Copyright © 2015 Wiley Periodicals Inc.
Edited By: Richard G.H. Cotton and Garry R. Cutting
Impact Factor: 5.122
ISI Journal Citation Reports © Ranking: 2013: 25/165 (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
New Video Highlight
New video highlight created by Marika L. Osterbur on her recently published Human Mutation paper entitled, "An Interdomain KCNH2 Mutation Produces An Intermediate Long Qt 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