Human Mutation

Cover image for Vol. 38 Issue 10

Edited By: Garry R. Cutting

Impact Factor: 4.601

ISI Journal Citation Reports © Ranking: 2016: 29/166 (Genetics & Heredity)

Online ISSN: 1098-1004

Just Published Articles

  1. Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history

    Kelvin César de Andrade, Lisa Mirabello, Douglas R. Stewart, Eric Karlins, Roelof Koster, Mingyi Wang, Susan M. Gapstur, Mia M. Gaudet, Neal D. Freedman, Maria Teresa Landi, Nathanaël Lemonnier, Pierre Hainaut, Sharon A. Savage and Maria Isabel Achatz

    Version of Record online: 21 SEP 2017 | DOI: 10.1002/humu.23320

  2. HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing

    Atsuko Imai-Okazaki, Masakazu Kohda, Kaori Kobayashi, Tomoko Hirata, Yasushi Sakata, Kei Murayama, Akira Ohtake, Yasushi Okazaki, Akihiro Nakaya and Jurg Ott

    Version of Record online: 21 SEP 2017 | DOI: 10.1002/humu.23298

  3. Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects

    Somadri Ghosh, Céline Huber, Quentin Siour, Sérgio B. Sousa, Michael Wright, Valérie Cormier-Daire and Christophe Erneux

    Version of Record online: 21 SEP 2017 | DOI: 10.1002/humu.23321

  4. A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity

    Ryan H. Purcell, Camilo Toro, William A. Gahl and Randy A. Hall

    Version of Record online: 20 SEP 2017 | DOI: 10.1002/humu.23336

  5. Functional and molecular studies in primary carnitine deficiency

    Marta Frigeni, Bijina Balakrishnan, Xue Yin, Fernanda R.O. Calderon, Rong Mao, Marzia Pasquali and Nicola Longo

    Version of Record online: 14 SEP 2017 | DOI: 10.1002/humu.23315


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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