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Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.
McKnight D, Bean L, Karbassi I, Beattie K, Bienvenu T, Bonin H, Fang P, Chrisodoulou J, Friez M, Helgeson M, Krishnaraj R, Meng L, Mighion L, Neul J, Percy A, Ramsden S, Zoghbi H, Das S. McKnight D, et al. Among authors: percy a. Hum Mutat. 2022 Aug;43(8):1097-1113. doi: 10.1002/humu.24302. Epub 2021 Dec 2. Hum Mutat. 2022. PMID: 34837432 Free PMC article.
A de novo X;3 translocation in Rett syndrome.
Zoghbi HY, Ledbetter DH, Schultz R, Percy AK, Glaze DG. Zoghbi HY, et al. Among authors: percy ak. Am J Med Genet. 1990 Jan;35(1):148-51. doi: 10.1002/ajmg.1320350131. Am J Med Genet. 1990. PMID: 2301468
Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities.
Samaco RC, Mandel-Brehm C, Chao HT, Ward CS, Fyffe-Maricich SL, Ren J, Hyland K, Thaller C, Maricich SM, Humphreys P, Greer JJ, Percy A, Glaze DG, Zoghbi HY, Neul JL. Samaco RC, et al. Among authors: percy a. Proc Natl Acad Sci U S A. 2009 Dec 22;106(51):21966-71. doi: 10.1073/pnas.0912257106. Epub 2009 Dec 9. Proc Natl Acad Sci U S A. 2009. PMID: 20007372 Free PMC article.
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome.
Amir RE, Fang P, Yu Z, Glaze DG, Percy AK, Zoghbi HY, Roa BB, Van den Veyver IB. Amir RE, et al. Among authors: percy ak. J Med Genet. 2005 Feb;42(2):e15. doi: 10.1136/jmg.2004.026161. J Med Genet. 2005. PMID: 15689438 Free PMC article. No abstract available.
382 results