Exome Sequencing Identifies an MYH3 Mutation in a Family with Distal Arthrogryposis Type 1

Evaluation of Embryonic and Perinatal Myosin Gene Mutations and the Etiology of Congenital Idiopathic Clubfoot

(2011) William Shyy et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS

Familial Isolated Clubfoot Is Associated with Recurrent Chromosome 17q23.1q23.2 Microduplications Containing TBX4

(2010) David M. Alvarado et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

(2010) Christina A. Gurnett et al.   HUMAN MOLECULAR GENETICS

Massively parallel sequencing and rare disease

(2010) S. B. Ng et al.   HUMAN MOLECULAR GENETICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Epigenetic modifications and human disease

(2010) Anna Portela et al.   NATURE BIOTECHNOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Skeletal Muscle Contractile Gene (TNNT3, MYH3, TPM2) Mutations Not Found in Vertical Talus or Clubfoot

(2009) Christina A. Gurnett et al.   CLINICAL ORTHOPAEDICS AND RELATED RESEARCH

Sheldon-Hall syndrome

(2009) Reha M Toydemir et al.   Orphanet Journal of Rare Diseases

Early Results of the Ponseti Method for the Treatment of Clubfoot in Distal Arthrogryposis

(2008) Stephanie Boehm et al.   JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME