Publikationen ​PD Dr. med. Jan Halbritter

​2019

• Ottlewski I*, Münch J*, Wagner T, Schönauer R, Bachmann A, Weimann A, Hentschel J, Lindner TH, Seehofer D, Bergmann C, Abou Jamra R, Halbritter J. Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease. Kidney Int. 2019, doi: 10.1016/j.kint.2019.01.038 (equally contributed)
• Schönauer R*, Petzold F*, Lucinescu W, Seidel A, Müller L, Neuber S, Bergmann C, Sayer JA, Werner A, Halbritter J. Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting. Urolithiasis. 2019 Feb 23. doi: 10.1007/s00240-019-01116-2. (equally contributed)
• Amar A, Majmundar AJ, Ullah I, Afzal A, Braun DA, Shril S, Daga A, Jobst-Schwan T, Ahmad M, Sayer JA, Gee HY, Halbritter J, Knöpfel T, Hernando N, Werner A, Wagner C, Khaliq S, Hildebrandt F. Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis. Hum Genet. 2019 Mar;138(3):211-219. doi: 10.1007/s00439-019-01978-x.
• Choi YJ, Halbritter J, Braun DA, Schueler M, Schapiro D, Rim JH, Nandadasa S, Choi WI, Widmeier E, Shril S, Körber F, Sethi SK, Lifton RP, Beck BB, Apte SS, Gee HY, Hildebrandt F. Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy. Am J Hum Genet. 2019 Jan 3;104(1):45-54. doi: 10.1016/j.ajhg.2018. 11.003.

2018

• Hoff S, Epting D, Falk N, Schroda S, Braun DA, Halbritter J, Hildebrandt F, Kramer-Zucker A, Bergmann C, Walz G, Lienkamp SS. The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development. J Biol Chem. 2018 Sep 28;293(39):15243-15255. doi: 10.1074/jbc.RA117.000847.
• Knaup KX, Hackenbeck T, Popp B, Stoeckert J, Wenzel A, Büttner-Herold M, Pfister F, Schueler M, Seven D, May AM, Halbritter J, Gröne HJ, Reis A, Beck BB, Amann K, Ekici AB, Wiesener MS. Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition. J Am Soc Nephrol. 2018 Sep;29(9):2298-2309. doi: 10.1681/ASN.2018030245.
• Fearn A, Allison B, Rice SJ, Edwards N, Halbritter J, Bourgeois S, Pastor-Arroyo EM, Hildebrandt F, Tasic V, Wagner CA, Hernando N, Sayer JA, Werner A. Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations. Physiol Rep. 2018 Jun;6(12):e13715. doi: 10.14814/phy2.13715.
• Fahnert J, Stumpp P, Kahn T, Keller F, Schiekofer S, Petros S, Halbritter J, Lindner TH, Rasche FM. Early Flow Disturbances of Tunnelled Haemodialysis Catheters and Topographic Landmarks in Chest X-Ray. Blood Purif. 2018;46(1):70-76. doi: 10.1159/000486845. 
• Halbritter J, Seidel A, Müller L, Schönauer R, Hoppe B. Update on hereditary kidney stone disease and introduction of a new clinical patient registry in Germany. Front. Pediatr. 2018 6:47.doi: 10.3389/fped.2018.00047
• Daga A, Majmundar AJ, Braun DA, Gee HY, Lawson JA, Shril S, Jobst-Schwan T, Vivante A, Schapiro D, Tan W, Warejko JK, Widmeier E, Nelson CP, Fathy HM, Gucev Z, Soliman NA, Hashmi S, Halbritter J, Halty M, Kari JA, El-Desoky S, Ferguson MA, Somers MJG, Traum AZ, Stein DR, Daouk GH, Rodig NM, Katz A, Hanna C, Schwaderer AL, Sayer JA, Wassner AJ, Mane S, Lifton RP, Milosevic D, Tasic V, Baum MA, Hildebrandt F. Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney Int. 2018 Jan;93(1):204-213. doi: 10.1016/j.kint.2017.06.025.

2017

• Münch J, Bachmann A, Grohmann M, Mayer C, Kirschfink M, Lindner TH, Bergmann C, Halbritter J. Effective immunosuppressive management with belatacept and eculizumab in post-transplant aHUS due to a homozygous deletion of CFHR1/CFHR3 and the presence of CFH antibodies. Clin Kidney J. 2017 Dec;10(6):742-746. doi: 10.1093/ckj/sfx053.
• Macia MS, Halbritter J, Delous M, Bredrup C, Gutter A, Filhol E, Mellgren AEC, Leh S, Bizet A, Braun DA, Gee HY, Silbermann F, Henry C, Krug P, Bole-Feysot C, Nitschké P, Joly D, Nicoud P, Paget A, Haugland H, Brackmann D, Ahmet N, Sandford R, Cengiz N, Knappskog PM, Boman H, Linghu B, Yang F, Oakeley EJ, Saint Mézard P, Sailer AW, Johansson S, Rødahl E, Saunier S, Hildebrandt F, Benmerah A. Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. Am J Hum Genet. 2017 Feb 2;100(2):323-333. doi: 10.1016/j.ajhg.2016.12.011.

2016

• Münch J, Grohmann M, Lindner TH, Bergmann C, Halbritter J. Diagnosing FSGS without kidney biopsy - a novel INF2-mutation in a family with ESRD of unknown origin. BMC Med Genet. 2016 Oct 12;17(1): 73.
• Miernik A, Hein S, Adams F, Halbritter J, Schoenthaler M. [Stone treatment tomorrow and the day after]. Urologe A. 2016 Sep 12. German.
• Anders R, Grohmann M, Lindner TH, Bergmann C, Halbritter J. [Hemolytic kidney failure and transient ischemic attack in a 32-year-old female]. Internist (Berl). 2016 Jun 29. German.
• Gee HY, Jun I, Braun DA, Lawson JA, Halbritter J, Shril S, Nelson CP, Tan W, Stein D, Wassner AJ, Ferguson MA, Gucev Z, Sayer JA, Milosevic D, Baum M, Tasic V, Lee MG, Hildebrandt F. Mutations in SLC26A1 Cause Nephrolithiasis. Am J Hum Genet. 2016 Jun 2;98(6):1228-34. doi: 10.1016/j.ajhg.2016.03.026.
• Braun DA, Lawson JA, Gee HY, Halbritter J, Shril S, Tan W, Stein D, Wassner AJ, Ferguson MA, Gucev Z, Fisher B, Spaneas L, Varner J, Sayer JA, Milosevic D, Baum M, Tasic V, Hildebrandt F. Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis. Clin J Am Soc Nephrol. 2016 Apr 7;11(4):664-72. doi: 10.2215/CJN.07540715.
• Gee HY, Sadowski CE, Aggarwal PK, Porath JD, Yakulov TA, Schueler M, Lovric S, Ashraf S, Braun DA, Halbritter J, Fang H, Airik R, Vega-Warner V, Cho KJ, Chan TA, Morris LG, ffrench-Constant C, Allen N, McNeill H, Büscher R, Kyrieleis H, Wallot M, Gaspert A, Kistler T, Milford DV, Saleem MA, Keng WT, Alexander SI, Valentini RP, Licht C, Teh JC, Bogdanovic R, Koziell A, Bierzynska A, Soliman NA, Otto EA, Lifton RP, Holzman LB, Sibinga NE, Walz G, Tufro A, Hildebrandt F. FAT1 mutations cause a glomerulotubular nephropathy. Nat Commun. 2016 Feb 24;7:10822. doi: 10.1038/ncomms10822.
• Schueler M*, Halbritter J*, Phelps IG, Braun DA, Otto EA, Porath JD, Gee HY, Shendure J, O'Roak BJ, Lawson JA, Nabhan MM, Soliman NA, Doherty D, Hildebrandt F. Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. J Med Genet. 2016 Mar;53(3):208-14. doi: 10.1136/jmedgenet-2015-103304. (equally contributed)
• Braun DA, Schueler M, Halbritter J, Gee HY, Porath JD, Lawson JA, Airik R, Shril S, Allen SJ, Stein D, Al Kindy A, Beck BB, Cengiz N, Moorani KN, Ozaltin F, Hashmi S, Sayer JA, Bockenhauer D, Soliman NA, Otto EA, Lifton RP, Hildebrandt F. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int. 2016 Feb;89(2):468-75. [Abstract]

2015

• Bizet AA, Becker-Heck A, Ryan R, Weber K, Filhol E, Krug P, Halbritter J, Delous M, Lasbennes MC, Linghu B, Oakeley EJ, Zarhrate M, Nitschké P, Garfa-Traore M, Serluca F, Yang F, Bouwmeester T, Pinson L, Cassuto E, Dubot P, Elshakhs NA, Sahel JA, Salomon R, Drummond IA, Gubler MC, Antignac C, Chibout S, Szustakowski JD, Hildebrandt F, Lorentzen E, Sailer AW, Benmerah A, Saint-Mezard P, Saunier S. Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization. Nat Commun. 6: 8666, 2015 [PDF]
• Hilger AC*, Halbritter J*, Pennimpede T, van der Ven A, Sarma G, Braun DA, Porath JD, Kohl S, Hwang DY, Dworschak GC, Hermann BG, Pavlova A, El-Maarri O, Nöthen MM, Ludwig M, Reutter H, Hildebrandt F. Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. Hum Mutat. 36: 1150-1154, 2015 [PDF] (equally contributed)
• Perrault I*, Halbritter J*, Porath JD, Gérard X, Braun DA, Gee HY, Fathy HM, Saunier S, Cormier-Daire V, Thomas S, Attié-Bitach T, Boddaert N, Taschner M, Schueler M, Lorentzen E, Lifton RP, Lawson JA, Garfa-Traore M, Otto EA, Bastin P, Caillaud C, Kaplan J, Rozet JM, Hildebrandt F. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. J Med Genet. 52: 657-665, 2015 [PDF] (equally contributed)
• Roberson EC, Dowdle WE, Ozanturk A, Garcia-Gonzalo FR, Li C, Halbritter J, Elkhartoufi N, Porath JD, Cope H, Ashley-Koch A, Gregory S, Thomas S, Sayer JA, Saunier S, Otto EA, Katsanis N, Davis EE, Attié-Bitach T, Hildebrandt F, Leroux MR, Reiter JF. TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. J Cell Biol. 209: 129-142, 2015 [PDF]
• Schueler M, Braun DA, Chandrasekar G, Gee HY, Klasson TD, Halbritter J, Bieder A, Porath JD, Airik R, Zhou W, LoTurco JJ, Che A, Otto EA, Böckenhauer D, Sebire NJ, Honzik T, Harris PC, Koon SJ, Gunay-Aygun M, Saunier S, Zerres K, Bruechle NO, Drenth JP, Pelletier L, Tapia-Páez I, Lifton RP, Giles RH, Kere J, Hildebrandt F. DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. Am J Hum Genet. 96: 81-92, 2015 [PDF]
• Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group, Hildebrandt F. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 26: 1279-1289, 2015 [Abstract]
• Halbritter J, Baum M, Hynes AM, Rice SJ, Thwaites DT, Gucev ZS, Fisher B, Spaneas L, Porath JD, Braun DA, Wassner AJ, Nelson CP, Tasic V, Sayer JA, Hildebrandt F. Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. J Am Soc Nephrol. 26: 543-551, 2015 [Abstract]

2014

• Failler M, Gee HY, Krug P, Joo K, Halbritter J, Belkacem L, Filhol E, Porath JD, Braun DA, Schueler M, Frigo A, Alibeu O, Masson C, Brochard K, Hurault de Ligny B, Novo R, Pietrement C, Kayserili H, Salomon R, Gubler MC, Otto EA, Antignac C, Kim J, Benmerah A, Hildebrandt F, Saunier S. Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. Am J Hum Genet. 94: 905-914, 2014 [PDF]
• Lovric S, Fang H, Vega-Warner V, Sadowski CE, Gee HY, Halbritter J, Ashraf S, Saisawat P, Soliman NA, Kari JA, Otto EA, Hildebrandt F; Nephrotic Syndrome Study Group. Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol. 9: 1109-1116, 2014 [PDF]
• Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD, Rosenfeld M, Ferkol TW, Dell SD, Milla CE, Randell SH, Yin W, Sannuti A, Metjian HM, Noone PG, Noone PJ, Olson CA, Patrone MV, Dang H, Lee HS, Hurd TW, Gee HY, Otto EA, Halbritter J, Kohl S, Kircher M, Krischer J, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Zariwala MA. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med. 189: 707-717, 2014 [PDF]
• Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, Pan R, Cai N, Abdellateef M, Gabriel S, Halbritter J, Hildebrandt F, van Bokhoven H, Gunel M, Gleeson JG. Mutations in CSPP1 lead to classical Joubert syndrome. Am J Hum Genet. 94: 80-86, 2014 [PDF]

2013

• Halbritter J*, Bizet AA*, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am J Hum Genet. 93: 915-925, 2013 [PDF] (equally contributed)
• Austin-Tse C*, Halbritter J*, Zariwala MA, Gilberti RM, Gee HY, Hellman N, Pathak N, Liu Y, Panizzi JR, Patel-King RS, Tritschler D, Bower R, O'Toole E, Porath JD, Hurd TW, Chaki M, Diaz KA, Kohl S, Lovric S, Hwang DY, Braun DA, Schueler M, Airik R, Otto EA, Leigh MW, Noone PG, Carson JL, Davis SD, Pittman JE, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Dell SD, Rosenfeld M, Milla CE, Loges NT, Omran H, Porter ME, King SM, Knowles MR, Drummond IA, Hildebrandt F. Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. Am J Hum Genet. 93: 672-686, 2013 [PDF] (equally contributed)
• Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, Jahnke C, Olbrich H, Werner C, Raidt J, Wallmeier J, Pennekamp P, Dougherty GW, Hjeij R, Gee HY, Otto EA, Halbritter J, Chaki M, Diaz KA, Braun DA, Porath JD, Schueler M, Baktai G, Griese M, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Omran H, Zariwala MA. Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Am J Hum Genet. 93: 711-720, 2013 [PDF]
• Keller M, Schleinitz D, Förster J, Tönjes A, Böttcher Y, Fischer-Rosinsky A, Breitfeld J, Weidle K, Rayner NW, Burkhardt R, Enigk B, Müller I, Halbritter J, Koriath M, Pfeiffer A, Krohn K, Groop L, Spranger J, Stumvoll M, Kovacs P. THOC5: A novel gene involved in HDL-cholesterol metabolism. J Lipid Res. 54: 3170-3176, 2013 [PDF]
• Zariwala MA, Gee HY, Kurkowiak M, Al-Mutairi DA, Leigh MW, Hurd TW, Hjeij R, Dell SD, Chaki M, Dougherty GW, Adan M, Spear PC, Esteve-Rudd J, Loges NT, Rosenfeld M, Diaz KA, Olbrich H, Wolf WE, Sheridan E, Batten TF, Halbritter J, Porath JD, Kohl S, Lovric S, Hwang DY, Pittman JE, Burns KA, Ferkol TW, Sagel SD, Olivier KN, Morgan LC, Werner C, Raidt J, Pennekamp P, Sun Z, Zhou W, Airik R, Natarajan S, Allen SJ, Amirav I, Wieczorek D, Landwehr K, Nielsen K, Schwerk N, Sertic J, Köhler G, Washburn J, Levy S, Fan S, Koerner-Rettberg C, Amselem S, Williams DS, Mitchell BJ, Drummond IA, Otto EA, Omran H, Knowles MR, Hildebrandt F. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Am J Hum Genet. 93: 336-3345, 2013 [PDF]
• Hoff S*, Halbritter J*, Epting D, Frank V, Nguyen TM, van Reeuwijk J, Boehlke C, Schell C, Yasunaga T, Helmstädter M, Mergen M, Filhol E, Boldt K, Horn N, Ueffing M, Otto EA, Eisenberger T, Elting MW, van Wijk JA, Bockenhauer D, Sebire NJ, Rittig S, Vyberg M, Ring T, Pohl M, Pape L, Neuhaus TJ, Elshakhs NA, Koon SJ, Harris PC, Grahammer F, Huber TB, Kuehn EW, Kramer-Zucker A, Bolz HJ, Roepman R, Saunier S, Walz G, Hildebrandt F, Bergmann C, Lienkamp SS. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat Genet. 45: 951-956, 2013 [PDF] (equally contributed)
• Hurd TW, Otto EA, Mishima E, Gee HY, Inoue H, Inazu M, Yamada H, Halbritter J, Seki G, Konishi M, Zhou W, Yamane T, Murakami S, Caridi G, Ghiggeri G, Abe T, Hildebrandt F. Mutation of the Mg²⁺ transporter SLC41A1 results in a nephronophthisis-like phenotype. J Am Soc Nephrol. 24: 967-977, 2013 [Text]
• Halbritter J*, Porath JD*, Diaz KA, Braun DA, Kohl S, Chaki M, Allen SJ, Soliman NA, Hildebrandt F, Otto EA; GPN Study Group. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Hum Genet. 132: 865-884, 2013 [PDF] (equally contributed)

2012

• Halbritter J, Diaz K, Chaki M, Porath JD, Tarrier B, Fu C, Innis JL, Allen SJ, Lyons RH, Stefanidis CJ, Omran H, Soliman NA, Otto EA. High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. J Med Genet. 49: 756-767, 2012 [Abstract]
• Halbritter J, Wittenburg H, Schiefke I, Amann K, Lindner T, Rasche FM. MPA: A treatment option for lymphocytic colitis and mesalamine-induced interstitial nephritis. Inflamm Bowel Dis. 18: E599-E600, 2012 [Abstract]

2011

• Tönjes A, Wittenburg H, Halbritter J, Renner O, Harsch S, Stange EF, Lammert F, Stumvoll M, Kovacs P. Effects of SLC10A2 variant rs9514089 on gallstone risk and serum cholesterol levels- meta-analysis of three independent cohorts. BMC Med Genet. 12: 149, 2011 [PDF]
• Enigk U, Breitfeld J, Schleinitz D, Dietrich K, Halbritter J, Fischer-Rosinsky A, Enigk B, Müller I, Spranger J, Pfeiffer A, Stumvoll M, Kovacs P, Tönjes A. Role of genetic variation in the human sodium-glucose cotransporter 2 gene (SGLT2) in glucose homeostasis. Pharmacogenomics 12: 1119-1126, 2011 [Abstract]
• Schleinitz D, Klöting N, Böttcher Y, Wolf S, Dietrich K, Tönjes A, Breitfeld J, Enigk B, Halbritter J, Körner A, Schön MR, Jenkner J, Tseng YH, Lohmann T, Dreβler M, Stumvoll M, Blüher M, Kovacs P. Genetic and evolutionary analyses of the human bone morphogenetic protein receptor 2 (BMPR2) in the pathophysiology of obesity. PLoS One 6: e16155, 2011 [PDF]
• Halbritter J, Mayer C, Bachmann A, Rasche FM, Uhlmann D, Stumvoll M, Lindner TH. Successful simultaneous pancreas kidney transplantation in maturity-onset diabetes of the young type 5. Transplantation 92: e45-47, 2011

2009

• Halbritter J, Mayer C, Rasche FM, Amann K, Lindner TH. Interstitial Nephritis. Internist 50: 1111-1125, 2009 [PubMed]

2008

• Mayer C, Müller A, Halbritter J, Wirtz H, Stumvoll M. Isolated renal relapse of sarcoidosis under low-dose glucocorticoid therapy. J Gen Intern Med. 23: 879-882, 2008 [PDF]
• Mayer C, Böttcher Y, Kovacs P, Halbritter J, Stumvoll M. Phenotype of a patient with a de novo mutation in the hepatocyte nuclear factor 1beta/maturity-onset diabetes of the young type 5 gene. Metabolism 57: 416-420, 2008 [PubMed]