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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2025
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohortSarah Fazal, Harriet Dashnow, Maike F Dohrn, et al.Nature Genetics|May 13, 2024
Genetic mapping across autoimmune diseases reveals shared associations and mechanismsMatthew R Lincoln, Noah Connally, Pierre-Paul Axisa, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2021
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed casesShilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, et al.Science (New York, N.Y.)|October 10, 2024
Somatic mosaicism in schizophrenia brains reveals prenatal mutational processesEduardo A Maury, Attila Jones, Vladimir Seplyarskiy, et al.Nucleic Acids Research|November 9, 2022
FAVOR: functional annotation of variants online resource and annotator for variation across the human genomeHufeng Zhou, Theodore Arapoglou, Xihao Li, et al.Human Mutation|September 6, 2012
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutionsBryony A Thompson, Marc S Greenblatt, Maxime P Vallee, et al.Human Molecular Genetics|November 1, 2016
Variants in angiopoietin-2 (ANGPT2) contribute to variation in nocturnal oxyhaemoglobin saturation levelHeming Wang, Brian E Cade, Han Chen, et al.Cell|June 10, 2022
The Parkinson's disease protein alpha-synuclein is a modulator of processing bodies and mRNA stabilityErinc Hallacli, Can Kayatekin, Sumaiya Nazeen, et al.Nature Communications|August 22, 2013
Genome analysis reveals insights into physiology and longevity of the Brandt's bat Myotis brandtiiInge Seim, Xiaodong Fang, Zhiqiang Xiong, et al.Science (New York, N.Y.)|September 8, 2012
Systematic localization of common disease-associated variation in regulatory DNAMatthew T Maurano, Richard Humbert, Eric Rynes, et al.Pageof 11