Human Mutation

Cover image for Vol. 37 Issue 11

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. Pharmacological Chaperoning: A Potential Treatment For PMM2-CDG

    Patricia Yuste-Checa, Sandra Brasil, Alejandra Gámez, Jarl Underhaug, Lourdes R Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Aurora Martinez and Belén Pérez

    Accepted manuscript online: 24 OCT 2016 02:56AM EST | DOI: 10.1002/humu.23138

  2. You have full text access to this OnlineOpen article
    Novel BRCA1 and BRCA2 Tumour Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas

    Robbert D.A. Weren, Arjen R. Mensenkamp, Michiel Simons, Astrid Eijkelenboom, Aisha S. Sie, Hicham Ouchene, Monique van Asseldonk, Encarna B. Gomez-Garcia, Marinus J. Blok, Joanne A. de Hullu, Marcel R. Nelen, Alexander Hoischen, Johan Bulten, Bastiaan B.J. Tops, Nicoline Hoogerbrugge and en Marjolijn J.L. Ligtenberg

    Accepted manuscript online: 21 OCT 2016 04:50AM EST | DOI: 10.1002/humu.23137

  3. The Human Serotonin Type 3 Receptor Gene (HTR3A-E) Allelic Variant Database

    Jacopo Celli, Gudrun Rappold and Beate Niesler

    Accepted manuscript online: 20 OCT 2016 08:25AM EST | DOI: 10.1002/humu.23136

  4. 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

    Version of Record online: 19 OCT 2016 | DOI: 10.1002/humu.23130

  5. The CHRNA5/CHRNA3/CHRNB4 Nicotinic Receptor Regulome: Genomic Architecture, Regulatory Variants, and Clinical Associations

    Elizabeth S. Barrie, Katherine Hartmann, Sung-Ha Lee, John T. Frater, Michal Seweryn, Danxin Wang and Wolfgang Sadee

    Accepted manuscript online: 19 OCT 2016 03:50AM EST | DOI: 10.1002/humu.23135


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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