Copyright © 2014 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
TP53 Mutation Analysis in Clinical Practice: Lessons From Chronic Lymphocytic Leukemia
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients
Identification of a Novel 5′ Alternative CFTR mRNA Isoform in a Patient with Nasal Polyposis and CFTR Mutations
Locus-Specific Databases in Cancer: What Future in a Post-Genomic Era? The TP53 LSDB paradigm
TP53 Mutants in the Tower of Babel of Cancer Progression
Recently Published Issues
"IN THIS ISSUE" Featured Articles
Free access “In This Issue” essays spotlight notable articles in Human Mutation issues.
The Fragile X Mouse is Cured, Now for the Patients
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
New Video Highlight
New video highlight created by Arnaud V. Vanlander, Rudy Van Coster, and Joél Smet on their recently published Human Mutation paper entitled, "Two Siblings with Homozygous Pathogenic Splice Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (NARS2)."
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
2015 Golden Helix Symposium
Next generation Pharmacogenomics
TM Convention Centre
Kuala Lumpur, MALAYSIA
March 11-13, 2015