Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

(2015) Xiaolin Zhu et al.   GENETICS IN MEDICINE

Etiopathogenesis of equinovarus foot malformations

(2014) Carlos A. Bacino et al.   European Journal of Medical Genetics

Filamin-interacting proteins, Cfm1 and Cfm2, are essential for the formation of cartilaginous skeletal elements

(2014) Koji Mizuhashi et al.   HUMAN MOLECULAR GENETICS

Filamin B Regulates Chondrocyte Proliferation and Differentiation through Cdk1 Signaling

(2014) Jianjun Hu et al.   PLoS One

Identification of aDe NovoHeterozygous MissenseFLNBMutation in Lethal Atelosteogenesis Type I by Exome Sequencing

(2014) Ga Won Jeon et al.   Annals of Laboratory Medicine

Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the sameFLNBresidue

(2013) Ben C. Li et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular defects identified by whole exome sequencing in a child with Fanconi anemia

(2013) Zhaojing Zheng et al.   GENE

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

(2013) B. Coste et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Studies ofTBX4and chromosome 17q23.1q23.2: An uncommon cause of nonsyndromic clubfoot

(2012) W. Lu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

(2012) T. J. Dixon-Salazar et al.   Science Translational Medicine

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

FZD6is a novel gene for human neural tube defects

(2011) Patrizia De Marco et al.   HUMAN MUTATION

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

(2011) Philip B. Daniel et al.   HUMAN MUTATION

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Smoking, the xenobiotic pathway, and clubfoot

(2010) Amy Sommer et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

(2009) Daniel C. Koboldt et al.   BIOINFORMATICS

Asymmetric Lower-Limb Malformations in Individuals with Homeobox PITX1 Gene Mutation

(2008) Christina A. Gurnett et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Polygenic Threshold Model with Sex Dimorphism in Clubfoot Inheritance: The Carter Effect

(2008) Lisa M Kruse et al.   JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME