Human Mutation

Cover image for Vol. 36 Issue 12

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

  1. SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

    Stefania Zampieri, Mirella Filocamo, Annalisa Pianta, Susanna Lualdi, Laura Gort, Maria Jose Coll, Richard Sinnott, Tarekegn Geberhiwot, Bruno Bembi and Andrea Dardis

    Article first published online: 1 DEC 2015 | DOI: 10.1002/humu.22923

  2. The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes

    Miriam J. Smith, Jill E. Urquhart, Elaine F. Harkness, Emma K. Miles, Naomi L. Bowers, Helen J. Byers, Michael Bulman, Carolyn Gokhale, Andrew J Wallace, William G. Newman and D. Gareth Evans

    Accepted manuscript online: 30 NOV 2015 04:51AM EST | DOI: 10.1002/humu.22938

  3. MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child

    Susanne A. Gatz, Daniela Salles, Eva-Maria Jacobsen, Thilo Dörk, Tobias Rausch, Sevtap Aydin, Harald Surowy, Meta Volcic, Walther Vogel, Klaus-Michael Debatin, Adrian M. Stütz, Klaus Schwarz, Ulrich Pannicke, Timo Hess, Jan O. Korbel, Ansgar S. Schulz, Johannes Schumacher and Lisa Wiesmüller

    Accepted manuscript online: 30 NOV 2015 04:47AM EST | DOI: 10.1002/humu.22939

  4. 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

  5. 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


Richard G.H. Cotton (1940-2015)

In Memoriam: Richard G.H. Cotton (1940-2015)

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.