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. 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

  2. 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

  3. 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

  4. 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

  5. Identification and Characterisation of a Novel Constitutional PIK3CA Mutation in a Child lacking the Typical Segmental Overgrowth of “PIK3CA-Related Overgrowth Spectrum” (PROS)

    Nataliya Di Donato, Andreas Rump, Ghayda M. Mirzaa, Diana Alcantara, Antony Oliver, Evelin Schrock, William B. Dobyns and Mark O'Driscoll

    Accepted manuscript online: 23 NOV 2015 04:37AM EST | DOI: 10.1002/humu.22933


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.