Human Mutation

Cover image for Vol. 36 Issue 9

Edited By: Richard G.H. Cotton and Garry R. Cutting

Impact Factor: 5.34

ISI Journal Citation Reports © Ranking: 2014: 26/167 (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.

Brianne Kirkpatrick and colleagues

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



Wei-Ping Liao

Video highlight created by Wei-Ping Liao on his published paper in Human Mutation paper entitled, "The SCN1A, Mutation Database: Updating Information and Analysis of the Relationships Among Genotype, Functional Alteration, and Phenotype."



Miao-Xin Li and Mulin-Jun Li

Video highlight created by Miao-Xin Li and Mulin-Jun Li on their published Human Mutation paper entitled, "wKGGSeq: A comprehensive strategy-based and disease-targeted online framework to facilitate exome sequencing studies of inherited disorders."



Sudipto Roy, Vijayashankaranarayanan Narasimhan, Heymut Omran, and Rim Hjeij

Video highlight created by Sudipto Roy, Vijayashankaranarayanan Narasimhan, Heymut Omran, and Rim Hjeij on their published Human Mutation paper entitled, "Mutations in CCDC11, Which Encodes a Coiled-coil Containing Ciliary Protein, Causes situs inversus Due to Dysmotility of Monocilia in the Left-Right Organizer."



Lars Björn Riecken, Helen Morrison, and Rami Abou Jamra

Video highlight created by Lars Björn Riecken, Helen Morrison, and Rami Abou Jamra on their published Human Mutation paper entitled, "Inhibition of RAS Activation Due to a Homozygous Ezrin Variant in Patients with Profound Intellectual Disability."

SEARCH

SEARCH BY CITATION