Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome

(2011) Makiko Meguro-Horike et al.   HUMAN MOLECULAR GENETICS

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

(2011) C. P. Schaaf et al.   HUMAN MOLECULAR GENETICS

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

Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses

(2011) Sarah R. Gilman 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

Confirmed rare copy number variants implicate novel genes in schizophrenia

(2010) Gloria W.C. Tam et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

(2010) Catalina Betancur   BRAIN RESEARCH

Delineation of 15q13.3 microdeletions

(2010) A Masurel-Paulet et al.   CLINICAL GENETICS

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders

(2010) Jill A Rosenfeld et al.   GENETICS IN MEDICINE

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

(2010) Przemyslaw Szafranski et al.   HUMAN MUTATION

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

(2010) Dalila Pinto et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Direct conversion of fibroblasts to functional neurons by defined factors

(2010) Thomas Vierbuchen et al.   NATURE

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

(2010) Santhosh Girirajan et al.   NATURE GENETICS

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

(2010) Simone Berkel et al.   NATURE GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

(2010) Y. Shen et al.   PEDIATRICS

De novo mutations in the gene encoding the synaptic scaffolding proteinSHANK3in patients ascertained for schizophrenia

(2010) Julie Gauthier et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Postsynaptic scaffolds for nicotinic receptors on neurons

(2009) Robert A Neff et al.   ACTA PHARMACOLOGICA SINICA

Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders

(2009) Christel Depienne et al.   BIOLOGICAL PSYCHIATRY

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

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

Dendritic signalling and homeostatic adaptation

(2009) Lily MY Yu et al.   CURRENT OPINION IN NEUROBIOLOGY

A synaptic trek to autism

(2009) Thomas Bourgeron   CURRENT OPINION IN NEUROBIOLOGY

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

(2009) Marianne Doornbos et al.   European Journal of Medical Genetics

Activity-driven mobilization of post-synaptic proteins

(2009) R. Carolina Gutiérrez et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Syntrophin-2 is required for eye development in Drosophila

(2009) Rika Nagai et al.   EXPERIMENTAL CELL RESEARCH

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

(2009) George Kirov et al.   HUMAN MOLECULAR GENETICS

Presynaptic Targeting of α4β2 Nicotinic Acetylcholine Receptors Is Regulated by Neurexin-1β

(2009) Shi-Bin Cheng et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

(2009) S Ben-Shachar et al.   JOURNAL OF MEDICAL GENETICS

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

(2009) B W M van Bon et al.   JOURNAL OF MEDICAL GENETICS

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

(2009) Marwan Shinawi et al.   NATURE GENETICS

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder

(2009) Martin Poot et al.   NEUROGENETICS

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients

(2008) Terry Vrijenhoek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder

(2008) Susan L. Christian et al.   BIOLOGICAL PSYCHIATRY

The Autistic Neuron: Troubled Translation?

(2008) Raymond J. Kelleher et al.   CELL

A 15q13.3 microdeletion segregating with autism

(2008) Alistair T Pagnamenta et al.   EUROPEAN JOURNAL OF HUMAN 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

Multiple cell adhesion molecules shaping a complex nicotinic synapse on neurons

(2008) Gallen B. Triana-Baltzer et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Neuroligins and neurexins link synaptic function to cognitive disease

(2008) Thomas C. Südhof   NATURE

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

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS