Copyright © 2014 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
Activating Mutations Cluster in the “Molecular Brake” Regions of Protein Kinases and Do Not Associate with Conserved or Catalytic Residues
Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains
Early Frameshift Mutation in PIGA Identified in a Large XLID Family Without Neonatal Lethality
Contribution of SUN1 Mutations to the Pathomechanism in Muscular Dystrophies
Mucolipidosis II-Related Mutations Inhibit the Exit from the Endoplasmic Reticulum and Proteolytic Cleavage of GlcNAc-1-Phosphotransferase Precursor Protein (GNPTAB)
Recently Published Issues
"IN THIS ISSUE" Featured Articles
Free access “In This Issue” essays spotlight notable articles in Human Mutation issues.
The Challenge of Genomic Medicine
Essential Human Mutation Special Issues, FREE Online:
Also see these recent focus sections:
Focus on CNV Detection with Diagnostic Arrays - Volume 33, Issue 6
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New Video Highlight
New video highlight created by Maria Chiara Scaini on her recently published Human Mutation paper entitled, "CDKN2A Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment."
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