Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

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

De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment

(2010) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism

(2010) Xin-Li Huang 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

Genome Scan for Spelling Deficits: Effects of Verbal IQ on Models of Transmission and Trait Gene Localization

(2010) Kevin Rubenstein et al.   BEHAVIOR GENETICS

A Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1

(2010) Roberta Buonincontri et al.   BEHAVIOR GENETICS

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

Etiology and neuropsychology of comorbidity between RD and ADHD: The case for multiple-deficit models

(2010) Erik G. Willcutt et al.   CORTEX

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

(2010) Denise Horn et al.   HUMAN MUTATION

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis

(2010) Nigel M Williams et al.   LANCET

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

(2010)   NATURE

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

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

(2010) Gerald D. Fischbach et al.   NEURON

A Draft Sequence of the Neandertal Genome

(2010) R. E. Green et al.   SCIENCE

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

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

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

(2010) Heather C. Mefford et al.   PLoS Genetics

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

(2009) C. G. F. de Kovel et al.   BRAIN

Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology

(2009) Francesco Bedogni et al.   GENE EXPRESSION PATTERNS

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

(2009) George Kirov et al.   HUMAN MOLECULAR GENETICS

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

(2009) S C Sreenath Nagamani et al.   JOURNAL OF MEDICAL GENETICS

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

(2009) J Elia et al.   MOLECULAR PSYCHIATRY

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility

(2009) E Maestrini et al.   MOLECULAR PSYCHIATRY

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

(2009) Joseph T. Glessner et al.   NATURE

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE 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

Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

(2008) Bingshan Li 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

Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa

(2008) Rob W.J. Collin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders

(2008) Betul Bakkaloglu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

3q29 interstitial microduplication: A new syndrome in a three-generation family

(2008) Emily C. Lisi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype

(2008) Maria Clara Bonaglia et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

(2008) Mai M Abd El-Aziz et al.   NATURE GENETICS

A Functional Genetic Link between Distinct Developmental Language Disorders

(2008) Sonja C. Vernes et al.   NEW ENGLAND JOURNAL OF MEDICINE

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

(2008) Blake C Ballif et al.   Molecular Cytogenetics

A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs)

(2008) David Melzer et al.   PLoS Genetics