Human Mutation

Cover image for Vol. 39 Issue 2

Edited By: Garry R. Cutting

Impact Factor: 4.601

ISI Journal Citation Reports © Ranking: 2016: 30/167 (Genetics & Heredity)

Online ISSN: 1098-1004

Just Published Articles

  1. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant

    Sarah A. Sandaradura, Adam Bournazos, Amali Mallawaarachchi, Beryl B. Cummings, Leigh B. Waddell, Kristi J. Jones, Christopher Troedson, Annapurna Sudarsanam, Benjamin M. Nash, Gregory B. Peters, Elizabeth M. Algar, Daniel G. MacArthur, Kathryn N. North, Susan Brammah, Amanda Charlton, Nigel G. Laing, Meredith J. Wilson, Mark R. Davis and Sandra T. Cooper

    Version of Record online: 13 JAN 2018 | DOI: 10.1002/humu.23385

  2. MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

    Ayman W. El-Hattab, Julia Wang, Hongzheng Dai, Mohammed Almannai, Christian Staufner, Majid Alfadhel, Michael J. Gambello, Pankaj Prasun, Saleem Raza, Hernando J. Lyons, Manal Afqi, Mohammed A. M. Saleh, Eissa A. Faqeih, Hamad I. Alzaidan, Abduljabbar Alshenqiti, Leigh Anne Flore, Jozef Hertecant, Stephanie Sacharow, Deborah S. Barbouth, Kei Murayama, Amit A. Shah, Henry C. Lin and Lee-Jun C. Wong

    Version of Record online: 13 JAN 2018 | DOI: 10.1002/humu.23387

  3. Genotype-phenotype correlations in individuals with pathogenic RERE variants

    Valerie K. Jordan, Brieana Fregeau, Xiaoyan Ge, Jessica Giordano, Ronald J. Wapner, Tugce B. Balci, Melissa T. Carter, John A. Bernat, Amanda N. Moccia, Anshika Srivastava, Donna M. Martin, Stephanie L. Bielas, John Pappas, Melissa D. Svoboda, Marlène Rio, Nathalie Boddaert, Vincent Cantagrel, Andrea M. Lewis, Fernando Scaglia, Undiagnosed Diseases Network, Jennefer N. Kohler, Jonathan A. Bernstein, Annika M. Dries, Jill A. Rosenfeld, Colette DeFilippo, Willa Thorson, Yaping Yang, Elliott H. Sherr, Weimin Bi and Daryl A. Scott

    Accepted manuscript online: 13 JAN 2018 04:20AM EST | DOI: 10.1002/humu.23400

  4. Mitogenomic differences between the normal and tumour cells of colorectal cancer patients

    Katarzyna Skonieczna, Boris Malyarchuk, Arkadiusz Jawień, Andrzej Marszałek, Zbigniew Banaszkiewicz, Paweł Jarmocik and Tomasz Grzybowski

    Accepted manuscript online: 12 JAN 2018 11:50PM EST | DOI: 10.1002/humu.23402

  5. Molecular phenotype of SLC4A11 missense mutants: Setting the stage for personalized medicine in corneal dystrophies

    Kumari Alka and Joseph R. Casey

    Accepted manuscript online: 11 JAN 2018 10:50PM EST | DOI: 10.1002/humu.23401

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Video highlight created by Research Square on the newly published paper in Human Mutation paper entitled, "Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications."

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