Human Mutation

Cover image for Vol. 37 Issue 12

Edited By: Garry R. Cutting

Impact Factor: 5.089

ISI Journal Citation Reports © Ranking: 2015: 23/166 (Genetics & Heredity)

Online ISSN: 1098-1004

Just Published Articles

  1. SLC4A11 Three-Dimensional Homology Model Rationalizes Corneal Dystrophy-causing Mutations

    Katherine E. Badior, Kumari Alka and Joseph R. Casey

    Accepted manuscript online: 7 DEC 2016 10:40AM EST | DOI: 10.1002/humu.23152

  2. Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects via Disrupting Apical Tight Junction Formation

    Xiaoli Chen, Yu An, Yonghui Gao, Liu Guo, Lei Rui, Hua Xie, Mei Sun, Siv Lam Hung, Xiaoming Sheng, Jizhen Zou, Yihua Bao, Hongyan Guan, Bo Niu, Zandong Li, Richard H. Finnell, James F. Gusella, Bai-Lin Wu and Ting Zhang

    Accepted manuscript online: 7 DEC 2016 10:40AM EST | DOI: 10.1002/humu.23153

  3. How to Define Pathogenicity, Health, and Disease?

    Mauno Vihinen

    Version of Record online: 6 DEC 2016 | DOI: 10.1002/humu.23144

  4. Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

    Daniel Nilsson, Maria Pettersson, Peter Gustavsson, Alisa Förster, Wolfgang Hofmeister, Josephine Wincent, Vasilios Zachariadis, Britt-Marie Anderlid, Ann Nordgren, Outi Mäkitie, Valtteri Wirta, Max Käller, Francesco Vezzi, James R Lupski, Magnus Nordenskjöld, Elisabeth Syk Lundberg, Claudia M. B. Carvalho and Anna Lindstrand

    Version of Record online: 5 DEC 2016 | DOI: 10.1002/humu.23146

  5. A Cell Type-Specific Expression Signature Predicts Haploinsufficient Autism-Susceptibility Genes

    Chaolin Zhang and Yufeng Shen

    Version of Record online: 5 DEC 2016 | DOI: 10.1002/humu.23147

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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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