Anne Griffin

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.

Hagop Youssoufian, Stylianos E. Antonarakis, William R. Bell et al. · PubMed · 1988 · 114 citations

A Novel Deletion in<i>SMPX</i>Causes a Rare form of X-Linked Progressive Hearing Loss in Two Families Due to a Founder Effect

Nelly Abdelfatah, Nancy D. Merner, Jim Houston et al. · Human Mutation · 2012 · 33 citations

Novel Deletion, Genetics, Neurotology +16

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene

Justin A. Pater, Cindy Penney, Darren D. O’Rielly et al. · Human Genetics · 2022 · 20 citations · Full text

A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect

Justin A. Pater, Tammy Benteau, Anne Griffin et al. · Human Genetics · 2016 · 16 citations · Full text

Genetic Testing, Genetics, Pathology +19

Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL

Nelly Abdelfatah, David A. McComiskey, Lance P. Doucette et al. · European Journal of Human Genetics · 2013 · 15 citations · Full text

Biochemistry, Unknown Origin, Natural Sciences +6