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European Journal of Human Genetics : EJHG|September 27, 2024
Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variantsGaby Schobers, Maartje Pennings, Juliette de Vries, et al.
Genetics in Medicine Open|July 6, 2026
The landscape of variants in pre-mRNA-processing factor genes in an Irish cohortLaura K Finnegan, Anna R Ridgeway, Matthew Carrigan, et al.
Human Mutation|August 29, 2019
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)Dror Sharon, Tamar Ben-Yosef, Nitza Goldenberg-Cohen, et al.
Human Genetics|January 11, 2003
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one familyArjan P M de Brouwer, Ronald J E Pennings, Marjolijn Roeters, et al.
Ophthalmology|March 26, 2017
Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up StudyMays Talib, Mary J van Schooneveld, Maria M van Genderen, et al.
Human Mutation|August 19, 2021
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal diseaseManon H C A Peeters, Mubeen Khan, Anoek A M B Rooijakkers, et al.
HGG Advances|September 14, 2023
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritabilityZelia Corradi, Mubeen Khan, Rebekkah Hitti-Malin, et al.
Investigative Ophthalmology & Visual Science|October 17, 2019
Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 AllelesEsmee H Runhart, Dyon Valkenburg, Stéphanie S Cornelis, et al.
Human Molecular Genetics|April 11, 2015
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)Lonneke Haer-Wigman, Hadas Newman, Rina Leibu, et al.
American Journal of Human Genetics|June 11, 2013
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophySusanne Roosing, Klaus Rohrschneider, Avigail Beryozkin, et al.
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