Human Mutation

Cover image for Vol. 37 Issue 8

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. Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing Variations

    Louise A Metherell, José Afonso Guerra-Assunção, Michael J Sternberg and Alessia David

    Accepted manuscript online: 26 JUL 2016 10:26AM EST | DOI: 10.1002/humu.23046

  2. TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family

    Dino Maglic, Joshi Stephen, May Christine V. Malicdan, Jennifer Guo, Roxanne Fischer, Daniel Konzman, NISC Comparative Sequencing Program, James C. Mullikin, William A. Gahl, Thierry Vilboux and Meral Gunay-Aygun

    Accepted manuscript online: 23 JUL 2016 04:00AM EST | DOI: 10.1002/humu.23054

  3. Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism

    Elena Sanchez, Hossein Darvish, Roxana Mesias, Shaghyegh Taghavi, Saghar Ghasemi Firouzabadi, Ruth H. Walker, Abbas Tafakhori and Coro Paisán-Ruiz

    Accepted manuscript online: 23 JUL 2016 04:00AM EST | DOI: 10.1002/humu.23055

  4. New Directions in Gaucher Disease

    Mia Horowitz, Deborah Elstein, Ari Zimran and Ozlem Goker-Alpan

    Accepted manuscript online: 23 JUL 2016 04:00AM EST | DOI: 10.1002/humu.23056

  5. Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome

    Heleen M. van der Klift, Arjen R. Mensenkamp, Mark Drost, Elsa C. Bik, Yvonne J. Vos, Hans J.J.P. Gille, Bert E.J.W. Redeker, Yvonne Tiersma, José B.M. Zonneveld, Encarna Gómez García, Tom G.W. Letteboer, Maran J.W. Olderode-Berends, Liselotte P. van Hest, Theo A. van Os, Senno Verhoef, Anja Wagner, Christi J. van Asperen, Sanne W. ten Broeke, Frederik J. Hes, Niels de Wind, Maartje Nielsen, Peter Devilee, Marjolijn J.L. Ligtenberg, Juul T. Wijnen and Carli M.J. Tops

    Accepted manuscript online: 20 JUL 2016 03:50AM EST | DOI: 10.1002/humu.23052

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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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