Autosomal recessive stickler syndrome due to a loss of function mutation in theCOL9A3gene

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome

(2011) Stuart Baker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy

(2010) Gail C. Jackson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia

(2010) Orly Goldstein et al.   MAMMALIAN GENOME

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

A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33

(2010) Ryan N. Traylor et al.   PLoS One

Disruption of Sodium Bicarbonate Transporter SLC4A10 in a Patient With Complex Partial Epilepsy and Mental Retardation

(2008) Christina A. Gurnett et al.   ARCHIVES OF NEUROLOGY

Effect of NeuroD2 expression on neuronal differentiation in mouse embryonic stem cells

(2008) Y SUGIMOTO et al.   CELL BIOLOGY INTERNATIONAL

Mutational analysis of the neurexin/neuroligin complex reveals essential and regulatory components

(2008) C. Reissner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA