Human Mutation

Cover image for Vol. 38 Issue 5

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. Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram and Thiamine-responsive megaloblastic anaemia

    Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams, Carol Hardy, Gabriella Milan, Francesca Favaretto, Patrick Yu-Wai-Man, Julia Rohayem, Miguel López de Heredia, Tamara Hershey, Lisbeth Tranebjaerg, Jian-Hua Chen, Annabel Chaussenot, Virginia Nunes, Bess Marshall, Susan McAfferty, Vallo Tillmann, Pietro Maffei, Veronique Paquis-Flucklinger, Tarekign Geberhiwot, Wojciech Mlynarski, Kay Parkinson, Virginie Picard, Gema Esteban Bueno, Renuka Dias, Amy Arnold, Caitlin Richens, Richard Paisey, Fumi Urano, Robert Semple, Richard Sinnott and Timothy G. Barrett

    Accepted manuscript online: 21 APR 2017 09:51PM EST | DOI: 10.1002/humu.23233

  2. Varied pathological and therapeutic response effects associated with CHCHD2 mutant and risk variants

    Murni Tio, Rujing Wen, Yih Lin Lim, Zul Haikhel Bin Zukifli, Shaoping Xie, Patrick Ho, Zhidong Zhou, Tong-Wey Koh, Yi Zhao and Eng-King Tan

    Accepted manuscript online: 21 APR 2017 09:25PM EST | DOI: 10.1002/humu.23234

  3. Phenotype–genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties

    Junpei Tanigawa, Haruka Mimatsu, Seiji Mizuno, Nobuhiko Okamoto, Daisuke Fukushi, Koji Tominaga, Hiroyuki Kidokoro, Yukako Muramatsu, Eriko Nishi, Shota Nakamura, Daisuke Motooka, Noriko Nomura, Kiyoshi Hayasaka, Tetsuya Niihori, Yoko Aoki, Shin Nabatame, Masahiro Hayakawa, Jun Natsume, Keiichi Ozono, Taroh Kinoshita, Nobuaki Wakamatsu and Yoshiko Murakami

    Version of Record online: 20 APR 2017 | DOI: 10.1002/humu.23219

  4. Once doesn't count: Phenotype-driven gene hunting in cohorts (page 469)

    Peter N. Robinson

    Version of Record online: 19 APR 2017 | DOI: 10.1002/humu.23209

  5. Bad blood contaminating germline databases? (page 469)

    Jane E. Churpek

    Version of Record online: 19 APR 2017 | DOI: 10.1002/humu.23217

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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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