Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family

CONTRA: copy number analysis for targeted resequencing

(2012) Jason Li et al.   BIOINFORMATICS

Disease gene identification strategies for exome sequencing

(2012) Christian Gilissen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families

(2012) Jeong-In Baek et al.   Orphanet Journal of Rare Diseases

Whole-Exome Sequencing Identifies Mutations of KIF22 in Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type

(2011) Byung-Joo Min et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

(2011) Gregory M. Cooper et al.   NATURE REVIEWS GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Genotype and SNP calling from next-generation sequencing data

(2011) Rasmus Nielsen et al.   NATURE REVIEWS GENETICS

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

(2011) Katherine R Smith et al.   GENOME BIOLOGY

Mycobacterium abscessus Hand Infections in Immunocompetent Fish Handlers: Case Report

(2010) Gavin C.W. Kang et al.   JOURNAL OF HAND SURGERY-AMERICAN VOLUME

Autosomal Recessive Multiple Epiphyseal Dysplasia in a Korean Girl Caused by Novel Compound Heterozygous Mutations in the DTDST (SLC26A2) Gene

(2010) Tae-Joon Cho et al.   JOURNAL OF KOREAN MEDICAL SCIENCE

A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1

(2010) T.-J. Cho et al.   JOURNAL OF MEDICAL GENETICS

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

(2010) Peter M Krawitz et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Hearing Impairment: A Panoply of Genes and Functions

(2010) Amiel A. Dror et al.   NEURON

Exome Sequencing,ANGPTL3Mutations, and Familial Combined Hypolipidemia

(2010) Kiran Musunuru et al.   NEW ENGLAND JOURNAL OF MEDICINE

Do Liposomal Apoptotic Enhancers Increase Tumor Coagulation and End-Point Survival in Percutaneous Radiofrequency Ablation of Tumors in a Rat Tumor Model?

(2010) Wei Yang et al.   RADIOLOGY

β-Actin and γ-Actin Are Each Dispensable for Auditory Hair Cell Development But Required for Stereocilia Maintenance

(2010) Benjamin J. Perrin et al.   PLoS Genetics

Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population

(2009) Bao-Yong Sha et al.   JOURNAL OF HUMAN GENETICS

Genetic Compensation in a Human Genomic Disorder

(2009) Nadège Carelle-Calmels et al.   NEW ENGLAND JOURNAL OF MEDICINE

 -Actin is required for cytoskeletal maintenance but not development

(2009) I. A. Belyantseva et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Defensins and the dynamic genome: What we can learn from structural variation at human chromosome band 8p23.1

(2008) E. J. Hollox et al.   GENOME RESEARCH

Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family

(2008) Ping Liu et al.   Journal of Genetics and Genomics

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE