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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
- Effects of Different Variants in the ENPP1-Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1 (E-NPP1)
Jacqueline Stella, Insa Buers, Koen van de Wetering, Wolfgang Höhne, Frank Rutsch and Yvonne Nitschke
Accepted manuscript online: 28 JUL 2016 08:15AM EST | DOI: 10.1002/humu.23057
- You have full text access to this OnlineOpen articleThree-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
- 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
- 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
- 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
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."
"IN THIS ISSUE" Featured Articles
Free access “In This Issue” essays spotlight notable articles in Human Mutation issues.
Serial Hunt for Ciliary Genes in Complex Syndromes
Special Issue: 25 Years of Discovery in Human Genetics
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Read this special issue FREE online.
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Focus on CNV Detection with Diagnostic Arrays - Volume 33, Issue 6
Focus on the NIH Undiagnosed Diseases Program - Volume 33, Issue 4