© Wiley Periodicals, Inc.
Edited By: Richard G.H. Cotton and Garry R. Cutting
Impact Factor: 5.144
ISI Journal Citation Reports © Ranking: 2014: 26/167 (Genetics & Heredity)
Online ISSN: 1098-1004
Recently Published Issues
"IN THIS ISSUE" Featured Articles
Free access “In This Issue” essays spotlight notable articles in Human Mutation issues.
Skipping Skin Disease
The Ultimate Guide to DMD Variants
Please see the Virtual Issue, "Recommendations and Standards for the Reporting and Databasing of Genetic Variations", guest edited by Johan den Dunnen and Mauno Vihinen. Articles in this Virtual Issue have been made freely available online.
See also this valuable Virtual Issue on assessing pathogenicity of gene variants – also free online
Richard G.H. Cotton (1940-2015)
Richard G.H. "Dick" Cotton, Founding Co-Editor of Human Mutation, recently passed away -- a tragic loss for our journal and the research community. Please see the article in the August 2015 issue entitled, "In Memoriam: Richard G.H. Cotton (1940–2015)". in which Founding Co-Editor Haig H. Kazazian Jr., Co-Editor Garry R. Cutting, and Managing Editor Mark H. Paalman each share some of their fond memories of Dr. Cotton.
New Video Highlight
New video highlight created by Yuehua Zhang, Liping Wei, and colleagues on their recently published Human Mutation paper entitled, "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “de novo” SCN1A Mutations in Children with Dravet Syndrome."
Essential Human Mutation Special Issues, FREE Online:
Also see these recent focus sections:
Focus on CNV Detection with Diagnostic Arrays - Volume 33, Issue 6
Focus on the NIH Undiagnosed Diseases Program - Volume 33, Issue 4