© Wiley Periodicals, Inc.
Edited By: Richard G.H. Cotton and Garry R. Cutting
Impact Factor: 5.34
ISI Journal Citation Reports © Ranking: 2014: 26/167 (Genetics & Heredity)
Online ISSN: 1098-1004
Just Published Articles
- You have full text access to this OnlineOpen articleSimultaneous Whole Mitochondrial Genome Sequencing with Short Overlapping Amplicons Suitable for Degraded DNA Using the Ion Torrent Personal Genome Machine
Lakshmi Chaitanya, Arwin Ralf, Mannis van Oven, Tomasz Kupiec, Joseph Chang, Robert Lagacé and Manfred Kayser
Article first published online: 8 OCT 2015 | DOI: 10.1002/humu.22905
- You have full text access to this OnlineOpen articleNetwork-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease
Nick Dand, Reiner Schulz, Michael E. Weale, Laura Southgate, Rebecca J. Oakey, Michael A. Simpson and Thomas Schlitt
Article first published online: 7 OCT 2015 | DOI: 10.1002/humu.22906
- wKinMut-2: Identification and Interpretation of Pathogenic Variants in Human Protein Kinases
Miguel Vazquez, Tirso Pons, Søren Brunak, Alfonso Valencia and Jose M.G. Izarzugaza
Accepted manuscript online: 7 OCT 2015 06:46AM EST | DOI: 10.1002/humu.22914
- Efficient Generation of Gene-Modified Pigs Harboring Precise Orthologous Human Mutation via CRISPR/Cas9-Induced Homology-Directed Repair in Zygotes
Xiaoyang Zhou, Lulu Wang, Yinan Du, Fei Xie, Liang Li, Yu Liu, Chuanhong Liu, Shiqiang Wang, Shibing Zhang, Xingxu Huang, Yong Wang and Hong Wei
Accepted manuscript online: 7 OCT 2015 06:46AM EST | DOI: 10.1002/humu.22913
- Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies
Mouna Barat-Houari, Guillaume Sarrabay, Vincent Gatinois, Aurélie Fabre, Bruno Dumont, David Genevieve and Isabelle Touitou
Accepted manuscript online: 7 OCT 2015 06:45AM EST | DOI: 10.1002/humu.22915
New video highlight created by Brianne Kirkpatrick and colleagues on their recently published Human Mutation paper entitled, "GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge."
"IN THIS ISSUE" Featured Articles
Free access “In This Issue” essays spotlight notable articles in Human Mutation issues.
Beckwith–Wiedemann Syndrome Revisited
Skipping Skin Disease
Richard G.H. Cotton (1940-2015)
Richard G.H. "Dick" Cotton, Founding Co-Editor of Human Mutation, recently passed away -- a tragic loss for our journal and the research community. Please see the article in the August 2015 issue entitled, "In Memoriam: Richard G.H. Cotton (1940–2015)". in which Founding Co-Editor Haig H. Kazazian Jr., Co-Editor Garry R. Cutting, and Managing Editor Mark H. Paalman each share some of their fond memories of Dr. Cotton.
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Focus on CNV Detection with Diagnostic Arrays - Volume 33, Issue 6
Focus on the NIH Undiagnosed Diseases Program - Volume 33, Issue 4