2023


  1. Petzold F, Schönauer R, Werner A, Halbritter J (2023). Clinical and Functional Assessment of Digenicity in Renal Phosphate Wasting. Nutrients, 15, 1-13.
     
  2. Schönauer R, Jin W, Findeisen C, Valenzuela I, Devlin LA, Murrell J, Bedoukian EC, Pöschla L, Hantmann E, Riedhammer KM, Hoefele J, Platzer K, Biemann R, Campeau PM, Münch J, Heyne H, Hoffmann A, Ghosh A, Sun W, Dong H, Noé F, Wolfrum C, Woods E, Parker MJ, Neatu R, Le Guyader G, Bruel AL, Perrin L, Spiewak H, Missotte I, Fourgeaud M, Michaud V, Lacombe D, Paolucci SA, Buchan JG, Glissmeyer M, Popp B, Blüher M, Sayer JA, Halbritter J (2023). Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions. Am J Hum Genet, 110(6), 998-1007.
     
  3. Lehmann C, Pehnke S, Weimann A, Bachmann A, Dittrich K, Petzold F, Fürst D, de Fallois J, Landgraf R, Henschler R, Lindner TH, Halbritter J, Doxiadis I, Popp B, Münch J (2023). Extended genomic HLA typing identifies previously unrecognized mismatches in living kidney transplantation. Front Immunol, 14, 1094862.
     
  4. Scherer L, Schönauer R, Nemitz-Kliemchen M, Hagemann T, Hantmann E, de Fallois J, Petzold F, Blüher M, Halbritter J (2023). Delta weight loss unlike genetic variation associates with hyperoxaluria after malabsorptive bariatric surgery. Sci Rep, 13, 9029.
     
  5. Majmundar AJ, Widmeier E, Heneghan JF, Daga A, Wu CW, Buerger F, Hugo H, Ullah I, Amar A, Ottlewski I, Braun DA, Jobst-Schwan T, Lawson JA, Zahoor MY, Rodig NM, Tasic V, Nelson CP, Khaliq S, Schönauer R, Halbritter J, Sayer JA, Fathy HM, Baum MA, Shril S, Mane S, Alper SL, Hildebrandt F (2023). OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis. Genet Med, 25, 100351.
     
  6. Schönauer R, Jin W, Findeisen C, Valenzuela I, Devlin LA, Murrell J, Bedoukian EC, Pöschla L, Hantmann E, Riedhammer KM, Hoefele J, Platzer K, Biemann R, Campeau PM, Münch J, Heyne H, Hoffmann A, Ghosh A, Sun W, Dong H, Noé F, Wolfrum C, Woods E, Parker MJ, Neatu R, Le Guyader G, Bruel AL, Perrin L, Spiewak H, Missotte I, Fourgeaud M, Michaud V, Lacombe D, Paolucci SA, Buchan JG, Glissmeyer M, Popp B, Blüher M, Sayer JA, Halbritter J (2023). Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions. Am J Hum Genet, 110, 998-1007.
     
  7. Lehmann C, Pehnke S, Weimann A, Bachmann A, Dittrich K, Petzold F, Fürst D, de Fallois J, Landgraf R, Henschler R, Lindner TH, Halbritter J, Doxiadis I, Popp B, Münch J (2023). Extended genomic HLA typing identifies previously unrecognized mismatches in living kidney transplantation. Front Immunol, 14, 1094862.
     


    8. 2022


  8. de Fallois J, Schenk S, Kowald J, Lindner TH, Engesser M, Münch J, Meigen C, Halbritter J (2022). The diagnostic value of native kidney biopsy in low grade, subnephrotic, and nephrotic range proteinuria: A retrospective cohort study. PLoS One, 17, 0273671.
     
  9. Petzold F, Jin W, Hantmann E, Korbach K, Schönauer R, Halbritter J (2022). Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia. Clin Kidney J, 15, 1333-1339.
     
  10. Sewerin S, Piontek J, Schönauer R, Grunewald S, Rauch A, Neuber S, Bergmann C, Günzel D, Halbritter J (2022). Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly. Genes Dis, 9, 1301-1314.
     
  11. 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, 101, 1039-1053.
     
  12. Sierks D, Schönauer R, Friedrich A, Hantmann E, de Fallois J, Linder N, Fischer J, Herber A, Bergmann C, Berg T, Halbritter J (2022). Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis. JHEP Rep, 4, 100579.
     
  13. Breiderhoff T, Himmerkus N, Meoli L, Fromm A, Sewerin S, Kriuchkova N, Nagel O, Ladilov Y, Krug SM, Quintanova C, Stumpp M, Garbe-Schönberg D, Westernströer U, Merkel C, Brinkhus MA, Altmüller J, Schweiger MR, Müller D, Mutig K, Morawski M, Halbritter J, Milatz S, Bleich M, Günzel D (2022). Claudin-10a Deficiency Shifts Proximal Tubular Cl(-) Permeability to Cation Selectivity via Claudin-2 Redistribution. J Am Soc Nephrol, 33, 699-717.
     


    14. 2021


  14. Knoll T, Halbritter J (2021). 'Case of the Month' from the University Medicine Mannheim: managing a complex stone patient with recurrent stone formation. BJU Int, 127, 402-408.
     
  15. Halbritter J (2021). Genetics of kidney stone disease-Polygenic meets monogenic. Nephrol Ther, 17, 88-94.
     
  16. Münch J, Krüger BM, Weimann A, Wiech T, Reinhard L, Hoxha E, Pfister F, Halbritter J (2021). Posttransplant nephrotic syndrome resulting from NELL1-positive membranous nephropathy. Am J Transplant, 21, 3175-3179.
     
  17. 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, 12, 1-8.
     
  18. Servais A, Thomas K, Dello Strologo L, Sayer JA, Bekri S, Bertholet-Thomas A, Bultitude M, Capolongo G, Cerkauskiene R, Daudon M, Doizi S, Gillion V, Gràcia-Garcia S, Halbritter J, Heidet L, van den Heijkant M, Lemoine S, Knebelmann B, Emma F, Levtchenko E (2021). Cystinuria: clinical practice recommendation. Kidney Int, 99, 48-58.
     
  19. Servais A, Thomas K, Dello Strologo L, Sayer JA, Bekri S, Bertholet-Thomas A, Bultitude M, Capolongo G, Cerkauskiene R, Daudon M, Doizi S, Gillion V, Gràcia-Garcia S, Halbritter J, Heidet L, van den Heijkant M, Lemoine S, Knebelmann B, Emma F, Levtchenko E (2021). Cystinuria: clinical practice recommendation. Kidney Int, 99, 48-58.
     
  20. Kister TS, Remmler J, Schmidt M, Federbusch M, Eckelt F, Isermann B, Richter H, Wehner M, Krause U, Halbritter J, Cundius C, Voigt M, Kehrer A, Telle JM, Kaiser T (2021). Acute kidney injury and its progression in hospitalized patients-Results from a retrospective multicentre cohort study with a digital decision support system. PLoS One, 16, 0254608.
     


    21. 2020


  21. 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, 22, 1374-1383.
     
  22. Krasselt M, Halbritter J, Amann K, Baerwald C, Seifert O (2020). ANCA-positive IgA nephropathy in a patient with ANA-positive long-standing rheumatoid arthritis and type 1 diabetes. Clin Exp Rheumatol, 38 , 241-242.
     
  23. Schönauer R, Jin W, Ertel A, Nemitz-Kliemchen M, Panitz N, Hantmann E, Seidel A, Braun DA, Shril S, Hansen M, Shahzad K, Sandford R, Saunier S, Benmerah A, Bergmann C, Hildebrandt F, Halbritter J (2020). Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment. Kidney Int, 98, 958-969.
     
  24. Münch J, Kirschner KM, Schlee H, Kraus C, Schönauer R, Jin W, Le Duc D, Scholz H, Halbritter J (2020). Autosomal dominant polycystic kidney disease in absence of renal cyst formation illustrates genetic interaction between WT1 and PKD1. J Med Genet, 0, 1-5.
     
  25. Bayraktar S, Nehrig J, Menis E, Karli K, Janning A, Struk T, Halbritter J, Michgehl U, Krahn MP, Schuberth CE, Pavenstädt H, Wedlich-Söldner R (2020). A Deregulated Stress Response Underlies Distinct INF2-Associated Disease Profiles. J Am Soc Nephrol, 31, 1296-1313.
     
  26. Bayraktar S, Nehrig J, Menis E, Karli K, Janning A, Struk T, Halbritter J, Michgehl U, Krahn MP, Schuberth CE, Pavenstädt H, Wedlich-Söldner R (2020). A Deregulated Stress Response Underlies Distinct INF2-Associated Disease Profiles. J Am Soc Nephrol, 31, 1296-1313.
     


    27. 2019


  27. 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, 96, 222-230.
     
  28. Petzold F, Bachmann A, Bergmann C, Helmchen U, Halbritter J (2019). Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation. BMC Nephrol, 20, 340-345.
     
  29. Trawinski H, Karlas T, Seehofer D, Lubbert C, Halbritter J (2019). The Case | Atypical cysts in a patient with autosomal dominant polycystic kidney disease. Kidney Int, 96, 1043-1044.
     
  30. Schonauer R, Petzold F, Lucinescu W, Seidel A, Muller L, Neuber S, Bergmann C, Sayer JA, Werner A, Halbritter J (2019). Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting. Urolithiasis, 47, 511-519.
     
  31. Schonauer R, Seidel A, Grohmann M, Lindner TH, Bergmann C, Halbritter J (2019). Deleterious Impact of a Novel CFH Splice Site Variant in Atypical Hemolytic Uremic Syndrome. Front Genet, 10, 465-471.
     
  32. 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, Knopfel T, Hernando N, Werner A, Wagner C, Khaliq S, Hildebrandt F (2019). Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis. Hum Genet, 138, 211-219.
     
  33. Choi YJ, Halbritter J, Braun DA, Schueler M, Schapiro D, Rim JH, Nandadasa S, Choi WI, Widmeier E, Shril S, Korber F, Sethi SK, Lifton RP, Beck BB, Apte SS, Gee HY, Hildebrandt F (2019). Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy. Am J Hum Genet, 104, 45-54.
     


    34. 2018


  34. Halbritter J, Seidel A, Muller L, Schonauer R, Hoppe B (2018). Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany. Front Pediatr, 6, 47.
     
  35. Seidel A, Müller L, Schönauer R, Halbritter J (2018). Genetik und Mechanismen der Nierensteinbildung ? neu geschaffenes Register für hereditäre Nierensteinleiden und Nephrokalzinose. Nieren- und Hochdruckkrankheiten, 9, 464-471.
     
  36. 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, Halt (2018). Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney Int, 93(1), 204-213.
     
  37. Fahnert J, Stumpp P, Kahn T, Keller F, Schiekofer S, Petros S, Halbritter J, Lindner TH, Rasche FM (2018). Early Flow Disturbances of Tunnelled Haemodialysis Catheters and Topographic Landmarks in Chest X-Ray. Blood Purif, 46, 70-76.
     
  38. Knaup KX, Hackenbeck T, Popp B, Stoeckert J, Wenzel A, Buttner-Herold M, Pfister F, Schueler M, Seven D, May AM, Halbritter J, Grone HJ, Reis A, Beck BB, Amann K, Ekici AB, Wiesener MS (2018). Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition. J Am Soc Nephrol, 29, 2298-2309.
     
  39. 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 (2018). Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations. Physiol Rep, 6, 13715-13722.
     
  40. Hoff S, Epting D, Falk N, Schroda S, Braun DA, Halbritter J, Hildebrandt F, Kramer-Zucker A, Bergmann C, Walz G, Lienkamp SS (2018). The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development. J Biol Chem, 293, 15243-15255.
     


    41. 2017


  41. Munch J, Bachmann A, Grohmann M, Mayer C, Kirschfink M, Lindner TH, Bergmann C, Halbritter J (2017). 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, 10(6), 742-746.
     
  42. Macia MS, Halbritter J, Delous M, Bredrup C, Gutter A, Filhol E, Mellgren AE, Leh S, Bizet A, Braun DA, Gee HY, Silbermann F, Henry C, Krug P, Bole-Feysot C, Nitschke P, Joly D, Nicoud P, Paget A, Hau (2017). Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. Am J Hum Genet, 100(2), 323-333.
     
  43. Macia MS, Halbritter J, Delous M, Bredrup C, Gutter A, Filhol E, Mellgren AE, Leh S, Bizet A, Braun DA, Gee HY, Silbermann F, Henry C, Krug P, Bole-Feysot C, Nitschke P, Joly D, Nicoud P, Paget A, Hau (2017). Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. Correction. Am J Hum Genet, 100(2), 372.
     


    44. 2016


  44. Anders R, Grohmann M, Lindner TH, Bergmann C, Halbritter J (2016). [Hemolytic kidney failure and transient ischemic attack in a 32-year-old female]. Internist (Berl), 57(10), 1022-1028.
     
  45. Munch J, Grohmann M, Lindner TH, Bergmann C, Halbritter J (2016). Diagnosing FSGS without kidney biopsy - a novel INF2-mutation in a family with ESRD of unknown origin. BMC Med Genet, 17(1), 73.
     
  46. Miernik A, Hein S, Adams F, Halbritter J, Schoenthaler M (2016). [Stone treatment tomorrow and the day after]. Urologe A, 55(10), 1309-1316.
     
  47. 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 (2016). Mutations in SLC26A1 Cause Nephrolithiasis. Am J Hum Genet, 98(6), 1228-1234.
     


    48. 2015


  48. 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 (2015). Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. J Am Soc Nephrol, 26(3), 543-551.
     
  49. 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, Bockenhauer D, Sebire NJ, Honzik T, Harris PC, Koon SJ, Gunay- (2015). DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling. Am J Hum Genet, 96(1), 81-92.
     
  50. 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, Nothen MM, Ludwig M, Reutter H, Hildebrandt F (2015). Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. Hum Mutat, 36(12), 1150-1154.
     
  51. Perrault I, Halbritter J, Porath JD, Gerard X, Braun DA, Gee HY, Fathy HM, Saunier S, Cormier-Daire V, Thomas S, Attie-Bitach T, Boddaert N, Taschner M, Schueler M, Lorentzen E, Lifton RP, Lawson JA, (2015). IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. J Med Genet, 52(10), 657-665.
     
  52. 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, Att (2015). TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. J Cell Biol, 209(1), 129-142.
     
  53. 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 (2015). A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol, 26(6), 1279-1289.
     


    54. 2013


  54. Keller M, Schleinitz D, Forster J, Tonjes A, Bottcher Y, Fischer-Rosinsky A, Breitfeld J, Weidle K, Rayner NW, Burkhardt R, Enigk B, Muller I, Halbritter J, Koriath M, Pfeiffer A, Krohn K, Groop L, Sp (2013). THOC5: a novel gene involved in HDL-cholesterol metabolism. J Lipid Res, 54(11), 3170-3176.
     


    55. 2012


  55. Halbritter J, Wittenburg H, Schiefke I, Amann K, Lindner T, Rasche FM (2012). MPA: a treatment option for lymphocytic colitis and mesalamine-induced interstitial nephritis. Inflamm Bowel Dis, 18(3), 599-600.
     


    56. 2011


  56. Schleinitz D, Kloting N, Bottcher Y, Wolf S, Dietrich K, Tonjes A, Breitfeld J, Enigk B, Halbritter J, Korner A, Schon MR, Jenkner J, Tseng YH, Lohmann T, Dressler M, Stumvoll M, Bluher M, Kovacs P (2011). Genetic and evolutionary analyses of the human bone morphogenetic protein receptor 2 (BMPR2) in the pathophysiology of obesity. PLoS One, 6(2), e16155.
     
  57. Enigk U, Breitfeld J, Schleinitz D, Dietrich K, Halbritter J, Fischer-Rosinsky A, Enigk B, Muller I, Spranger J, Pfeiffer A, Stumvoll M, Kovacs P, Tonjes A (2011). Role of genetic variation in the human sodium-glucose cotransporter 2 gene (SGLT2) in glucose homeostasis. Pharmacogenomics, 12(8), 1119-1126.
     
  58. Halbritter J, Mayer C, Bachmann A, Rasche FM, Uhlmann D, Stumvoll M, Lindner TH (2011). Successful simultaneous pancreas kidney transplantation in maturity-onset diabetes of the young type 5. Transplantation, 92(8), 45-47.
     
  59. Tonjes A, Wittenburg H, Halbritter J, Renner O, Harsch S, Stange EF, Lammert F, Stumvoll M, Kovacs P (2011). Effects of SLC10A2 variant rs9514089 on gallstone risk and serum cholesterol levels- meta-analysis of three independent cohorts. BMC Med Genet, 12, e149.
     


    60. 2009


  60. Halbritter J, Mayer C, Rasche FM, Amann K, Lindner TH (2009). [Interstitial nephritis] Internist (Berl), 50(9), 1111-1125.
     


    61. 2008


  61. Mayer C, Bottcher Y, Kovacs P, Halbritter J, Stumvoll M (2008). 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(3), 416-420.
     
  62. Mayer C, Muller A, Halbritter J, Wirtz H, Stumvoll M (2008). Isolated renal relapse of sarcoidosis under low-dose glucocorticoid therapy. J Gen Intern Med, 23(6), 879-882.