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. 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

  2. Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the aetiology of autosomal recessive intellectual disability

    Luciana Musante, Lucia Püttmann, Kimia Kahrizi, Masoud Garshasbi, Hao Hu, Henning Stehr, Bettina Lipkowitz, Sabine Otto, Lars R. Jensen, Andreas Tzschach, Payman Jamali, Thomas Wienker, Hossein Najmabadi, Hans Hilger Ropers and Andreas W. Kuss

    Accepted manuscript online: 25 FEB 2017 01:50AM EST | DOI: 10.1002/humu.23205

  3. TarSeqQC: Quality Control on Targeted Sequencing Experiments in R

    Gabriela A. Merino, Yanina A. Murua, Cristóbal Fresno, Juan M. Sendoya, Mariano Golubicki, Soledad Iseas, Mariana Coraglio, Osvaldo L Podhajcer, Andrea S Llera and Elmer A. Fernández

    Accepted manuscript online: 24 FEB 2017 10:20PM EST | DOI: 10.1002/humu.23204

  4. EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state

    Sarah Issa, Nadege Bondurand, Emmanuelle Faubert, Sylvain Poisson, Laure Lecerf, Patrick Nitschke, Naima Deggouj, Natalie Loundon, Laurence Jonard, Albert David, Yves Sznajer, Patricia Blanchet, Sandrine Marlin and Veronique Pingault

    Accepted manuscript online: 24 FEB 2017 09:50PM EST | DOI: 10.1002/humu.23206

  5. 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

    Accepted manuscript online: 23 FEB 2017 11:10AM EST | DOI: 10.1002/humu.23193

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