Human Mutation

Cover image for Vol. 38 Issue 3

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. Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations

    Carmen Diez-Fernandez, Véronique Rüfenacht and Johannes Häberle

    Version of Record online: 15 FEB 2017 | DOI: 10.1002/humu.23184

  2. You have full text access to this OnlineOpen article
    Understanding the Genomic Structure of Copy-Number Variation of the Low-Affinity Fcγ Receptor Region Allows Confirmation of the Association of FCGR3B Deletion with Rheumatoid Arthritis

    Raheleh Rahbari, Luciana W Zuccherato, German Tischler, Belinda Chihota, Hasret Ozturk, Sara Saleem, Eduardo Tarazona-Santos, Lee R Machado and Edward J Hollox

    Version of Record online: 15 FEB 2017 | DOI: 10.1002/humu.23159

  3. An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX

    Tessa Mattiske, Ching Moey, Lisenka E. Vissers, Natalie Thorne, Peter Georgeson, Madhura Bakshi and Cheryl Shoubridge

    Version of Record online: 15 FEB 2017 | DOI: 10.1002/humu.23190

  4. Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey–Hailey Disease

    Ruud G.L. Nellen, Peter M. Steijlen, Maurice A.M. van Steensel, Maaike Vreeburg, European Professional Contributors, Jorge Frank and Michel van Geel

    Version of Record online: 15 FEB 2017 | DOI: 10.1002/humu.23164

  5. 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

    Version of Record online: 15 FEB 2017 | DOI: 10.1002/humu.23153

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