Human Mutation

Cover image for Vol. 39 Issue 3

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. Variantpathogenicity evaluationin the community-driven Inherited Neuropathy Variant Browser

    Cima Saghira, Dana M. Bis, David Stanek, Alleene Strickland, David N. Herrmann, Mary M Reilly, Steven S. Scherer, Michael E Shy, Inherited Neuropathy Consortium and Stephan Züchner

    Accepted manuscript online: 22 FEB 2018 11:21PM EST | DOI: 10.1002/humu.23412

  2. Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly

    Zuzana Slamova, Lusine Nazaryan-Petersen, Mana M. Mehrjouy, Jana Drabova, Miroslava Hancarova, Tatana Marikova, Drahuse Novotna, Marketa Vlckova, Zdenka Vlckova, Mads Bak, Zuzana Zemanova, Niels Tommerup and Zdenek Sedlacek

    Version of Record online: 20 FEB 2018 | DOI: 10.1002/humu.23408

  3. Text-mined phenotype annotation and vector-based similarity to improve identification of similar phenotypes and causative genes in monogenic disease patients

    Jake R. Saklatvala, Nick Dand and Michael A. Simpson

    Accepted manuscript online: 20 FEB 2018 06:26AM EST | DOI: 10.1002/humu.23413

  4. The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

    Mara Colombo, Irene Lòpez-Perolio, Huong D. Meeks, Laura Caleca, Michael Parsons, Hongyan Li, Giovanna De Vecchi, Emma Tudini, Claudia Foglia, Patrizia Mondini, Siranoush Manoukian, Raquel Behar, Encarna B. Gomez Garcia, Alfons Meindl, Marco Montagna, Dieter Niederacher, Ane Y. Schmidt, Liliana Varesco, Barbara Wappenschmidt, Manjeet K. Bolla, Joe Dennis, Kyriaki Michailidou, Qin Wang, Kristiina Aittomäki, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Matthias W. Beckmann, Alicia Beeghly-Fadel, Javier Benitez, Bram Boeckx, Natalia V. Bogdanova, Stig E. Bojesen, Bernardo Bonanni, Hiltrud Brauch, Hermann Brenner, Barbara Burwinkel, Jenny Chang-Claude, Don M. Conroy, Fergus J. Couch, Angela Cox, Simon S. Cross, Kamila Czene, Peter Devilee, Thilo Dörk, Mikael Eriksson, Peter A Fasching, Jonine Figueroa, Olivia Fletcher, Henrik Flyger, Marike Gabrielson, Montserrat García-Closas, Graham G. Giles, Anna González-Neira, Pascal Guénel, Christopher A. Haiman, Per Hall, Ute Hamann, Mikael Hartman, Jan Hauke, Antoinette Hollestelle, John L. Hopper, Anna Jakubowska, Audrey Jung, Veli-Matti Kosma, Diether Lambrechts, Loic Le Marchand, Annika Lindblom, Jan Lubinski, Arto Mannermaa, Sara Margolin, Hui Miao, Roger L. Milne, Susan L. Neuhausen, Heli Nevanlinna, Janet E. Olson, Paolo Peterlongo, Julian Peto, Katri Pylkäs, Elinor J. Sawyer, Marjanka K. Schmidt, Rita K. Schmutzler, Andreas Schneeweiss, Minouk J. Schoemaker, Mee Hoong See, Melissa C. Southey, Anthony Swerdlow, Soo H. Teo, Amanda E. Toland, Ian Tomlinson, Thérèse Truong, Christi J. van Asperen, Ans M.W. van den Ouweland, Lizet van der Kolk, Robert Winqvist, Drakoulis Yannoukakos, Wei Zheng, kConFab/AOCS Investigators, Alison M. Dunning, Douglas F. Easton, Alex Henderson, Frans Hogervorst, Louise Izatt, Kenneth Offitt, Lucy E. Side, Elizabeth J. van Rensburg, Study EMBRACE, Study HEBON, Lesley McGuffog, Antonis C. Antoniou, Georgia Chenevix-Trench, Amanda B. Spurdle, David E. Goldgar, Miguel de la Hoya and Paolo Radice

    Accepted manuscript online: 20 FEB 2018 06:26AM EST | DOI: 10.1002/humu.23411

  5. Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B

    Mattia Ferrarese, Maria Francesca Testa, Dario Balestra, Francesco Bernardi, Mirko Pinotti and Alessio Branchini

    Version of Record online: 17 FEB 2018 | DOI: 10.1002/humu.23404

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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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