© Wiley Periodicals, Inc.
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
- SLC4A11 Three-Dimensional Homology Model Rationalizes Corneal Dystrophy-causing Mutations
Katherine E. Badior, Kumari Alka and Joseph R. Casey
Accepted manuscript online: 7 DEC 2016 10:40AM EST | DOI: 10.1002/humu.23152
- Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects via Disrupting Apical Tight Junction Formation
Xiaoli Chen, Yu An, Yonghui Gao, Liu Guo, Lei Rui, Hua Xie, Mei Sun, Siv Lam Hung, Xiaoming Sheng, Jizhen Zou, Yihua Bao, Hongyan Guan, Bo Niu, Zandong Li, Richard H. Finnell, James F. Gusella, Bai-Lin Wu and Ting Zhang
Accepted manuscript online: 7 DEC 2016 10:40AM EST | DOI: 10.1002/humu.23153
- How to Define Pathogenicity, Health, and Disease?
Version of Record online: 6 DEC 2016 | DOI: 10.1002/humu.23144
- Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation
Daniel Nilsson, Maria Pettersson, Peter Gustavsson, Alisa Förster, Wolfgang Hofmeister, Josephine Wincent, Vasilios Zachariadis, Britt-Marie Anderlid, Ann Nordgren, Outi Mäkitie, Valtteri Wirta, Max Käller, Francesco Vezzi, James R Lupski, Magnus Nordenskjöld, Elisabeth Syk Lundberg, Claudia M. B. Carvalho and Anna Lindstrand
Version of Record online: 5 DEC 2016 | DOI: 10.1002/humu.23146
- A Cell Type-Specific Expression Signature Predicts Haploinsufficient Autism-Susceptibility Genes
Chaolin Zhang and Yufeng Shen
Version of Record online: 5 DEC 2016 | DOI: 10.1002/humu.23147
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
Read this special issue FREE online:
Read this special issue FREE online.
Other Human Mutation Special Issues, FREE Online:
See also these free Focus Sections:
Focus on CNV Detection with Diagnostic Arrays - Volume 33, Issue 6
Focus on the NIH Undiagnosed Diseases Program - Volume 33, Issue 4