Human Mutation
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
Current Issue:June 2013
Volume 34, Issue 6
Volume 34, Issue 5
Volume 34, Issue 4
Volume 34, Issue 3
Volume 34, Issue 2
2012 Special Issues
Essential Human Mutation Special Issues, FREE Online:
Databases in Neurogenetics - Volume 33, Issue 9 (September 2012)
Deep Phenotyping for Precision Medicine - Volume 33, Issue 5 (May 2012)
Also see these recent focus sections:
Focus on CNV Detection with Diagnostic Arrays - Volume 33, Issue 6 (June 2012)
Focus on the NIH Undiagnosed Diseases Program - Volume 33, Issue 4 (April 2012)
"IN THIS ISSUE" Featured Articles
Free access “In This Issue” essays spotlight notable articles in Human Mutation issues.
June 2013
New Tools of the Trade for Large-scale Collaborative Genome Analysis
Human “Monogenic” Disease Gene Discovery: When Models of Inheritance Go Wrong
May 2013
Novel strategies for classifying splice-site variants of unknown clinical significance in CFTR
April 2013
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
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HGVS Meeting 2013
Clinical Applications of Next Generation Sequencing
8th June 2013
Hotel Concorde La Fayette, Paris, France
Upcoming Meeting
5th Pan Arab Human Genetics Conference
in Collaboration with the 2013 Golden Helix Symposium
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

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