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. Exploring the limits of the usefulness of mutagenesis in studies of allosteric mechanisms

    Qingling Tang, Aileen Y. Alontaga, Todd Holyoak and Aron W. Fenton

    Accepted manuscript online: 29 APR 2017 01:02PM EST | DOI: 10.1002/humu.23239

  2. panelcn.MOPS: Copy number detection in targeted NGS panel data for clinical diagnostics

    Gundula Povysil, Antigoni Tzika, Julia Vogt, Verena Haunschmid, Ludwine Messiaen, Johannes Zschocke, Günter Klambauer, Sepp Hochreiter and Katharina Wimmer

    Accepted manuscript online: 27 APR 2017 11:22AM EST | DOI: 10.1002/humu.23237

  3. Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases

    Gerard C. P. Schaafsma and Mauno Vihinen

    Accepted manuscript online: 25 APR 2017 11:20PM EST | DOI: 10.1002/humu.23236

  4. Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI

    Marco Carraro, Giovanni Minervini, Manuel Giollo, Yana Bromberg, Emidio Capriotti, Rita Casadio, Roland Dunbrack, Lisa Elefanti, Pietro Fariselli, Carlo Ferrari, Julian Gough, Panagiotis Katsonis, Emanuela Leonardi, Olivier Lichtarge, Chiara Menin, Pier Luigi Martelli, Abhishek Niroula, Lipika R. Pal, Susanna Repo, Maria Chiara Scaini, Mauno Vihinen, Qiong Wei, Qifang Xu, Yuedong Yang, Yizhou Yin, Jan Zaucha, Huiying Zhao, Yaoqi Zhou, Steven E. Brenner, John Moult and Silvio C.E. Tosatto

    Accepted manuscript online: 25 APR 2017 08:21AM EST | DOI: 10.1002/humu.23235

  5. 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

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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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