Copyright © 2013 Wiley Periodicals Inc.
Edited By: Richard G.H. Cotton and Garry R. Cutting
Impact Factor: 5.686
ISI Journal Citation Reports © Ranking: 2011: 19/158 (Genetics & Heredity)
Online ISSN: 1098-1004
Recently Published Issues
2012 Special Issues
Essential Human Mutation Special Issues, FREE Online:
"IN THIS ISSUE" Featured Articles
Free access “In This Issue” essays spotlight notable articles in Human Mutation issues.
From Phenotype to Genotype: A New Twist on Identifying Genes Responsible for Inherited Hearing Loss
In Silico Interpretation of the Splicing Code and Estimating the Abundance of Expressed mRNA Isoforms
New Video Highlight
New video highlight created by authors Alexander Bassuk, Benjamin Darbro, and Vinit Mahajan on their recently published Human Mutation paper entitled, "Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy--Walker Malformation and Occipital Cephaloceles."
HGVS Meeting 2013
Clinical Applications of Next Generation Sequencing
8th June 2013
Hotel Concorde La Fayette, Paris, France
17-19 November 2013
Al Bustan Rotana, Dubai
New Virtual Issue
Please see the new 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