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Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Claus LR, Chen C, Stallworth J, Turner JL, Slaats GG, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, Louie RJ, Silver J, Lerner-Ellis J, Morel C, Mighton C, Sleutels F, van Slegtenhorst M, van Ham T, Brooks AS, Dorresteijn EM, Barakat TS, Dahan K, Demoulin N, Goffin EJ, Olinger E; Genomics England Research Consortium; Larsen M, Hertz JM, Lilien MR, Obeidová L, Seeman T, Stone HK, Kerecuk L, Gurgu M, Yousef Yengej FA, Ammerlaan CME, Rookmaaker MB, Hanna C, Rogers RC, Duran K, Peters E, Sayer JA, van Haaften G, Harris PC, Ling K, Mason JM, van Eerde AM, Steet R. Claus LR, et al. Among authors: mabillard h. Kidney Int. 2023 Nov;104(5):995-1007. doi: 10.1016/j.kint.2023.07.021. Epub 2023 Aug 19. Kidney Int. 2023. PMID: 37598857
UMOD and you! Explaining a rare disease diagnosis.
Mabillard H, Olinger E, Sayer JA. Mabillard H, et al. J Rare Dis (Berlin). 2022;1(1):4. doi: 10.1007/s44162-022-00005-4. Epub 2022 Dec 7. J Rare Dis (Berlin). 2022. PMID: 36569465 Free PMC article. Review.
The Molecular Genetics of Gordon Syndrome.
Mabillard H, Sayer JA. Mabillard H, et al. Genes (Basel). 2019 Nov 29;10(12):986. doi: 10.3390/genes10120986. Genes (Basel). 2019. PMID: 31795491 Free PMC article. Review.
Electrolyte Disturbances in SARS-CoV-2 Infection.
Mabillard H, Sayer JA. Mabillard H, et al. F1000Res. 2020 Jun 10;9:587. doi: 10.12688/f1000research.24441.2. eCollection 2020. F1000Res. 2020. PMID: 33093945 Free PMC article. Review.
Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease.
Olinger E, Phakdeekitcharoen P, Caliskan Y, Orr S, Mabillard H, Pickles C, Tse Y, Wood K; Genomics England Research Consortium; Sayer JA. Olinger E, et al. Among authors: mabillard h. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):109-120. doi: 10.1002/ajmg.c.31964. Epub 2022 Mar 15. Am J Med Genet C Semin Med Genet. 2022. PMID: 35289079 Free PMC article.
Case Report: Renal potassium wasting in SARS-CoV-2 infection.
Mabillard H, Tedd H, Speight A, Duncan C, Price DA, Sayer JA. Mabillard H, et al. F1000Res. 2020 Jun 30;9:659. doi: 10.12688/f1000research.24621.2. eCollection 2020. F1000Res. 2020. PMID: 33299549 Free PMC article.
17 results