© 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
- Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects
Rajiv D. Machado, Laura Southgate, Christina A. Eichstaedt, Micheala A. Aldred, Eric D. Austin, D. Hunter Best, Wendy K. Chung, Nicola Benjamin, C. Gregory Elliott, Mélanie Eyries, Christine Fischer, Stefan Gräf, Katrin Hinderhofer, Marc Humbert, Steven B. Keiles, James E. Loyd, Nicholas W. Morrell, John H. Newman, Florent Soubrier, Richard C. Trembath, Rebecca Rodríguez Viales and Ekkehard Grünig
Article first published online: 12 OCT 2015 | DOI: 10.1002/humu.22904
- Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression
Xibo Zhang, Gang Qin, Guilan Chen, Tao Li, Linghan Gao, Li Huang, Ying Zhang, Ke Ouyang, Yuqi Wang, Yu Pang, Bo Zeng and Ling Yu
Article first published online: 9 OCT 2015 | DOI: 10.1002/humu.22907
- 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
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.
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.
Read this special issue FREE online.
Other Human Mutation Special Issues, FREE Online:
See also these free Focus Sections:
Focus on CNV Detection with Diagnostic Arrays - Volume 33, Issue 6
Focus on the NIH Undiagnosed Diseases Program - Volume 33, Issue 4