Human Mutation

Cover image for Vol. 37 Issue 2

Edited By: Richard G.H. Cotton (1940-2015) 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. Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition Genes

    Setareh Moghadasi, Diana M. Eccles, Peter Devilee, Maaike P.G. Vreeswijk and Christi J. van Asperen

    Article first published online: 5 FEB 2016 | DOI: 10.1002/humu.22956

  2. Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain

    Laurent Jullien, Caroline Kannengiesser, Laetitia Kermasson, Valérie Cormier-Daire, Thierry Leblanc, Jean Soulier, Arturo Londono-Vallejo, Jean-Pierre de Villartay, Isabelle Callebaut and Patrick Revy

    Accepted manuscript online: 5 FEB 2016 05:07AM EST | DOI: 10.1002/humu.22966

  3. De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

    Bertrand Isidor, Sébastien Küry, Jill A. Rosenfeld, Thomas Besnard, Sébastien Schmitt, Shelagh Joss, Sally J Davies, Robert Roger Lebel, Alex Henderson, Christian P. Schaaf, Haley E. Streff, Yaping Yang, Vani Jain, Nodoka Chida, Xenia Latypova, Cédric Le Caignec, Benjamin Cogné, Sandra Mercier, Marie Vincent, Estelle Colin, Dominique Bonneau, Anne-Sophie Denommé, Philippe Parent, Brigitte Gilbert-Dussardier, Sylvie Odent, Annick Toutain, Amélie Piton, Christian Dina, Audrey Donnart, Pierre Lindenbaum, Eric Charpentier, Richard Redon, Kenji Iemura, Masanori Ikeda, Kozo Tanaka and Stéphane Bézieau

    Article first published online: 4 FEB 2016 | DOI: 10.1002/humu.22952

  4. Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis

    Israel Amirav, Julia Wallmeier, Niki T. Loges, Tabea Menchen, Petra Pennekamp, Huda Mussaffi, Revital Abitbul, Avraham Avital, Lea Bentur, Gerard W. Dougherty, Elias Nael, Moran Lavie, Heike Olbrich, Claudius Werner, Chris Kintner, Heymut Omran and for the Israeli PCD Consortium Investigators

    Article first published online: 4 FEB 2016 | DOI: 10.1002/humu.22957

  5. Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination

    Lusine Nazaryan-Petersen, Birgitte Bertelsen, Mads Bak, Lars Jønson, Niels Tommerup, Dustin C Hancks and Zeynep Tümer

    Article first published online: 4 FEB 2016 | DOI: 10.1002/humu.22953


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."

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.