Human Mutation

Cover image for Vol. 36 Issue 8

Edited By: Richard G.H. Cotton and Garry R. Cutting

Impact Factor: 5.144

ISI Journal Citation Reports © Ranking: 2014: 26/167 (Genetics & Heredity)

Online ISSN: 1098-1004

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Virtual Issue

Please see the Virtual Issue, "Recommendations and Standards for the Reporting and Databasing of Genetic Variations", guest edited by Johan den Dunnen and Mauno Vihinen. Articles in this Virtual Issue have been made freely available online.

See also this valuable Virtual Issue on assessing pathogenicity of gene variants – also free online

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.

New Video Highlight

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New video highlight created by Yuehua Zhang, Liping Wei, and colleagues on their recently published Human Mutation paper entitled, "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “de novoSCN1A Mutations in Children with Dravet Syndrome."

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