Human Mutation

Cover image for Vol. 38 Issue 7

Edited By: Garry R. Cutting

Impact Factor: 4.601

ISI Journal Citation Reports © Ranking: 2016: 29/166 (Genetics & Heredity)

Online ISSN: 1098-1004

Video Highlights


We are pleased to present you Human Mutation Video Highlights: summaries of recently published Human Mutation articles created by the articles’ authors. To view all of Human Mutation's video highlights, please visit the Wiley Video Highlights Human Mutation YouTube page.

Ambry Genetics

Video highlight created by Research Square on the newly published paper in Human Mutation entitled, "Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications."



Kakkhee Yeung

Video highlight created by Kakkhee Yeung on her published paper in Human Mutation entitled, "Transdifferentiation of Human Dermal Fibroblasts to Smooth Muscle-Like Cells to Study the Effect of MYH11 and ACTA2 Mutations in Aortic Aneurysms."



Lusine Nazaryan-Petersen

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



Cindy Lee

Video highlight created by Cindy Lee on her published paper in Human Mutation entitled, "Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks."



Brianne Kirkpatrick and colleagues

Video highlight created by Brianne Kirkpatrick and colleagues on their published paper in Human Mutation entitled, "GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge."



Yuehua Zhang, Liping Wei, and colleagues

Video highlight created by Yuehua Zhang, Liping Wei, and colleagues on their published paper in Human Mutation entitled, "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “de novoSCN1A Mutations in Children with Dravet Syndrome."



Marika L. Osterbur

Video highlight created by Marika L. Osterbur on her published paper in Human Mutation entitled, "An Interdomain KCNH2 Mutation Produces An Intermediate Long Qt Syndrome."



Xiao-Nan Zhao and Karen Usdin

Video highlight created by Xiao-Nan Zhao and Karen Usdin on their published paper in Human Mutation entitled, "The Transcription-Coupled Repair Protein ERCC6/CSB Also Protects Against Repeat Expansion in a Mouse Model of the Fragile X Premutation."



Bikash R. Pattnaik, Xinying Liu, Pawan Shahi, and Nathan York

Video highlight created by Bikash R. Pattnaik, Xinying Liu, Pawan Shahi, and Nathan York on their published paper in Human Mutation entitled, "A Novel KCNJ13 Nonsense Mutation and loss of Kir7.1 channel function causes Leber Congenital Amaurosis (LCA16)."



Delfien Syx and Fransiska Malfait

Video highlight created by Delfien Syx and Fransiska Malfait on their published paper in Human Mutation entitled, "Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers–Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis."



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