Human Mutation

Cover image for Vol. 37 Issue 3

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. Mutation Update and Review of Severe MTHFR Deficiency

    D. Sean Froese, Martina Huemer, Terttu Suormala, Patricie Burda, David Coelho, Jean-Louis Guéant, Markus A. Landolt, Viktor Kožich, Brian Fowler and Matthias R. Baumgartner

    Accepted manuscript online: 13 FEB 2016 03:45AM EST | DOI: 10.1002/humu.22970

  2. Microdeletions, Rearrangements, and Cancer Susceptibility (page 229)

    Shirley Victoria Hodgson

    Article first published online: 11 FEB 2016 | DOI: 10.1002/humu.22864

  3. CoNVaDING: Single Exon Variation Detection in Targeted NGS Data

    Lennart F. Johansson, Freerk van Dijk, Eddy N. de Boer, Krista K. van Dijk-Bos, Jan D.H. Jongbloed, Annemieke H. van der Hout, Helga Westers, Richard J. Sinke, Morris A. Swertz, Rolf H. Sijmons and Birgit Sikkema-Raddatz

    Accepted manuscript online: 10 FEB 2016 04:39AM EST | DOI: 10.1002/humu.22969

  4. 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

  5. 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


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.