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An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR 2nd, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH. Yu HC, et al. Among authors: geiger ea. Am J Hum Genet. 2013 Sep 5;93(3):506-14. doi: 10.1016/j.ajhg.2013.07.022. Am J Hum Genet. 2013. PMID: 24011988 Free PMC article.
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
Coughlin CR 2nd, Scharer GH, Friederich MW, Yu HC, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Coster RV, Powell CA, Swanson MA, Minczuk M, Van Hove JL, Shaikh TH. Coughlin CR 2nd, et al. Among authors: geiger ea. J Med Genet. 2015 Aug;52(8):532-40. doi: 10.1136/jmedgenet-2015-103049. Epub 2015 Mar 18. J Med Genet. 2015. PMID: 25787132
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Baker PR 2nd, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL. Baker PR 2nd, et al. Brain. 2014 Feb;137(Pt 2):366-79. doi: 10.1093/brain/awt328. Epub 2013 Dec 11. Brain. 2014. PMID: 24334290 Free PMC article.
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.
Yu HC, Coughlin CR, Geiger EA, Salvador BJ, Elias ER, Cavanaugh JL, Chatfield KC, Miyamoto SD, Shaikh TH. Yu HC, et al. Among authors: geiger ea. Cold Spring Harb Mol Case Stud. 2016 May;2(3):a000844. doi: 10.1101/mcs.a000844. Cold Spring Harb Mol Case Stud. 2016. PMID: 27148590 Free PMC article.
27 results