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

SHANK1 Deletions in Males with Autism Spectrum Disorder

(2012) Daisuke Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders

(2012) Linh Duong et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Family History of Schizophrenia and Bipolar Disorder as Risk Factors for Autism

(2012) Patrick F. Sullivan et al.   ARCHIVES OF GENERAL PSYCHIATRY

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

Synaptopathies: diseases of the synaptome

(2012) Seth GN Grant   CURRENT OPINION IN NEUROBIOLOGY

Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: Genomic dissection makes the link with autism

(2012) Gaetan Lesca et al.   EPILEPSIA

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways

(2012) Anthony J. Griswold et al.   HUMAN MOLECULAR GENETICS

GABA system dysfunction in autism and related disorders: From synapse to symptoms

(2012) Suzanne Coghlan et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Gephyrin, the enigmatic organizer at GABAergic synapses

(2012) Verena Tretter et al.   Frontiers in Cellular Neuroscience

Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways

(2012) Candice K. Silversides et al.   PLoS Genetics

Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder

(2011) Andrea K. Vaags et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features

(2011) Gaetan Lesca et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Neurodevelopmental hypothesis of schizophrenia

(2011) Michael J. Owen et al.   BRITISH JOURNAL OF PSYCHIATRY

A GPHN point mutation leading to molybdenum cofactor deficiency

(2011) J Reiss et al.   CLINICAL GENETICS

Disentangling the Myriad Genomics of Complex Disorders, Specifically Focusing on Autism, Epilepsy, and Schizophrenia

(2011) M. Poot et al.   CYTOGENETIC AND GENOME RESEARCH

Epilepsy and the new cytogenetics

(2011) John C. Mulley et al.   EPILEPSIA

Bidirectional relation between schizophrenia and epilepsy: A population-based retrospective cohort study

(2011) Yu-Tzu Chang et al.   EPILEPSIA

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

(2011) Hutton M Kearney et al.   GENETICS IN MEDICINE

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

(2011) Julie Gauthier et al.   HUMAN GENETICS

Identification and functional characterization of rare mutations of the neuroligin-2 gene ( NLGN2 ) associated with schizophrenia

(2011) Chicheng Sun et al.   HUMAN MOLECULAR GENETICS

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy

(2011) Keiko Shimojima et al.   JOURNAL OF HUMAN GENETICS

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia

(2011) G Kirov et al.   MOLECULAR PSYCHIATRY

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

(2011) Dalila Pinto et al.   NATURE BIOTECHNOLOGY

Exome sequencing supports a de novo mutational paradigm for schizophrenia

(2011) Bin Xu et al.   NATURE GENETICS

High Frequencies of De Novo CNVs in Bipolar Disorder and Schizophrenia

(2011) Dheeraj Malhotra et al.   NEURON

The role of neurexins in schizophrenia and autistic spectrum disorder

(2011) A.C. Reichelt et al.   NEUROPHARMACOLOGY

Neuroligin-4 is localized to glycinergic postsynapses and regulates inhibition in the retina

(2011) M. Hoon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

Downregulation of gephyrin in temporal lobe epilepsy neurons in humans and a rat model

(2011) Min Fang et al.   SYNAPSE

Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts

(2010) Philip Awadalla et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Microdeletions of 3q29 Confer High Risk for Schizophrenia

(2010) Jennifer Gladys Mulle et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

(2010) Daniel Moreno-De-Luca et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Irregular RNA splicing curtails postsynaptic gephyrin in the cornu ammonis of patients with epilepsy

(2010) Benjamin Förstera et al.   BRAIN

Epilepsy and autism spectrum disorders: Are there common developmental mechanisms?

(2010) Amy Brooks-Kayal   BRAIN & DEVELOPMENT

Is schizophrenia on the autism spectrum?

(2010) Bryan H. King et al.   BRAIN RESEARCH

Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder

(2010) MT Carter et al.   CLINICAL GENETICS

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2

(2010) Jochen Reiss et al.   HUMAN MUTATION

Clinically detectable copy number variations in a Canadian catchment population of schizophrenia

(2010) Anne S. Bassett et al.   JOURNAL OF PSYCHIATRIC RESEARCH

Expanding the range of ZNF804A variants conferring risk of psychosis

(2010) S Steinberg 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

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

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

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

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

(2010) Roberto Toro et al.   TRENDS IN GENETICS

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

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

Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation

(2009) Audrey Guilmatre et al.   ARCHIVES OF GENERAL PSYCHIATRY

A synaptic trek to autism

(2009) Thomas Bourgeron   CURRENT OPINION IN NEUROBIOLOGY

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

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

(2009) B. A. Fernandez et al.   JOURNAL OF MEDICAL GENETICS

Copy number variations of chromosome 16p13.1 region associated with schizophrenia

(2009) A Ingason et al.   MOLECULAR PSYCHIATRY

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

(2009) Joseph T. Glessner et al.   NATURE

Microduplications of 16p11.2 are associated with schizophrenia

(2009) Shane E McCarthy et al.   NATURE GENETICS

Neuroligin 2 Drives Postsynaptic Assembly at Perisomatic Inhibitory Synapses through Gephyrin and Collybistin

(2009) Alexandros Poulopoulos et al.   NEURON

Identifying Relationships among Genomic Disease Regions: Predicting Genes at Pathogenic SNP Associations and Rare Deletions

(2009) Soumya Raychaudhuri et al.   PLoS Genetics

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

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

Epilepsy in Autism is Associated with Intellectual Disability and Gender: Evidence from a Meta-Analysis

(2008) Claire Amiet et al.   BIOLOGICAL PSYCHIATRY

Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area

(2008) Chiara Floris et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

(2008) Erin L Baldwin et al.   GENETICS IN MEDICINE

A balanced chromosomal translocation disruptingARHGEF9is associated with epilepsy, anxiety, aggression, and mental retardation

(2008) Vera M. Kalscheuer et al.   HUMAN MUTATION

Autism Spectrum Disorders and Childhood-Onset Schizophrenia: Clinical and Biological Contributions to a Relation Revisited

(2008) Judith Rapoport et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

(2008) Melissa B. Ramocki et al.   NATURE

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

Strong association of de novo copy number mutations with sporadic schizophrenia

(2008) Bin Xu et al.   NATURE GENETICS

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

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

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

Parental Psychiatric Disorders Associated With Autism Spectrum Disorders in the Offspring

(2008) J. L. Daniels et al.   PEDIATRICS

Gephyrin: where do we stand, where do we go?

(2008) Jean-Marc Fritschy et al.   TRENDS IN NEUROSCIENCES

Schizophrenia and 22q11.2 deletion syndrome

(2008) Anne S. Bassett et al.   Current Psychiatry Reports