Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome (Q38713712)

5 September 2017

Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome (English)

1 reference

5 September 2017

1 reference

18

Johannes Hebebrand

0 references

Elliott Rees

Elliott Rees

45

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Yulia Worbe

Yulia Worbe

24

0 references

Paul Sandor

Paul Sandor

13

0 references

Danielle Posthuma

Danielle Posthuma

49

0 references

Guy A. Rouleau

21

Guy Rouleau

1 reference

5 September 2017

Dongmei Yu

2

0 references

Zsanett Tarnok

Zsanett Tarnok

35

0 references

Cathy L. Barr

Cathy L Barr

14

0 references

Michael S. Okun

43

Michael S Okun

1 reference

5 September 2017

51

Nancy J Cox

1 reference

5 September 2017

55

Carol A Mathews

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5 September 2017

52

Benjamin M Neale

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5 September 2017

47

Michele T Pato

1 reference

5 September 2017

34

Csaba Barta

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5 September 2017

39

Danielle C Cath

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5 September 2017

56

Jeremiah M Scharf

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5 September 2017

12

Cornelia Illmann

1 reference

5 September 2017

9

Lisa Osiecki

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5 September 2017

22

Cathy L Budman

1 reference

5 September 2017

29

Mara Stamenkovic

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5 September 2017

23

Christel Depienne

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5 September 2017

41

Cheston Berlin

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5 September 2017

28

Harald Aschauer

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5 September 2017

32

Gholson J Lyon

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5 September 2017

6

Vasily Ramensky

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5 September 2017

38

Renata Rizzo

1 reference

5 September 2017

Alden Y Huang

1

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5 September 2017

Lea K Davis

3

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5 September 2017

Jae Hoon Sul

4

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5 September 2017

Fotis Tsetsos

5

1 reference

5 September 2017

Ivette Zelaya

7

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5 September 2017

Eliana Marisa Ramos

8

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5 September 2017

Jason A Chen

10

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5 September 2017

Lauren M McGrath

11

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5 September 2017

Marco Grados

15

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5 September 2017

Harvey S Singer

16

1 reference

5 September 2017

Markus M Nöthen

17

1 reference

5 September 2017

Robert A King

19

1 reference

5 September 2017

Yves Dion

20

1 reference

5 September 2017

Andreas Hartmann

25

1 reference

5 September 2017

Kirsten R Müller-Vahl

26

1 reference

5 September 2017

Manfred Stuhrmann

27

1 reference

5 September 2017

Monika Schloegelhofer

30

1 reference

5 September 2017

Anastasios Konstantinidis

31

1 reference

5 September 2017

William M McMahon

33

1 reference

5 September 2017

Peter Nagy

36

1 reference

5 September 2017

James R Batterson

37

1 reference

5 September 2017

Tomasz Wolanczyk

40

1 reference

5 September 2017

Irene A Malaty

42

1 reference

5 September 2017

Douglas W Woods

44

1 reference

5 September 2017

Carlos N Pato

46

1 reference

5 September 2017

James A Knowles

48

1 reference

5 September 2017

David L Pauls

50

1 reference

5 September 2017

Nelson B Freimer

53

1 reference

5 September 2017

Peristera Paschou

54

1 reference

5 September 2017

Giovanni Coppola

57

1 reference

5 September 2017

Tourette Syndrome Association International Consortium for Genetics (TSAICG)

58

1 reference

5 September 2017

Gilles de la Tourette Syndrome GWAS Replication Initiative (GGRI)

59

1 reference

5 September 2017

language of work or name

English

0 references

publication date

1 June 2017

1 reference

5 September 2017

1 reference

5 September 2017

94

1 reference

5 September 2017

6

1 reference

5 September 2017

1101-1111.e7

1 reference

De Novo Coding Variants Are Strongly Associated with Tourette Disorder

5 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

A current view on contactin-4, -5, and -6: Implications in neurodevelopmental disorders

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Brain structure in pediatric Tourette syndrome

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Prenatal Maternal Smoking and Increased Risk for Tourette Syndrome and Chronic Tic Disorders.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Astrocytes Assemble Thalamocortical Synapses by Bridging NRX1α and NL1 via Hevin

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Specification of synaptic connectivity by cell surface interactions.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Obstetric and Neonatal Adversities, Parity, and Tourette Syndrome: A Nationwide Registry

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

A fronto-striato-subthalamic-pallidal network for goal-directed and habitual inhibition

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Single-Cell mRNA Profiling Reveals Cell-Type-Specific Expression of Neurexin Isoforms

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Familial Risks of Tourette Syndrome and Chronic Tic Disorders. A Population-Based Cohort Study

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Web-based phenotyping for Tourette Syndrome: Reliability of common co-morbid diagnoses

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Second-generation PLINK: rising to the challenge of larger and richer datasets

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Familial clustering of tic disorders and obsessive-compulsive disorder

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Lifetime prevalence, age of risk, and genetic relationships of comorbid psychiatric disorders in Tourette syndrome

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Population prevalence of Tourette syndrome: a systematic review and meta-analysis

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Targeted combinatorial alternative splicing generates brain region-specific repertoires of neurexins.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Increased GABA contributes to enhanced control over motor excitability in Tourette syndrome

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Genetic association signal near NTN4 in Tourette syndrome

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

fastSTRUCTURE: variational inference of population structure in large SNP data sets

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

The genomic psychiatry cohort: partners in discovery

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Genome-wide association study of Tourette's syndrome

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

CNVs: harbingers of a rare variant revolution in psychiatric genetics

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Chromosomal variation in lymphoblastoid cell lines

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Loss of neural recognition molecule NB-3 delays the normal projection and terminal branching of developing corticospinal tract axons in the mouse

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Tourette syndrome is associated with recurrent exonic copy number variants

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Discovering genetic ancestry using spectral graph theory

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Functional disturbances within frontostriatal circuits across multiple childhood psychopathologies

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Phenomics: the systematic study of phenotypes on a genome-wide scale

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Tourette syndrome and comorbid pervasive developmental disorders.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Multiple testing with minimal assumptions

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Sequence variants in SLITRK1 are associated with Tourette's syndrome

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Cohort profile: 1958 British birth cohort (National Child Development Study).

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Novel neural adhesion molecules in the Contactin/F3 subgroup of the immunoglobulin superfamily: isolation and characterization of cDNAs from rat brain

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Neurexins: synaptic cell surface proteins related to the alpha-latrotoxin receptor and laminin

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568251

Investigation of NRXN1 deletions: clinical and molecular characterization

31 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28641109

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Gilles de la Tourette syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28641109

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Association of cortical disinhibition with tic, ADHD, and OCD severity in Tourette syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28641109

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NEURON.2017.06.010

1 reference

5 September 2017

0 references

1 reference