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Human Mutation|April 28, 2017
panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnosticsGundula Povysil, Antigoni Tzika, Julia Vogt, et al.Human Mutation|April 26, 2018
Novel CASK mutations in cases with syndromic microcephalyFrancesca Cristofoli, Koen Devriendt, Erica E Davis, et al.Human Mutation|April 27, 2018
Seshat: A Web service for accurate annotation, validation, and analysis of TP53 variants generated by conventional and next-generation sequencingTuomas Tikkanen, Bernard Leroy, Jean Louis Fournier, et al.Human Mutation|May 24, 2018
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar dataAlex Henrie, Sarah E Hemphill, Nicole Ruiz-Schultz, et al.Human Mutation|July 13, 2017
"Matching" consent to purpose: The example of the Matchmaker ExchangeStephanie O M Dyke, Bartha M Knoppers, Ada Hamosh, et al.Human Mutation|May 17, 2018
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemiaAnna Aspesi, Marta Betti, Marika Sculco, et al.Human Mutation|July 4, 2018
Whole genome sequencing and mutation rate analysis of trios with paternal dioxin exposureNguyen Dang Ton, Hidewaki Nakagawa, Nguyen Hai Ha, et al.Human Mutation|July 4, 2018
Rare RELN variants affect Reelin-DAB1 signal transduction in autism spectrum disorderSandra M Sánchez-Sánchez, Juliana Magdalon, Karina Griesi-Oliveira, et al.Human Mutation|July 7, 2018
A characterization of postzygotic mutations identified in monozygotic twinsKlaasjan G Ouwens, Rick Jansen, Bas Tolhuis, et al.Human Mutation|July 17, 2018
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosisAlrun Hotz, Emmanuelle Bourrat, Julia Küsel, et al.Pageof 583