Human Mutation

Cover image for Vol. 37 Issue 10

Edited By: Richard G.H. Cotton (1940-2015) and Garry R. Cutting

Impact Factor: 5.089

ISI Journal Citation Reports © Ranking: 2015: 23/165 (Genetics & Heredity)

Online ISSN: 1098-1004

Just Published Articles

  1. Mutation in SSUH2 Causes Autosomal Dominant Dentin Dysplasia Type I

    Fu Xiong, Zhisong Ji, Yanhui Liu, Yu Zhang, Lingling Hu, Qi Yang, Qinwei Qiu, Lingfeng Zhao, Dong Chen, Zhihui Tian, Xuan Shang, Leitao Zhang, Xiaofeng Wei, Cuixian Liu, Qiuxia Yu, Meichao Zhang, Jing Cheng, Jun Xiong, Dongri Li, Xiuhua Wu, Huijun Yuan, Wenqing Zhang and Xiangmin Xu

    Accepted manuscript online: 29 SEP 2016 04:50AM EST | DOI: 10.1002/humu.23130

  2. BRCA Share: A Collection of Clinical BRCA Gene Variants

    Christophe Béroud, Stanley I. Letovsky, Corey D. Braastad, Sandrine M. Caputo, Olivia Beaudoux, Yves Jean Bignon, Brigitte Bressac-De Paillerets, Myriam Bronner, Crystal M. Buell, Gwenaëlle Collod-Béroud, Florence Coulet, Nicolas Derive, Christina Divincenzo, Christopher D. Elzinga, Céline Garrec, Claude Houdayer, Izabela Karbassi, Sarab Lizard, Angela Love, Danièle Muller, Narasimhan Nagan, Camille R. Nery, Ghadi Rai, Françoise Revillion, David Salgado, Nicolas Sévenet, Olga Sinilnikova, Hagay Sobol, Dominique Stoppa-Lyonnet, Christine Toulas, Edwin Trautman, Dominique Vaur, Paul Vilquin, Katelyn S. Weymouth, Alecia Willis, Laboratory Corporation of America Variant Classification Group, Quest Diagnostics Variant Classification Group, UNICANCER Genetic Group BRCA Laboratory Network, Marcia Eisenberg and Charles M Strom

    Version of Record online: 28 SEP 2016 | DOI: 10.1002/humu.23113

  3. mirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications

    Zhongshan Li, Zhenwei Liu, Yi Jiang, Denghui Chen, Xia Ran, Zhong Sheng Sun and Jinyu Wu

    Accepted manuscript online: 27 SEP 2016 10:41AM EST | DOI: 10.1002/humu.23125

  4. A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV)

    Samiha S Shaikh, Ya-Chun Chen, Sally-Anne Halsall, Michael S Nahorski, Kiyoyuki Omoto, Gareth T Young, Anne Phelan and Christopher Geoffrey Woods

    Accepted manuscript online: 27 SEP 2016 10:32AM EST | DOI: 10.1002/humu.23123

  5. Analysis of Heteroplasmic Variants in the Cardiac Mitochondrial Genome of Individuals with Down Syndrome

    Erik Hefti, Jonathan Bard and Javier G. Blanco

    Version of Record online: 26 SEP 2016 | DOI: 10.1002/humu.23071


New video highlight created by Lusine Nazaryan-Petersen on her recently published Human Mutation paper entitled, "Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination."

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