(Q45796187)

16 December 2017

title

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

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16 December 2017

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28

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Lonnie Zwaigenbaum

15

Bhooma Thiruvahindrapuram

Lonnie Zwaigenbaum

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10

Bhooma Thiruvahindrapuram

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17

Peter Szatmari

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16 December 2017

13

Evdokia Anagnostou

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14

Eric Fombonne

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32

Stephen W Scherer

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16 December 2017

Aparna Prasad

12

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Jennelle C. Hodge

30

Jennelle C Hodge

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16 December 2017

Wendy Roberts

16

Wendy Roberts

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16 December 2017

Daniele Merico

11

Daniele Merico

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16 December 2017

Anath C. Lionel

1

Anath C Lionel

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16 December 2017

Bridget A. Fernandez

18

Bridget A Fernandez

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16 December 2017

Christian Marshall

25

Christian R Marshall

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16 December 2017

Gregory Costain

7

Gregory Costain

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16 December 2017

Matthew J Gazzellone

4

Matthew J Gazzellone

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16 December 2017

Andrea K Vaags

2

Andrea K Vaags

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16 December 2017

author name string

Daisuke Sato

3

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16 December 2017

Elyse B Mitchell

5

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16 December 2017

Hong Yang Chen

6

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16 December 2017

Susan Walker

8

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16 December 2017

Gerald Egger

9

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16 December 2017

Lyudmila Georgieva

19

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16 December 2017

Linda M Brzustowicz

20

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16 December 2017

Katharina Roetzer

21

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16 December 2017

Wolfgang Kaschnitz

22

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16 December 2017

John B Vincent

23

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16 December 2017

Christian Windpassinger

24

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16 December 2017

Rosario R Trifiletti

26

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16 December 2017

Salman Kirmani

27

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16 December 2017

Erwin Petek

29

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16 December 2017

Anne S Bassett

31

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16 December 2017

publication date

7 February 2013

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16 December 2017

published in

Human Molecular Genetics

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16 December 2017

volume

22

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16 December 2017

issue

10

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16 December 2017

page(s)

2055-2066

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16 December 2017

Gephyrin, the enigmatic organizer at GABAergic synapses

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Primary structure and alternative splice variants of gephyrin, a putative glycine receptor-tubulin linker protein

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Gephyrin antisense oligonucleotides prevent glycine receptor clustering in spinal neurons.

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Postsynaptic clustering of major GABAA receptor subtypes requires the gamma 2 subunit and gephyrin

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

21 January 2018

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

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Neuroligin 2 drives postsynaptic assembly at perisomatic inhibitory synapses through gephyrin and collybistin

21 January 2018

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

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Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

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

21 January 2018

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Rare deletions at the neurexin 3 locus in autism spectrum disorder

21 January 2018

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

21 January 2018

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

21 January 2018

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A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

21 January 2018

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

21 January 2018

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

21 January 2018

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SHANK1 Deletions in Males with Autism Spectrum Disorder

21 January 2018

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

21 January 2018

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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

21 January 2018

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De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Rare chromosomal deletions and duplications increase risk of schizophrenia

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

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

21 January 2018

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Detection of large-scale variation in the human genome

21 January 2018

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Positive and negative symptoms in families with schizophrenia

21 January 2018

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Location of a major susceptibility locus for familial schizophrenia on chromosome 1q21-q22

21 January 2018

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Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Epilepsy in autism is associated with intellectual disability and gender: evidence from a meta-analysis

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Model of autism: increased ratio of excitation/inhibition in key neural systems

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

The neurotransmitter receptor-anchoring protein gephyrin reconstitutes molybdenum cofactor biosynthesis in bacteria, plants, and mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

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

21 January 2018

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Reduced synaptic clustering of GABA and glycine receptors in the retina of the gephyrin null mutant mouse.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Gephyrin regulates the cell surface dynamics of synaptic GABAA receptors.

21 January 2018

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

21 January 2018

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

21 January 2018

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Large recurrent microdeletions associated with schizophrenia

21 January 2018

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3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Microdeletions of 3q29 confer high risk for schizophrenia

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

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

21 January 2018

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Association between microdeletion and microduplication at 16p11.2 and autism

21 January 2018

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Structural variation of chromosomes in autism spectrum disorder

21 January 2018

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

21 January 2018

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Microduplications of 16p11.2 are associated with schizophrenia

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Schizophrenia and 22q11.2 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Recurrent CNVs disrupt three candidate genes in schizophrenia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Strong association of de novo copy number mutations with sporadic schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Exome sequencing supports a de novo mutational paradigm for schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Expanding the range of ZNF804A variants conferring risk of psychosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

High frequencies of de novo CNVs in bipolar disorder and schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

A synaptic trek to autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Synaptopathies: diseases of the synaptome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Epilepsy and the new cytogenetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Autism spectrum disorders and childhood-onset schizophrenia: clinical and biological contributions to a relation revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Is schizophrenia on the autism spectrum?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Do Apparent Overlaps between Schizophrenia and Autistic Spectrum Disorders Reflect Superficial Similarities or Etiological Commonalities?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Neurodevelopmental hypothesis of schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Parental psychiatric disorders associated with autism spectrum disorders in the offspring

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Family history of schizophrenia and bipolar disorder as risk factors for autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Combining information from multiple sources in the diagnosis of autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Population analysis of large copy number variants and hotspots of human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

PLINK: a tool set for whole-genome association and population-based linkage analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT056

21 January 2018

Identifiers

DOI

10.1093/HMG/DDT056

1 reference

16 December 2017

1 reference

16 December 2017