Copyright © 2013 Wiley Periodicals Inc.
Edited By: Richard G.H. Cotton and Garry R. Cutting
Impact Factor: 5.213
ISI Journal Citation Reports © Ranking: 2012: 22/161 (Genetics & Heredity)
Online ISSN: 1098-1004
An Overview and Online Registry of Microvillus Inclusion Disease Patients and their MYO5B Mutations
Congenital Heart Defects in Patients with Deletions Upstream of SOX9
A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
Mitochondrial DNA Rearrangements in Health and Disease—A Comprehensive Study
Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases
The ETFDH c.158A>G Variation Disrupts the Balanced Interplay of ESE- and ESS-Binding Proteins thereby Causing Missplicing and Multiple Acyl-CoA Dehydrogenation Deficiency
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.
New Video Highlight
New video highlight created by author, Paulo Gaspar on his recently published Human Mutation paper entitled, "Variobox: Automatic Detection and Annotation of Human Genetic Variants."
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