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Human Mutation|March 17, 2010
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypesKatherine V Towns, Athina Kipioti, Vernon Long, et al.
Human Genetics|July 8, 1998
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutationsA L DeStefano, L A Cupples, K S Arnos, et al.
Global Health, Epidemiology and Genomics|June 6, 2018
Strengthening human genetics research in Africa: report of the 9th meeting of the African Society of Human Genetics in Dakar in May 2016R Ndiaye Diallo, M Gadji, B J Hennig, et al.
Cancer Prevention Research (Philadelphia, Pa.)|July 25, 2022
Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-upJohn C Mathers, Faye Elliott, Finlay Macrae, et al.
Ophthalmology|April 17, 2017
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by PseudocolobomaLaurence H M Pierrache, Adva Kimchi, Rinki Ratnapriya, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|August 19, 2015
Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 StudyMohammad Movahedi, D Timothy Bishop, Finlay Macrae, et al.
Science (New York, N.Y.)|February 1, 2020
Genetics of schizophrenia in the South African XhosaS Gulsuner, D J Stein, E S Susser, et al.
Science (New York, N.Y.)|November 8, 2008
GENETICS. The Human Variome ProjectRichard G H Cotton, Arleen D Auerbach, Myles Axton, et al.
Human Mutation|July 4, 2012
Human Variome Project country nodes: documenting genetic information within a countryGeorge P Patrinos, Timothy D Smith, Heather Howard, et al.
American Journal of Human Genetics|October 6, 2020
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis PigmentosaSuzanne E de Bruijn, Alessia Fiorentino, Daniele Ottaviani, et al.
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