Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV

Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy

(2010) Konstantinos Nikopoulos et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

(2010) James A. Poulter et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features

(2010) Johannes G. Dauwerse et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

(2010) Simone Berkel et al.   NATURE GENETICS

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

(2010) Y. Shen et al.   PEDIATRICS

The Norrin/Frizzled4 signaling pathway in retinal vascular development and disease

(2010) Xin Ye et al.   TRENDS IN MOLECULAR MEDICINE

Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility

(2009) Holly N. Cukier et al.   Autism Research

TSPAN12 Regulates Retinal Vascular Development by Promoting Norrin- but Not Wnt-Induced FZD4/β-Catenin Signaling

(2009) Harald J. Junge et al.   CELL

Persistent hyperplastic primary vitreous: congenital malformation of the eye

(2009) Barkur S Shastry   CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Comment on “Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients”

(2009) Alal Eran et al.   JOURNAL OF CLINICAL INVESTIGATION

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

(2009) Joseph T. Glessner et al.   NATURE

Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene

(2008) Maricela Alarcón et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism

(2008) Dan E. Arking et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

(2008) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Proximal interstitial 1p36 deletion syndrome: The most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2)

(2008) Keiko Shimojima et al.   BRAIN & DEVELOPMENT