© Wiley Periodicals, Inc.
Edited By: Richard G.H. Cotton and Garry R. Cutting
Impact Factor: 5.34
ISI Journal Citation Reports © Ranking: 2014: 25/167 (Genetics & Heredity)
Online ISSN: 1098-1004
Just Published Articles
- Long-Read Single-Molecule Real-Time (SMRT) Full Gene Sequencing of Cytochrome P450-2D6 (CYP2D6)
Wanqiong Qiao, Yao Yang, Robert Sebra, Geetu Mendiratta, Andrea Gaedigk, Robert J. Desnick and Stuart A. Scott
Accepted manuscript online: 25 NOV 2015 03:47AM EST | DOI: 10.1002/humu.22936
- HMOX2 Functions as a Modifier Gene for High-Altitude Adaptation in Tibetans
Deying Yang, Yi Peng, Ouzhuluobu *, Bianbazhuoma *, Chaoying Cui, Bianba *, Liangbang Wang, Kun Xiang, Yaoxi He, Hui Zhang, Xiaoming Zhang, Jiewei Liu, Hong Shi, Yongyue Pan, Duojizhuoma *, Dejiquzong *, Cirenyangji *, Baimakangzhuo *, Gonggalanzi *, Shimin Liu, Gengdeng *, Tianyi Wu, Hua Chen, Xuebin Qi and Bing Su
Accepted manuscript online: 24 NOV 2015 04:50AM EST | DOI: 10.1002/humu.22935
- TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome
Natalia A. Shylo, Kasey J. Christopher, Alejandro Iglesias, Aaron Daluiski and Scott D. Weatherbee
Article first published online: 23 NOV 2015 | DOI: 10.1002/humu.22925
- Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations
Alessandro Liquori, Christel Vaché, David Baux, Catherine Blanchet, Christian Hamel, Sue Malcolm, Michel Koenig, Mireille Claustres and Anne-Françoise Roux
Article first published online: 23 NOV 2015 | DOI: 10.1002/humu.22926
- PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly
Maha S. Zaki, Raoul Heller, Michaela Thoenes, Gudrun Nürnberg, Gabi Stern-Schneider, Peter Nürnberg, Srikanth Karnati, Daniel Swan, Ekram Fateen, Kerstin Nagel-Wolfrum, Mostafa I. Mostafa, Holger Thiele, Uwe Wolfrum, Eveline Baumgart-Vogt and Hanno J. Bolz
Accepted manuscript online: 23 NOV 2015 04:40AM EST | DOI: 10.1002/humu.22934
New video highlight created by Cindy Lee on her recently published Human Mutation paper entitled, "Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks."
"IN THIS ISSUE" Featured Articles
Free access “In This Issue” essays spotlight notable articles in Human Mutation issues.
Serial Hunt for Ciliary Genes in Complex Syndromes
Beckwith–Wiedemann Syndrome Revisited
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