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Plos Genetics|March 8, 2013
Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequencyAdam Kiezun, Sara L Pulit, Laurent C Francioli, et al.Plos Genetics|June 3, 2008
Assessing the evolutionary impact of amino acid mutations in the human genomeAdam R Boyko, Scott H Williamson, Amit R Indap, et al.Nature|October 16, 2024
Quantifying constraint in the human mitochondrial genomeNicole J Lake, Kaiyue Ma, Wei Liu, et al.Plos Genetics|December 27, 2022
Leveraging pleiotropy to discover and interpret GWAS results for sleep-associated traitsSung Chun, Sebastian Akle, Athanasios Teodosiadis, et al.Genome Research|May 5, 2012
Mutation mapping and identification by whole-genome sequencingIgnaty Leshchiner, Kristen Alexa, Peter Kelsey, et al.Nature Genetics|October 13, 2020
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathyMaria Kousi, Onuralp Söylemez, Aysegül Ozanturk, et al.Proceedings of the National Academy of Sciences of the United States of America|March 15, 2013
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal ArthrogryposisBertrand Coste, Gunnar Houge, Michael F Murray, et al.Biorxiv : the Preprint Server for Biology|February 26, 2024
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentationsShilpa Nadimpalli Kobren, Mikhail A Moldovan, Rebecca Reimers, et al.Nature Communications|August 6, 2025
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentationsShilpa Nadimpalli Kobren, Mikhail A Moldovan, Rebecca Reimers, et al.Nature Genetics|May 19, 2015
Genome-wide patterns and properties of de novo mutations in humansLaurent C Francioli, Paz P Polak, Amnon Koren, et al.Pageof 11