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. DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease

    Young Bin Hong, Junghee Kang, Ji Hyun Kim, Jinho Lee, Geon Kwak, Young Se Hyun, Soo Hyun Nam, Hyun Dae Hong, Yu-Ri Choi, Sung-Chul Jung, Heasoo Koo, Ji Eun Lee, Byung-Ok Choi and Ki Wha Chung

    Article first published online: 9 FEB 2016 | DOI: 10.1002/humu.22959

  2. Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF

    Isabel Filges, Elisabeth Bruder, Kristin Brandal, Stephanie Meier, Dag Erik Undlien, Trine Rygvold Waage, Irene Hoesli, Max Schubach, Tjaart de Beer, Ying Sheng, Sylvia Hoeller, Sven Schulzke, Oddveig Røsby, Peter Miny, Sevgi Tercanli, Truls Oppedal, Peter Meyer, Kaja Kristine Selmer and Petter Strømme

    Article first published online: 9 FEB 2016 | DOI: 10.1002/humu.22960

  3. Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease

    Thomas Smith, Gladys Ho, John Christodoulou, Elizabeth Ann Price, Zerrin Onadim, Marion Gauthier-Villars, Catherine Dehainault, Claude Houdayer, Beatrice Parfait, Rick van Minkelen, Dietmar Lohman and Adam Eyre-Walker

    Accepted manuscript online: 9 FEB 2016 03:55AM EST | DOI: 10.1002/humu.22967

  4. 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

  5. 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


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.