Expanding theMYBPC1phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita

Myosin Binding Protein-C Slow Phosphorylation is Altered in Duchenne Dystrophy and Arthrogryposis Myopathy in Fast-Twitch Skeletal Muscles

(2015) Maegen A. Ackermann et al.   Scientific Reports

Two Novel Mutations in Myosin Binding Protein C Slow Causing Distal Arthrogryposis Type 2 in Two Large Han Chinese Families May Suggest Important Functional Role of Immunoglobulin Domain C2

(2015) Xuefu Li et al.   PLoS One

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles

(2014) Judith G. Hall   European Journal of Medical Genetics

Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow

(2013) Maegen A. Ackermann et al.   FASEB JOURNAL

MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis

(2013) Kyungsoo Ha et al.   HUMAN MOLECULAR GENETICS

SIFT Indel: Predictions for the Functional Effects of Amino Acid Insertions/Deletions in Proteins

(2013) Jing Hu et al.   PLoS One

Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1

(2012) Barak Markus et al.   HUMAN MUTATION

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Myosin Binding Protein-C: A Regulator of Actomyosin Interaction in Striated Muscle

(2011) Maegen A. Ackermann et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

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

(2011) Mark A DePristo et al.   NATURE GENETICS

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

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

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Arthrogryposis: A Review and Update

(2009) Michael Bamshad et al.   JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Alu Exonization Events Reveal Features Required for Precise Recognition of Exons by the Splicing Machinery

(2009) Schraga Schwartz et al.   PLoS Computational Biology

Intronic Alus Influence Alternative Splicing

(2008) Galit Lev-Maor et al.   PLoS Genetics