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. You have full text access to this OnlineOpen article
    Predicting phenotype from genotype: Improving accuracy through more robust experimental and computational modeling

    Jonathan Gallion, Amanda Koire, Panagiotis Katsonis, Anne-Marie Schoenegge, Michel Bouvier and Olivier Lichtarge

    Version of Record online: 28 FEB 2017 | DOI: 10.1002/humu.23193

  2. You have full text access to this OnlineOpen article
    Annotation of functional impact of voltage-gated sodium channel mutations

    Valérie Hinard, Aurore Britan, Mathieu Schaeffer, Monique Zahn-Zabal, Urs Thomet, Jean-Sébastien Rougier, Amos Bairoch, Hugues Abriel and Pascale Gaudet

    Version of Record online: 28 FEB 2017 | DOI: 10.1002/humu.23191

  3. Nonketotic Hyperglycinemia: functional assessment of missense variants in GLDC to understand phenotypes of the disease

    Irene Bravo-Alonso, Rosa Navarrete, Laura Arribas-Carreira, Almudena Perona, David Abia, María Luz Couce, Angels García-Cazorla, Ana Morais, Rosario Domingo, María Antonia Ramos, Michael A. Swanson, Johan L.K. Van Hove, Magdalena Ugarte, Belén Pérez, Celia Pérez-Cerdá and Pilar Rodríguez-Pombo

    Accepted manuscript online: 28 FEB 2017 03:50AM EST | DOI: 10.1002/humu.23208

  4. Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies

    Chi-Fan Yang, Chung-Hsing Wang, Weng Siong H'ng, Chun-Ping Chang, Wei-De Lin, Yuan-Tsong Chen, Jer-Yuarn Wu and Fuu-Jen Tsai

    Version of Record online: 27 FEB 2017 | DOI: 10.1002/humu.23186

  5. Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations

    Andoni Echaniz-Laguna, Thomas Geuens, Philippe Petiot, Yann Péréon, Elias Adriaenssens, Mansour Haidar, Simona Capponi, Thierry Maisonobe, Emmanuel Fournier, Odile Dubourg, Bertrand Degos, François Salachas, Timothée Lenglet, Bruno Eymard, Emilien Delmont, Jean Pouget, Raul Juntas Morales, Cyril Goizet, Philippe Latour, Vincent Timmerman and Tanya Stojkovic

    Version of Record online: 25 FEB 2017 | DOI: 10.1002/humu.23189

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