Human Mutation

Cover image for Vol. 36 Issue 11

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. 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

  2. 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

  3. You have full text access to this OnlineOpen article
    Simultaneous 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

  4. You have full text access to this OnlineOpen article
    Network-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

  5. 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


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.