Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

(2012) Jie Zhou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis

(2012) Klaus Dieterich et al.   HUMAN MOLECULAR GENETICS

Seckel Syndrome Accompanied by Semilobar Holoprosencephaly and Arthrogryposis

(2012) Dilek Sarici et al.   PEDIATRIC NEUROLOGY

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis

(2009) R. Attali et al.   HUMAN MOLECULAR GENETICS

Arthrogryposis: A Review and Update

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

A G Protein-Coupled Receptor Is Essential for Schwann Cells to Initiate Myelination

(2009) K. R. Monk et al.   SCIENCE