Human Mutation

Cover image for Vol. 37 Issue 9

Edited By: Richard G.H. Cotton (1940-2015) and Garry R. Cutting

Impact Factor: 5.089

ISI Journal Citation Reports © Ranking: 2015: 23/165 (Genetics & Heredity)

Online ISSN: 1098-1004

Just Published Articles

  1. You have full text access to this OnlineOpen article
    Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1

    Simona Capponi, Thomas Geuens, Alessandro Geroldi, Paola Origone, Simonetta Verdiani, Elena Cichero, Elias Adriaenssens, Vicky De Winter, Monica Bandettini di Poggio, Marco Barberis, Adriano Chiò, Paola Fossa, Paola Mandich, Emilia Bellone and Vincent Timmerman

    Version of Record online: 30 AUG 2016 | DOI: 10.1002/humu.23062

  2. Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia

    Gaurav V. Harlalka, Meriel E. McEntagart, Neerja Gupta, Anna E. Skrzypiec, Mariusz W. Mucha, Barry A. Chioza, Michael A. Simpson, Ajith Sreekantan-Nair, Anthony Pereira, Sven Günther, Amir Jahic, Hamid Modarres, Heather Moore-Barton, Richard C. Trembath, Madhulika Kabra, Emma L. Baple, Seema Thakur, Michael A. Patton, Christian Beetz, Robert Pawlak and Andrew H. Crosby

    Version of Record online: 30 AUG 2016 | DOI: 10.1002/humu.23060

  3. MicroRNA Genetic Variation: From Population Analysis to Functional Implications of Three Allele Variants Associated with Cancer

    Ignasi Torruella-Loran, Hafid Laayouni, Begoña Dobon, Alicia Gallego, Ingrid Balcells, Eva Garcia-Ramallo and Yolanda Espinosa-Parrilla

    Version of Record online: 29 AUG 2016 | DOI: 10.1002/humu.23045

  4. Loss of Major DNase I Hypersensitive Sites in Duplicated β-globin Gene Cluster Incompletely Silences HBB Gene Expression

    N. Scott Reading, Claire Shooter, Jihyun Song, Robin Miller, Archana Agarwal, Lucie Lanikova, Barnaby Clark, Swee Lay Thein, Vladimir Divoky and Josef T. Prchal

    Version of Record online: 25 AUG 2016 | DOI: 10.1002/humu.23061

  5. DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

    Muriel Girard, Albane A. Bizet, Alain Lachaux, Emmanuel Gonzales, Emilie Filhol, Sophie Collardeau-Frachon, Cécile Jeanpierre, Charline Henry, Monique Fabre, Loic Viremouneix, Louise Galmiche, Dominique Debray, Christine Bole-Feysot, Patrick Nitschke, Danièle Pariente, Catherine Guettier, Stanislas Lyonnet, Laurence Heidet, Aurelia Bertholet, Emmanuel Jacquemin, Alexandra Henrion-Caude and Sophie Saunier

    Version of Record online: 24 AUG 2016 | DOI: 10.1002/humu.23031


New video highlight created by Lusine Nazaryan-Petersen on her recently published Human Mutation paper entitled, "Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination."

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