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Page 1
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
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. Majmundar AJ, et al. Among authors: braun da. Genet Med. 2023 Mar;25(3):100351. doi: 10.1016/j.gim.2022.11.019. Epub 2022 Dec 6. Genet Med. 2023. PMID: 36571463 Free PMC article.
Mutations in SLC26A1 Cause Nephrolithiasis.
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. Gee HY, et al. Among authors: braun da. Am J Hum Genet. 2016 Jun 2;98(6):1228-1234. doi: 10.1016/j.ajhg.2016.03.026. Epub 2016 May 19. Am J Hum Genet. 2016. PMID: 27210743 Free PMC article.
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.
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. Amar A, et al. Among authors: braun da. Hum Genet. 2019 Mar;138(3):211-219. doi: 10.1007/s00439-019-01978-x. Epub 2019 Feb 18. Hum Genet. 2019. PMID: 30778725 Free PMC article.
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.
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. Halbritter J, et al. Among authors: braun da. J Am Soc Nephrol. 2015 Mar;26(3):543-51. doi: 10.1681/ASN.2014040388. Epub 2014 Oct 8. J Am Soc Nephrol. 2015. PMID: 25296721 Free PMC article.
Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis.
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. Braun DA, et al. Clin J Am Soc Nephrol. 2016 Apr 7;11(4):664-72. doi: 10.2215/CJN.07540715. Epub 2016 Jan 19. Clin J Am Soc Nephrol. 2016. PMID: 26787776 Free PMC article.
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
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. Daga A, et al. Among authors: braun da. Kidney Int. 2018 Jan;93(1):204-213. doi: 10.1016/j.kint.2017.06.025. Epub 2017 Oct 12. Kidney Int. 2018. PMID: 28893421 Free PMC article.
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.
Braun DA, Warejko JK, Ashraf S, Tan W, Daga A, Schneider R, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Nakayama M, Schapiro D, Rao J, Schmidt JM, Hoogstraten CA, Hugo H, Bakkaloglu SA, Kari JA, El Desoky S, Daouk G, Mane S, Lifton RP, Shril S, Hildebrandt F. Braun DA, et al. Nephrol Dial Transplant. 2019 Mar 1;34(3):485-493. doi: 10.1093/ndt/gfy028. Nephrol Dial Transplant. 2019. PMID: 29534211 Free PMC article.
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.
Braun DA, Shril S, Sinha A, Schneider R, Tan W, Ashraf S, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Daga A, Warejko JK, Nakayama M, Schapiro D, Chen J, Airik M, Rao J, Schmidt JM, Hoogstraten CA, Hugo H, Meena J, Lek M, Laricchia KM, Bagga A, Hildebrandt F. Braun DA, et al. Am J Med Genet A. 2018 Nov;176(11):2460-2465. doi: 10.1002/ajmg.a.40489. Epub 2018 Aug 6. Am J Med Genet A. 2018. PMID: 30079490 Free PMC article.
Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.
Schapiro D, Daga A, Lawson JA, Majmundar AJ, Lovric S, Tan W, Warejko JK, Fessi I, Rao J, Airik M, Gee HY, Schneider R, Widmeier E, Hermle T, Ashraf S, Jobst-Schwan T, van der Ven AT, Nakayama M, Shril S, Braun DA, Hildebrandt F. Schapiro D, et al. Among authors: braun da. Nephrol Dial Transplant. 2019 Mar 1;34(3):474-485. doi: 10.1093/ndt/gfy050. Nephrol Dial Transplant. 2019. PMID: 30295827 Free PMC article.
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.
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. Perrault I, et al. Among authors: braun da. J Med Genet. 2015 Oct;52(10):657-65. doi: 10.1136/jmedgenet-2014-102838. Epub 2015 Aug 14. J Med Genet. 2015. PMID: 26275418 Free PMC article.
168 results