Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

(2013) Gea Beunders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

(2013) Anath C. Lionel et al.   HUMAN MOLECULAR GENETICS

SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders

(2013) Catalina Betancur et al.   Molecular Autism

Highly Penetrant Alterations of a Critical Region Including BDNF in Human Psychopathology and Obesity

(2012) Carl Ernst et al.   ARCHIVES OF GENERAL PSYCHIATRY

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

(2012) Dheeraj Malhotra et al.   CELL

Genetic architecture in autism spectrum disorder

(2012) Bernie Devlin et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

(2012) Sandesh C S Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Altered Balance of Proteolytic Isoforms of Pro-Brain-Derived Neurotrophic Factor in Autism

(2012) Kristine L.P. Garcia et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Genome-Wide Analysis Shows Increased Frequency of Copy Number Variation Deletions in Dutch Schizophrenia Patients

(2011) Jacobine E. Buizer-Voskamp et al.   BIOLOGICAL PSYCHIATRY

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

(2011) Jillian P. Casey et al.   HUMAN GENETICS

Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders

(2011) MARIA PICCIONE et al.   JOURNAL OF GENETICS

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

(2011) Dalila Pinto et al.   NATURE BIOTECHNOLOGY

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

(2011) Dan Levy et al.   NEURON

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype

(2011) Mario Mastrangelo et al.   PEDIATRIC NEUROLOGY

Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD

(2011) A. C. Lionel et al.   Science Translational Medicine

Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals

(2010) Laura Thorson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rare Copy Number VariantsA Point of Rarity in Genetic Risk for Bipolar Disorder and SchizophreniaRare Copy Number Variants

(2010) Detelina Grozeva   ARCHIVES OF GENERAL PSYCHIATRY

Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/TrkB signaling in autism

(2010) C. T. Correia et al.   GENES BRAIN AND BEHAVIOR

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

(2010) Ruxandra Bachmann-Gagescu et al.   GENETICS IN MEDICINE

Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16

(2010) Nicola H. Chapman et al.   HUMAN GENETICS

A genome-wide scan for common alleles affecting risk for autism

(2010) R. Anney et al.   HUMAN MOLECULAR GENETICS

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

(2010) A Piton et al.   MOLECULAR PSYCHIATRY

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

(2010) Dalila Pinto et al.   NATURE

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

(2010) Simone Berkel et al.   NATURE GENETICS

Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

(2010) A. Noor et al.   Science Translational Medicine

Neuronal calcium sensors and synaptic plasticity

(2009) Mascia Amici et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Kinesin Family Member 6 Variant Trp719Arg Does Not Associate With Angiographically Defined Coronary Artery Disease in the Ottawa Heart Genomics Study

(2009) Alexandre F.R. Stewart et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Large, rare chromosomal deletions associated with severe early-onset obesity

(2009) Elena G. Bochukova et al.   NATURE

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

(2009) Joseph T. Glessner et al.   NATURE

Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder

(2009) Abdul Noor et al.   PSYCHIATRIC GENETICS

Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes

(2009) Maja Bucan et al.   PLoS Genetics

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

(2008) A. Piton et al.   HUMAN MOLECULAR GENETICS

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

(2008) D T Miller et al.   JOURNAL OF MEDICAL GENETICS

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities

(2007) Bradley L. Griggs et al.   GENOMICS