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Human Mutation|June 16, 2016
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2Nina Bögershausen, Vincent Gatinois, Vera Riehmer, et al.Human Mutation|May 29, 2016
Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2Florentine S Hilbers, Martijn S Luijsterburg, Wouter W Wiegant, et al.Human Mutation|July 31, 2015
Cafe Variome: general-purpose software for making genotype-phenotype data discoverable in restricted or open access contextsOwen Lancaster, Tim Beck, David Atlan, et al.Human Mutation|August 14, 2015
Use of model organism and disease databases to support matchmaking for human disease gene discoveryChristopher J Mungall, Nicole L Washington, Jeremy Nguyen-Xuan, et al.Human Mutation|July 30, 2015
Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer PatientsAnna Ronowicz, Anna Janaszak-Jasiecka, Jarosław Skokowski, et al.Human Mutation|July 30, 2015
GeneMatcher: a matching tool for connecting investigators with an interest in the same geneNara Sobreira, François Schiettecatte, David Valle, et al.Human Mutation|April 28, 2016
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation SyndromeAlexej Knaus, Tomonari Awaya, Ingo Helbig, et al.Human Mutation|April 28, 2016
Three Novel Heterozygous Point Mutations of NR3C1 Causing Glucocorticoid ResistanceGéraldine Vitellius, Jérôme Fagart, Brigitte Delemer, et al.Human Mutation|April 28, 2016
Mitochondrial DNA Variation and Heteroplasmy in Monozygotic Twins Clinically Discordant for Multiple SclerosisNicole Y P Souren, Lisa A Gerdes, Tania Kümpfel, et al.Human Mutation|April 28, 2016
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor ImpairmentMyriam Srour, Véronique Caron, Toni Pearson, et al.Pageof 578