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Mutation in TDRD9 causes non-obstructive azoospermia in infertile men.
Arafat M, Har-Vardi I, Harlev A, Levitas E, Zeadna A, Abofoul-Azab M, Dyomin V, Sheffield VC, Lunenfeld E, Huleihel M, Parvari R. Arafat M, et al. Among authors: sheffield vc. J Med Genet. 2017 Sep;54(9):633-639. doi: 10.1136/jmedgenet-2017-104514. Epub 2017 May 23. J Med Genet. 2017. PMID: 28536242
Congenital myopathy is caused by mutation of HACD1.
Muhammad E, Reish O, Ohno Y, Scheetz T, Deluca A, Searby C, Regev M, Benyamini L, Fellig Y, Kihara A, Sheffield VC, Parvari R. Muhammad E, et al. Among authors: sheffield vc. Hum Mol Genet. 2013 Dec 20;22(25):5229-36. doi: 10.1093/hmg/ddt380. Epub 2013 Aug 9. Hum Mol Genet. 2013. PMID: 23933735 Free PMC article.
PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction.
Muhammad E, Levitas A, Singh SR, Braiman A, Ofir R, Etzion S, Sheffield VC, Etzion Y, Carrier L, Parvari R. Muhammad E, et al. Among authors: sheffield vc. Hum Mol Genet. 2015 Dec 20;24(25):7227-40. doi: 10.1093/hmg/ddv423. Epub 2015 Oct 12. Hum Mol Genet. 2015. PMID: 26464484 Free PMC article.
Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.
Muhammad E, Leventhal N, Parvari G, Hanukoglu A, Hanukoglu I, Chalifa-Caspi V, Feinstein Y, Weinbrand J, Jacoby H, Manor E, Nagar T, Beck JC, Sheffield VC, Hershkovitz E, Parvari R. Muhammad E, et al. Among authors: sheffield vc. Hum Genet. 2011 Apr;129(4):397-405. doi: 10.1007/s00439-010-0930-4. Epub 2010 Dec 24. Hum Genet. 2011. PMID: 21184099
A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.
Reish O, Aspit L, Zouella A, Roth Y, Polak-Charcon S, Baboushkin T, Benyamini L, Scheetz TE, Mussaffi H, Sheffield VC, Parvari R. Reish O, et al. Among authors: sheffield vc. Hum Mutat. 2016 Aug;37(8):727-31. doi: 10.1002/humu.22998. Epub 2016 May 9. Hum Mutat. 2016. PMID: 27060491 Free PMC article.
360 results