Daniel Rory Evans

Daniel Rory Evans

Memorial University of Newfoundland - St John’s / Canada
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 5615175
person_outline Daniel Rory Evans's MOST POPULAR ARTICLES
1-) Evidence for GALNT12 as a moderate penetrance gene for colorectal cancerDR Evans, S Venkitachalam, L Revoredo, AT Dohey, E Clarke, JJ Pennell, ...Human mutation 39 (8), 1092-1101, 2018262018
2-) A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand featuresDR Evans, JS Green, S Fahiminiya, J Majewski, BA Fernandez, ...Scientific Reports 10 (1), 10827, 2020152020
3-) Novel 25 kb deletion of MERTK causes retinitis pigmentosa with severe progressionDR Evans, JS Green, GJ Johnson, J Schwartzentruber, J Majewski, ...Investigative Ophthalmology & Visual Science 58 (3), 1736-1742, 2017152017
4-) Complex Autism Spectrum Disorder with Epilepsy, Strabismus and Self-Injurious Behaviors in a Patient with a De Novo Heterozygous POLR2A VariantDR Evans, Y Qiao, B Trost, K Calli, S Martell, SJM Jones, SW Scherer, ...Genes 13 (3), 470, 202262022
5-) Screening of BMPR1a for pathogenic mutations in familial colorectal cancer type X families from NewfoundlandDR Evans, JS Green, MO WoodsFamilial Cancer 17, 205-208, 201832018