A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3

Characterization of a Family with Rare Deletions in CNTNAP5 and DOCK4 Suggests Novel Risk Loci for Autism and Dyslexia

(2010) Alistair T. Pagnamenta et al.   BIOLOGICAL PSYCHIATRY

Pregnenolone Sulphate- and Cholesterol-Regulated TRPM3 Channels Coupled to Vascular Smooth Muscle Secretion and Contraction

(2010) Jacqueline Naylor et al.   CIRCULATION RESEARCH

Comparing family members’ motivations and attitudes towards genetic testing for hereditary breast and ovarian cancer: a qualitative analysis

(2010) Caroline Dancyger et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

What is a meaningful result? Disclosing the results of genomic research in autism to research participants

(2010) Fiona Alice Miller et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

TRPM3 is expressed in sphingosine-responsive myelinating oligodendrocytes

(2010) Anja Hoffmann et al.   JOURNAL OF NEUROCHEMISTRY

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Dystrophin Gene Mutation Location and the Risk of Cognitive Impairment in Duchenne Muscular Dystrophy

(2010) Peter J. Taylor et al.   PLoS One

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome

(2009) Hideo Kuniba et al.   JOURNAL OF HUMAN GENETICS

Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing

(2009) T Schwarzbraun et al.   JOURNAL OF MEDICAL GENETICS

Association of Autistic Spectrum Disorders With Dystrophinopathies

(2009) Veronica J. Hinton et al.   PEDIATRIC NEUROLOGY

Epidemiology of Pervasive Developmental Disorders

(2009) Eric Fombonne   PEDIATRIC RESEARCH

Role of Mental Retardation-Associated Dystrophin-Gene Product Dp71 in Excitatory Synapse Organization, Synaptic Plasticity and Behavioral Functions

(2009) Fatma Daoud et al.   PLoS One

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

Neuropsychiatric Disorders in Males With Duchenne Muscular Dystrophy: Frequency Rate of Attention-Deficit Hyperactivity Disorder (ADHD), Autism Spectrum Disorder, and Obsessive—Compulsive Disorder

(2008) Joseph G. M. Hendriksen et al.   JOURNAL OF CHILD NEUROLOGY

Copy-number variations associated with neuropsychiatric conditions

(2008) Edwin H. Cook Jr et al.   NATURE

A TRP channel-steroid marriage

(2008) Bernd Nilius et al.   NATURE CELL BIOLOGY

Advances in autism genetics: on the threshold of a new neurobiology

(2008) Brett S. Abrahams et al.   NATURE REVIEWS GENETICS