2012 bewertet)

Passarge E, Mitter D (2013). Jahrbuch der Deutschen Gesellschaft für Muskelkranke e.V. In: Dengler R, Neundörfer B, Ganter H: Jahrbuch der Deutschen Gesellschaft für Muskelkranke e. V.2012. AWS Medienverlag GmbH, Ettlingen (2013); 68-69

Publikationen mit Erst- oder Seniorautorschaft

Mitter D, Schanze D, Sterker I, Muller D, Till H, Zenker M (2012). MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features. Mol Syndromol 2012; 3(3): 136-139

Publikationen mit Koautorschaft

Fischer C, Engel C, Sutter C, Zachariae S, Schmutzler R, Meindl A, Heidemann S, Grimm T, Goecke T, Debatin I, Horn D, Wieacker P, Gadzicki D, Becker K, Schafer D, Stock F, Voigtlander T (2012). BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families. Clin Genet 2012; 82(5) : 478-483

Ghani-Kakhki M, Robinson PN, Morlot S, Mitter D, Trimborn M, Albrecht B, Varon R, Sperling K, Neitzel H (2012). Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin. Mol Syndromol 2012; 3(1): 6-13

Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, Ballarati L, Vergult S, Giardino D, Hansson K, Ruivenkamp CA, Jager M, van Haeringen A, Ippel EF, Haaf T, Pas (2012). Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms. Cell Rep 2012; 1(6): 648-655

Buchbeiträge

Passarge E (2012). Color Atlas of Genetics. In: PassargeE: Color Atlas of Genetics. Thieme Verlag , Stuttgart - New York (2012); 1-496

Publikationen mit Erst- oder Seniorautorschaft

Mitter D, Ullmann R, Muradyan A, Klein-Hitpass L, Kanber D, Ounap K, Kaulisch M, Lohmann D (2011). Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions. Eur J Hum Genet 2011; 19(9): 947-958

Publikationen mit Koautorschaft

Mulligan AM, Couch FJ, Barrowdale D, Domchek SM, Eccles D, Nevanlinna H, Ramus SJ, Robson M, Sherman M, ... Heinritz W et al (2011). Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res 2011; 13(6): R110

Buchbeiträge

Passarge E (2011). Darwin und die Medizin. In: Ingensiep HW, Dittrich S: Darwin, die Evolution und die Wissenschaften. Oldib Verlag , Essen (2011); 55-74

Passarge E, Mitter D (2011). Neuromuskuläres Zentrum - Institut für Humangenetik. In: Dengler R, Neundörfer B, Ganter H: Jahrbuch der Deutschen Gesellschaft für Muskelkranke e.V. Patient und Gesundheit e.K., Leichlingen (2011); 1-2

Publikationen mit Erst- oder Seniorautorschaft

Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E (2010). Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. Am J Med Genet A 2010; 152(11): 2749-2755

Mitter D, Chiaie BD, Ludecke HJ, Gillessen-Kaesbach G, Bohring A, Kohlhase J, Caliebe A, Siebert R, Roepke A, Ramos-Arroyo MA, Nieva B, Menten B, Loeys B, Mortier G, Wieczorek D (2010). Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1. Am J Med Genet A 2010; 152(5): 1213-1224

Buchbeiträge

Passarge E, Mitter D (2010). Neuromuskuläres Zentrum - Institut für Humangenetik. In: Dengler R, Neundörfer B, Ganter H: Jahrbuch der Deutschen Gesellschaft für Muskelkranke e.V. 2010 Verlag Patient und Gesundheit e.K., Leichlingen (2010); 59-60

Abfrage Publikationen mit Erst- oder Seniorautorschaft

Briest S, Winkelmann C, Meyer A, Froster UG (2009). Brustkrebs. Patientenbroschüre. Sächsische Krebsgesellschaft 2009; 10: 1-62

Ehrhardt N, Kujat A, Faber R, Horn LC, Froster UG (2009). Potential errors with rapid analysis techniques: partial duplication 21q resulting from a paternal paracentric insertion uncovered in chorionic villus sampling by fluorescence in situ hybridization. Fetal Diagn Ther 2009; 26(4): 219-222

Heinritz W, Huffmeier U, Strenge S, Miterski B, Zweier C, Leinung S, Bohring A, Mitulla B, Peters U, Froster UG (2009). New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. Ann Hum Genet 2009; 73(Pt3): 283-291

Skrzypczak-Zielinska M, Sulek-Piatkowska A, Mierzejewski M, Froster UG (2009). New analysis method of myotonic dystrophy 1 based on quantitative fluorescent polymerase chain reaction. Genet Test Mol Biomarkers 2009; 13(5): 651-655

Abfrage Publikationen mit Koautorschaft

Graeser MK, Engel C, Rhiem K, Gadzicki D, Bick U, Kast K, Froster UG, Schlehe B, Bechtold A, Arnold N, Preisler-Adams S, Nestle-Kraemling C, Zaino M, Loeffler M, Kiechle M, Meindl A, Varga D, Schmutzl (2009). Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 2009; 27(35): 5887-5892

Gruenauer-Kloevekorn C, Braeutigam S, Froster UG, Duncker GI (2009). Surgical outcome after phototherapeutic keratectomy in patients with TGFBI-linked corneal dystrophies in relation to molecular genetic findings. Graefes Arch Clin Exp Ophthalmol 2009; 247(1): 93-99
 
Gruenauer-Kloevekorn C, Clausen I, Weidle E, Wolter-Roessler M, Tost F, Volcker HE, Schulze DP, Heinritz W, Reinhardt T, Froster UG, Duncker GI, Schorderet D, Auw-Haedrich C (2009). TGFBI (BIGH3) gene mutations in German families- two novel mutations associated with unique clinical and histopathological findings. Br J Ophthalmol 2009; 93(7): 932-937

Osorio A, Milne RL, Pita G, Peterlongo P, Heikkinen T, Simard J, Chenevix-Trench G, Spurdle AB, Beesley J, Chen X, Healey S, Neuhausen SL, Ding YC, Couch FJ, Wang X, Lindor N, Manoukian S, Barile M, V (2009). Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA). Br J Cancer 2009; 101(12): 2048-2054

Rebbeck TR, Antoniou AC, Llopis TC, Nevanlinna H, Aittomäki K, ....Froster UG, Chenevix-Trench G, Easton DF (2009). No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study. Breast Cancer Res Treat 2009; 115(1): 185-192

Sinilnikova OM, Antoniou AC, Simard J, Healey S, Leone M, Sinnett D, Spurdle AB, Beesley J, Chen X, Greene MH, Loud JT, Lejbkowicz F, Rennert G, Dishon S, Andrulis IL, Domchek SM, Nathanson KL, Manouk (2009). The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Br J Cancer 2009; 101(8): 1456-1460

Publikationen mit Erst- und Seniorenautorenschaft

Bohm J, Heinritz W, Craig A, Vujic M, Ekman-Joelsson BM, Kohlhase J, Froster U (2008). Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein. BMC Med Genet 2008; 9: 88

Heinritz W, Paasch U, Sticherling M, Wittekind C, Simon JC, Froster UG, Renner R (2008). Evidence for a Founder Effect of the Germline Fumarate Hydratase Gene Mutation R58P causing Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC). Ann Hum Genet 2008; 72(Pt1): 35-40

Heinritz W, Strenge S, Kujat A, Höckel M, Froster UG (2008). Different Phenotypes Including Gynecological Cancer in Three Female Patients with Peutz-Jeghers Syndrome and Mutations in the STK11 Gene. Onkologie 2008; 31(11): 625-628

Kujat A, Bernhard MK, Hirsch W, Merkenschlager A, Froster UG (2008).Tetrasomie 18p - 2-jähriges Mädchen mit einer psychomotorischen Entwicklungsretardierung, Spastik der unteren Extremitäten und kleineren Dysmorphiezeichen. Monatsschr Kinderheilkd 2008; 156(2): 162-165

Renner R, Paasch U, Simon JC, Froster UG, Heinritz W (2008). A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis. J Eur Acad Dermatol Venereol 2008; 22(6): 750-751

Scheid R, Heinritz W, Leyhe T, Thal DR, Schober R, Strenge S, von Cramon DY, Froster UG (2008). Cysteine-sparing notch3 mutations: cadasil or cadasil variants? Neurology 2008; 71(10): 774-776

Strenge S, Froster UG, Kujat A, Bernhard M, Merkenschlager A (2008).[Muscular hypotonia, developmental retardation, speech delay and mildly dysmorphic features: 22q13 deletion syndrome (Phelan-McDermid Syndrome) as an important differential diagnosis]. Klin Padiatr 2008; 220(5): 318-320

Publikationen mit Koautorenschaft

Gruenauer-Kloevekorn C, Braeutigam S, Heinritz W, Froster UG, Duncker GI (2008). Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options. Graefes Arch Clin Exp Ophthalmol 2008; 246(10): 1441-1447

Publikationen mit Erst- und Seniorenautorenschaft

Froster UG (2007). Das Fragile-X-Syndrom. Kinder- und Jugendmedizin 2007; 7(4): 199-202

Froster UG (2007). Editorial: Die Bedeutung der Humangenetik in der Pädiatrie. Kinder- und Jugendmedizin 2007; 7(4): 179

Froster UG, Skrzypczak M (2007). Das Fragile-X-Syndrom. Pädiatr Praxis 2007; 70: 481-490

Heinritz W, Heinritz S, Froster UG (2007). Beckwith-Wiedemann-Syndrom: Erhöhtes Tumorrisiko verlangt Vorsorge. pädiatrie hautnah 2007; 1: 45-47

Kujat A, Strenge S, Froster UG (2007). Genetische Beratung bei Entwicklungstörungen von Kindern. Kinder- und Jugendmedizin 2007; 7(4): 183-187

Kujat A, Veith VP, Faber R, Froster UG (2007). Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with waardenburg syndrome type I. Fetal Diagn Ther 2007; 22(2): 155-158

Strenge S, Froster UG, Berhard MK, Kujat A, Merkenschlager A (2007). CME: Häufige Mikrodeletionssyndrome. Kinder- und Jugendmedizin 2007; 7(4): 189-196

Strenge S, Heinritz W, Zweier C, Rauch A, Rolle U, Merkenschlager A, Froster UG (2007). Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome. Am J Med Genet A 2007; 143(13): 1528-1530

Publikationen mit Koautorenschaft

Bernhard MK, Kantzer AK, Kujat A, Merkenschlager A (2007). 22q11.2 microdeletion with atypical absences, dysmorphia and scoliosis. Monatsschr Kinderheilkd 2007; 155(Suppl 1): S62-S64

Syrbe S, Eberle K, Strenge S, Bernhard MK, Herbertz S, Bierbach U, Hirsch W, Froster UG, Kiess W, Merkenschlager A (2007). [Neurofibromatosis type 1 and associated clinical abnormalities in 27 children]. Klin Padiatr 2007; 219(6): 326-332

Wegner F, Strecker K, Schwarz J, Wagner A, Heinritz W, Sommerer F, Thal DR, Schneider JP, Kendziorra K, Sabri O (2007). Vascular parkinsonism in a CADASIL case with an intact nigrostriatal dopaminergic system. J Neurol 2007; 254(12): 1743-1745

Buchbeiträge

Froster UG, Matzen P (2007). Angeborene Anomalien. In: Matzen P: Kinderorthopädie.
Urban u. Fischer, München . Jena (2007); 321-386

Froster UG, Strenge S (2007). Neuromuskuläres Zentrum Leipzig - Institut für Humangenetik.
In: Dengler R, Neundörfer B, Fischer W: Jahrbuch der Neuromuskulären Erkrankungen 2006. Arcis Verlag, München (2007); 61-62

Publikationen mit Erst- und Seniorenautorenschaft

Falk M, Vojtiskova M, Lukas Z, Kroupova I, Froster U (2006). Simple procedure for automatic detection of unstable alleles in the myotonic dystrophy and Huntingtons disease loci. Genet Test 2006; 10(2): 85-97

Gerber M, Froster UG (2006). Sachsen in der Versorgung von Brustkrebshochrisikofamilien beispiellos in den neuen Ländern. Mitteilungsblatt Sächsische Krebsgesellschaft e.V. 2006; 1: 6-7

Heinritz W, Froster UG (2006). Von-Hippel-Lindau-Syndrom. Mitteilungsblatt Sächsische Krebsgesellschaft e.V. 2006; 4: 19-21

Heinritz W, Grunewald S, Strenge S, Schutz A, Froster UG, Glander HJ, Paasch U, Simon JC (2006). A case of Brooke-Spiegler syndrome with a new mutation in the CYLD gene. Br J Dermatol 2006; 154(5): 992-994

Heinritz W, Zweier C, Froster UG, Strenge S, Kujat A, Syrbe S, Rauch A, Schuster V (2006). A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. Am J Med Genet A 2006; 140(11): 1223-1227

Kujat A, Schulz MD, Strenge S, Froster UG (2006). Renal malformations in deletion 22q11.2 patients. Am J Med Genet A 2006; 140(14): 1601-1602

Kujat A, Veith VP, Faber R, Froster UG (2006). Prenatal Diagnosis and Genetic Counseling in a Case of Spina Bifida in a Family with Waardenburg Syndrome Type I. Fetal Diagn Ther 2006; 22(2): 155-158

Luleyap HU, Alptekin D, Pazarbasi A, Kasap M, Kasap H, Demirhindi H, Mungan N, Ozer G, Froster UG (2006). The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene. Mutat Res 2006; 601: 39-45

Skrzypczak M, Heinritz W, Froster UG (2006). Bedeutung von Mutationen im MYH-Gen bei Familiärer Adenomatöser Polyposis coli (FAP). Mitteilungsblatt Sächsische Krebsgesellschaft e.V. 2006; 1: 16-21

Skrzypczak M, Podralska M, Heinritz W, Froster UG, Lipinski D, Slomski R, Plawski A (2006). MHY Gene Status in Polish FAP Patients without APC Gene Mutations. Hereditary Cancer in Clinical Practice 2006; 4: 43-47

Strenge S, Froster UG (2006). Neuromuskuläres Zentrum Leipzig - Institut für Humangenetik.

Jahrbuch der neuromuskulären Erkrankungen 2006; : 61-62

Strenge S, Kujat A, Zelante L, Froster UG (2006). A microdeletion 22q11.2 can resemble Shprintzen-Goldberg omphalocele syndrome. Am J Med Genet A 2006; 140(24): 2838-2839

Ucar C, Calyskan U, Martini S, Heinritz W (2006). Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). J Pediatr Hematol Oncol 2006; 28(3): 123-125

Publikationen mit Koautorenschaft

Bernhard MK, Herbertz S, Strenge S, Syrbe S, Merkenschlager A (2006). Rezidivierende Muskellähmungen: HNPP als wichtige Differentialdiagnose. Kinder- und Jugendmedizin 2006; 6(6): 369-370

Borozdin W, Bravo Ferrer Acosta AM, Bamshad MJ, Botzenhart EM, Froster UG, Lemke J, Schinzel A, Spranger S, McGaughran J, Wand D, Chrzanowska KH, Kohlhase J (2006).  Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. Hum Mutat 2006; 27(9): 975-976

Grunauer-Kloevekorn C, Braeutigam S, Weidle E, Wolter-Roessler M, Tost F, Auw-Haedrich C, Volcker HE, Heinritz W, Froster U, Duncker G (2006). [Molecular genetic and histopathological examinations for genotype-phenotype analysis in patients with TGFBI-linked corneal dystrophy]. Klin Monatsbl Augenheilkd 2006; 223(10): 829-836

Herbertz S, Berhardt MK, Heinritz W, Müller C, Syrbe S, Merkenschlager A (2006). Zehenspitzengang und Gangunsicherheit als Manifestation einer hereditären sensomotorischen Neuropathie Typ 1A. Kinder- und Jugendmedizin 2006; 6(6): 371-372

Utsch B, DiFeo A, Kujat A, Karle S, Schuster V, Lenk H, Jacobs U, Muller M, Dotsch J, Rascher W, Reutter H, Martignetti JA, Ludwig M, Trobs RB (2006). Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? Am J Med Genet A 2006; 140(20): 2251-2253

Buchbeiträge

Froster UG, Strenge S (2006). Neuromuskuläres Zentrum Leipzig - Institut für Humangenetik.
In: Pongratz D, Dengler R, Neundörfer B, Fischer W: Jahrbuch der Neuromuskulären Erkrankungen 2005. Arcis Verlag, München (2006); 59

Publikationen mit Erst- und Seniorenautorenschaft

Froster UG (2005). Vor dem Test kommt die Beratung (In: Brustkrebs, was jede Frau darüber wissen sollte). Deutsche Krebsgesellschaft e.V. / Brigitte 2005; 1: 13

Froster UG (2005). Editorial: Mut zur frühen Abklärung. pädiatrie hautnah 2005; 4: 169

Gruenauer-Kloevekorn C, Reichel MB, Duncker GI, Froster UG (2005). Molecular genetic and ocular findings in patients with holt-oram syndrome. Ophthalmic Genet 2005; 26(1): 1-8

Heinritz W, Kotzot D, Heinze S, Kujat A, Kleemann WJ, Froster UG (2005). Molecular and cytogenetic characterization of a non-mosaic isodicentric Y chromosome in a patient with Klinefelter syndrome. Am J Med Genet A 2005; 132(2): 198-201

Heinritz W, Moschik A, Kujat A, Spranger S, Heilbronner H, Demuth S, Bier A, Tihanyi M, Mundlos S, Gruenauer-Kloevekorn C, Froster UG (2005). Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome. Heart 2005; 91(3): 383-384

Heinritz W, Pretzsch M, Koall S, Matzen PF, Froster UG (2005). [Hereditary multiple exostoses. Molecular genetic analysis of the EXT1 gene in an unusual family]
Orthopade 2005; 34(5): 470-476

Heinritz W, Shou L, Moschik A, Froster UG (2005). The human TBX5 gene mutation database. Hum Mutat 2005; 26(4): 1-4 (397)

Kujat A, Faber R, Froster UG (2005). Klinik und Diagnostik des Waardenburg-Syndroms Typ 1. pädiatrie hautnah 2005; 3: 148-150

Kujat A, Froster UG (2005). Molekularzytogenetische Untersuchungen mittels Spectral Karyotyping. BIOforum 2005; 28(6): 38-39

Publikationen mit Koautorenschaft

Fischer S, Drenckhahn C, Wolf C, Eschrich K, Kellermann S, Froster UG, Schober R (2005). Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene. Clin Neuropathol 2005; 24(2): 77-85

Grunauer-Kloevekorn C, Brautigam S, Wolter-Roessler M, Tost F, Weidle E, Froster U, Duncker GI (2005). [Molecular Genetic Analysis in the BIGH3 Gene in Lattice and Granular Corneal Dystrophy: Is Indirect Mutation Analysis Recommended?] Klin Monatsbl Augenh 2005; 222(12): 1017-1023

Hoepffner W, Horn LC, Simon E, Sauerbrei G, Schroder H, Thamm-Mucke B, Bennek J, Kiess W (2005). Gonadoblastomas in 5 patients with 46,XY gonadal dysgenesis. Exp Clin Endocrinol Diabetes 2005; 113(4): 231-235

Horn LC, Limbach A, Hoepffner W, Trobs RB, Keller E, Froster UG, Richter CE, Jakubiczka S (2005). Histologic analysis of gonadal tissue in patients with Ullrich-Turner syndrome and derivative Y chromosomes. Pediatr Dev Pathol 2005; 8(2): 197-203

Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster UG, Fuchs S, Montgomery T, Rosler B (2005). SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. Hum Mutat 2005; 26(3): 176-183

Teich N, Nemoda Z, Kohler H, Heinritz W, Mossner J, Keim V, Sahin-Toth M (2005). Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl. Hum Mutat 2005; 25(4): 343-347

Buchbeiträge

Strenge S, Froster UG (2005). Jahresberichte der Neuromuskulären Zentren - Institut f. Humangenetik. In: Pongratz D, Fischer W: Jahrbuch der Neuromuskulären Erkrankungen 2004. Arcis Verlag, München (2005); 58-59

Publikationen mit Erst- und Seniorenautorenschaft

Froster UG, Heinritz W, Bennek J, Horn LC, Faber R (2004). Another case of autosomal dominant exstrophy of the bladder. Prenat Diagn 2004; 24(5): 375-377

Froster UG, Kujat A (2004). Multiple Fehlbildungen durch Cat-eye-Syndrom. pädiatrie hautnah 2004; 5: 274-275

Krupp W, Geiger K, Schober R, Siegert G, Froster UG (2004). Cytogenetic and molecular cytogenetic analyses in diffuse astrocytomas. Cancer Genet Cytogenet 2004; 153(1): 32-38

Köhler L, Kujat A, Krupp W, Meixensberger J, Froster UG (2004). Genetische Veränderungen bei Glioblastomen. Mitteilungsblatt der Sächsischen Krebsgesellschaft 2004; 4: 6-9

Rueffert H, Olthoff D, Deutrich C, Schober R, Froster UG (2004) A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation. Am J Med Genet 2004; 124(3): 248-254

Strenge S, Froster UG (2004). Diaphragmatic hernia in 18p- syndrome. Am J Med Genet 2004; 125(1): 97-99

Strenge S, Froster UG, Wanders RJ, Gartner J, Maier EM, Muntau AC, Faber R (2004). First-trimester increased nuchal translucency as a prenatal sign of Zellweger syndrome. Prenat Diagn 2004; 24(2): 151-153

Strenge S, Heinritz W, Faber R, Froster UG (2004). FFTS - diskordante Anomalien bei monozygoten Zwillingen. pädiatrie hautnah 2004; 8: 451-453

Strenge S, Heinritz W, Froster UG (2004). HNPCC-Syndrom - Hereditäres Nicht Poypöses Colorektales Carcinom. Mitteilungsblatt der Sächsischen Krebsgesellschaft 2004; 1: 23-26

Publikationen mit Koautorenschaft

Stepan H, Faber R, Froster UG, Heinritz W, Wallaschofski H, Dechend R, Walther T, Huppertz B (2004). Pre-eclampsia as a 'three stage problem'--a workshop report. Placenta 2004; 25(6): 585-587

Buchbeiträge

Froster UG (2004). Pränatale Diagnostik. In: Bron D, Pongratz D: Muskeldystrophie Duchenne in der Praxis. Hans Huber Verlag, Bern (2004); 39-50

Heinritz W (2004). Molekulargenetische Mutationsanalyse des APC-Gens mittels DHPLC bei Patienten mit Familiärer Adenomatöser Polyposis (FAP). In: Heinritz W: Molekulargenetische Mutationsanalyse des APC-Gens mittels DHPLC bei Patienten mit Familiärer Adenomatöser Polyposis (FAP). TENEA Verlag für Medien, Berlin (2004); 1-99

Plawski A, Heinritz W, Slomski R (2004). Wykrywanie mutacji metoda DHPLC na przykladzie genu APC. In: Slomski R: Przyklady analiz DNA - pod redakja Ryszarda Slomskiego. Wydawnictwo Akademii Rolniczey im Agusta Cieszkows, Poznan (2004); 107-110

Schmidt B, Gebhardt K, Froster U, Strenge S, Geyer M (2004). Psychologische Beratung im Rahmen eines Früherkennungsprogramms "Familäres Mamma- und Ovarialkarzinom" (Förderung durch die Deutsche Krebshilfe). In: Plöttner G: Psychotherapeutsche Versorgung und Versorgungsforschung. Leipziger Universitätsverlag, Leipzig (2004); 87-97

Strenge S, Froster UG (2004). Jahresberichte der Neuromuskulären Zentren - Institut für Humangenetik. In: Pongratz D, Fischer W: Jahrbuch der Neuromuskulären Erkrankungen 2003 - im Auftrag der Deutschen Gesellschaft für Muskelkranke e.V. Arcis Verlag, München (2004); 46-48