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European Journal of Human Genetics : EJHG|May 30, 2020
The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolateJane S Green, Darren D O'Rielly, Justin A Pater, et al.
Scientific Reports|July 4, 2020
A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand featuresDaniel R Evans, Jane S Green, Somayyeh Fahiminiya, et al.
BMC Medical Genetics|November 23, 2012
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotypeBridget A Fernandez, Jane S Green, Ford Bursey, et al.
Human Mutation|May 12, 2018
Evidence for GALNT12 as a moderate penetrance gene for colorectal cancerDaniel R Evans, Srividya Venkitachalam, Leslie Revoredo, et al.
Investigative Ophthalmology & Visual Science|October 26, 2023
Retinal Dystrophy Associated With RLBP1 Retinitis Pigmentosa: A Five-Year Prospective Natural History StudyMarie Burstedt, James H Whelan, Jane S Green, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|June 24, 2010
Increased cancer predisposition in family members of colorectal cancer patients harboring the p.V600E BRAF mutation: a population-based studyTyler A Wish, Angela J Hyde, Patrick S Parfrey, et al.
American Journal of Medical Genetics. Part A|January 8, 2005
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort studySusan J Moore, Jane S Green, Yanli Fan, et al.
Investigative Ophthalmology & Visual Science|March 22, 2017
Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe ProgressionDaniel R Evans, Jane S Green, Gordon J Johnson, et al.
European Journal of Human Genetics : EJHG|December 25, 2008
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15Lance Doucette, Nancy D Merner, Sandra Cooke, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|October 6, 2005
High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genesMichael O Woods, Angela J Hyde, Fiona K Curtis, et al.
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