(Q21144917)

17 August 2022

20

Stacey S Cherny

Stacey S

Cherny

1 reference

17 August 2022

18

Stephen W Scherer

Stephen W

Scherer

1 reference

ORCID Public Data File 2021

17 August 2022

1 reference

9

You-Qiang

Song

You-Qiang Song

1 reference

17 August 2022

11

Kenneth

Cheung

Kenneth Cheung

1 reference

17 August 2022

7

Elly Sau-Wai

Ngan

Elly Sau-Wai Ngan

1 reference

17 August 2022

5

Xiao-Ping

Miao

Xiao-Ping Miao

1 reference

17 August 2022

Kenneth Kak-Yuen Wong

16

Kenneth Kak-Yuen

Wong

Kenneth Kak-Yuen Wong

1 reference

17 August 2022

21

Pak-Chung

Sham

Pak-Chung Sham

1 reference

17 August 2022

15

Xue-Lai

Liu

Xue-Lai Liu

1 reference

Maria-Mercè Garcia-Barcelo

17 August 2022

23

Maria-Mercè

Garcia-Barceló

Maria-Mercè Garcia-Barceló

1 reference

17 August 2022

6

Emily Hoi-Man

Wong

Emily Hoi-Man Wong

1 reference

17 August 2022

8

Vincent Chi-Hang

Lui

Vincent Chi-Hang Lui

1 reference

17 August 2022

22

Paul Kwong-Hang

Tam

Paul Kwong-Hang Tam

1 reference

17 August 2022

3

Man-Ting

So

Man-Ting So

1 reference

17 August 2022

Guo Cheng

2

Guo

Cheng

1 reference

17 August 2022

Benjamin Hon-Kei Yip

4

0 references

Danny Chan

10

Danny

Chan

1 reference

17 August 2022

Zhen-Wei Yuan

12

Zhen-Wei

Yuan

1 reference

17 August 2022

Liu Lei

13

Liu

Lei

1 reference

17 August 2022

Patrick Ho-Yu Chung

14

Patrick Ho-Yu

Chung

1 reference

17 August 2022

Christian R Marshall

17

Christian R

Marshall

1 reference

17 August 2022

Steve Scherer

Creative Commons Attribution 4.0 International

19

0 references

language of work or name

English

0 references

publication date

2012

0 references

published in

PLOS Genetics

0 references

volume

8

0 references

issue

5

0 references

page(s)

e1002687

0 references

copyright license

start time

10 May 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

ENCODE whole-genome data in the UCSC genome browser (2011 update)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

A map of human genome variation from population-scale sequencing

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Large, rare chromosomal deletions associated with severe early-onset obesity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Fine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophrenia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Rare chromosomal deletions and duplications increase risk of schizophrenia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Impact of whole genome amplification on analysis of copy number variants

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Interactions among genes in the ErbB-Neuregulin signalling network are associated with increased susceptibility to schizophrenia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Global variation in copy number in the human genome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Neuregulin 1 transcripts are differentially expressed in schizophrenia and regulated by 5' SNPs associated with the disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Neuregulin 1 and susceptibility to schizophrenia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Complex interactions between genes controlling trafficking in primary cilia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Association of the NRG1 gene and schizophrenia: a meta-analysis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Sonic hedgehog regulates the proliferation, differentiation, and migration of enteric neural crest cells in gut

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Hedgehog signals regulate multiple aspects of gastrointestinal development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Glycosylphosphatidylinositol anchored recognition molecules that function in axonal fasciculation, growth and guidance in the nervous system

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Origins and functional impact of copy number variation in the human genome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Common genetic variation in Neuregulin 3 (NRG3) influences risk for schizophrenia and impacts NRG3 expression in human brain

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Fine mapping of the 9q31 Hirschsprung's disease locus.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Endoderm-derived Sonic hedgehog and mesoderm Hand2 expression are required for enteric nervous system development in zebrafish.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

The role of NRG3 in mammary development

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Hirschsprung disease, associated syndromes and genetics: a review

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Disease-associated intronic variants in the ErbB4 gene are related to altered ErbB4 splice-variant expression in the brain in schizophrenia

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Linear and non-linear measures indicate gastric dysmotility in patients suffering from acute schizophrenia

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in 80 patients with Hirschsprung disease (using multiplex ligation-dependent probe amplification).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Segregation at three loci explains familial and population risk in Hirschsprung disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Application of metaphase HR-CGH and targeted Chromosomal Microarray Analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features.

30 May 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002687

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002687

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002687

Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002687

Expanding the phenotypic spectrum of L1CAM-associated disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002687

Mapping of a Hirschsprung's disease locus in 3p21

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002687

A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002687

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002687

Colonic transit time in mentally retarded persons

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002687

Mutations in the NRG1 gene are associated with Hirschsprung disease

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Neuregulin 3 (NRG3) as a susceptibility gene in a schizophrenia subtype with florid delusions and relatively spared cognition

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Neural recognition molecule NB-2 of the contactin/F3 subgroup in rat: Specificity in neurite outgrowth-promoting activity and restricted expression in the brain regions.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

The "institutional colon": a frequent colonic dysmotility in psychiatric and neurologic disease.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349728

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

29 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/22589734

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Further evidence for association between ErbB4 and schizophrenia and influence on cognitive intermediate phenotypes in healthy controls

1 reference

https://pubmed.ncbi.nlm.nih.gov/22589734

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A Novel Missense Mutation in the Transmembrane Domain of Neuregulin 1 is Associated with Schizophrenia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22589734

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1002687

0 references

Fatcat ID

release_ggsjskpdanfsjbhl7lnj3q5inu

0 references

PMC publication ID

3349728

0 references