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Human Mutation|September 17, 2016
BRCA Share: A Collection of Clinical BRCA Gene VariantsChristophe Béroud, Stanley I Letovsky, Corey D Braastad, et al.Human Mutation|September 22, 2016
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the LiteratureJustine Lerat, Laurence Jonard, Natalie Loundon, et al.Human Mutation|September 8, 2016
Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint LaxityJulia Vodopiutz, Shuji Mizumoto, Ekkehart Lausch, et al.Human Mutation|September 8, 2016
Actionable Genes, Core Databases, and Locus-Specific DatabasesAmélie Pinard, Morgane Miltgen, Arnaud Blanchard, et al.Human Mutation|September 21, 2016
Content Analysis of Informed Consent for Whole Genome Sequencing Offered by Direct-to-Consumer Genetic Testing CompaniesEmilia Niemiec, Pascal Borry, Wim Pinxten, et al.Human Mutation|September 3, 2016
Functional SNP in 3'-UTR MicroRNA-Binding Site of ZNF350 Confers Risk for Age-Related CataractShanshan Gu, Han Rong, Guowei Zhang, et al.Human Mutation|September 9, 2016
ExonImpact: Prioritizing Pathogenic Alternative Splicing EventsMeng Li, Weixing Feng, Xinjun Zhang, et al.Human Mutation|June 7, 2017
CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsyKarine Poirier, Laurence Hubert, Géraldine Viot, et al.Human Mutation|June 22, 2017
Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challengesRoxana Daneshjou, Yanran Wang, Yana Bromberg, et al.Human Mutation|May 2, 2017
Exploring the limits of the usefulness of mutagenesis in studies of allosteric mechanismsQingling Tang, Aileen Y Alontaga, Todd Holyoak, et al.Pageof 583