(Q34215686)

31 July 2017

Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment (English)

1 reference

specific language impairment

31 July 2017

1 reference

1 reference

Clyde Francks

3

0 references

Simon Fisher

Simon E Fisher

19

0 references

Nuala H Simpson

Nuala H Simpson

2

0 references

Gillian Baird

4

Gillian Baird

1 reference

ORCID Public Data File 2021

31 July 2017

1 reference

Alistair T Pagnamenta

16

Alistair T Pagnamenta

1 reference

31 July 2017

Fabiola Ceroni

1

1 reference

31 July 2017

Gina Conti-Ramsden

5

1 reference

31 July 2017

Ann Clark

6

1 reference

31 July 2017

Patrick F Bolton

7

1 reference

31 July 2017

Elizabeth R Hennessy

8

1 reference

31 July 2017

Peter Donnelly

9

1 reference

31 July 2017

David R Bentley

10

1 reference

31 July 2017

Hilary Martin

11

1 reference

31 July 2017

IMGSAC

12

1 reference

31 July 2017

SLI Consortium

13

1 reference

31 July 2017

WGS500 Consortium

14

1 reference

31 July 2017

Jeremy Parr

15

1 reference

31 July 2017

Elena Maestrini

17

1 reference

31 July 2017

Elena Bacchelli

18

1 reference

31 July 2017

Dianne F Newbury

20

1 reference

31 July 2017

language of work or name

1 reference

12 February 2014

1 reference

European Journal of Human Genetics

31 July 2017

1 reference

31 July 2017

22

1 reference

31 July 2017

10

1 reference

31 July 2017

1165-1171

1 reference

Creative Commons Attribution 3.0 Unported

31 July 2017

start time

12 February 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/ejhg.2014.4

0 references

cites work

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

The genetic variability and commonality of neurodevelopmental disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

CNVs: harbingers of a rare variant revolution in psychiatric genetics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Spatio-temporal transcriptome of the human brain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

A novel zinc finger protein Zfp277 mediates transcriptional repression of the Ink4a/arf locus through polycomb repressive complex 1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Microduplications of 16p11.2 are associated with schizophrenia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Language and reading abilities of children with autism spectrum disorders and specific language impairment and their first-degree relatives

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

A functional genetic link between distinct developmental language disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Copy-number variations associated with neuropsychiatric conditions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Further defining the language impairment of autism: is there a specific language impairment subtype?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

The broader language phenotype of autism: a comparison with specific language impairment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

The prevalence of autistic spectrum disorders in adolescents with a history of specific language impairment (SLI).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

An Investigation of Language Impairment in Autism: Implications for Genetic Subgroups

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Bmi-1 promotes neural stem cell self-renewal and neural development but not mouse growth and survival by repressing the p16Ink4a and p19Arf senescence pathways

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Detection of large-scale variation in the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Highly significant linkage to the SLI1 locus in an expanded sample of individuals affected by specific language impairment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Bmi-1 dependence distinguishes neural stem cell self-renewal from progenitor proliferation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

A genomewide scan identifies two novel loci involved in specific language impairment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Prevalence and natural history of primary speech and language delay: findings from a systematic review of the literature

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Chromosomal mapping and genomic organization of an evolutionarily conserved zinc finger gene ZNF277

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

An autosomal genomic screen for autism. Collaborative linkage study of autism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Genetics of spoken language disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

Autism and developmental receptive language disorder--a follow-up comparison in early adult life. II: Social, behavioural, and psychiatric outcomes.

5 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.4

Autism and developmental receptive language disorder--a comparative follow-up in early adult life. I: Cognitive and language outcomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.4

Sentence repetition in adolescents with specific language impairments and autism: an investigation of complex syntax.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.4

Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.4

Genomic screen and follow-up analysis for autistic disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.4

Evidence for multiple loci from a genome scan of autism kindreds.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.4

Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.4

Application of Nexus copy number software for CNV detection and analysis

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169542

28 October 2018

Identifiers

DOI

10.1038/EJHG.2014.4

1 reference

Dimensions Publication ID

31 July 2017

1022299237

0 references

Fatcat ID

release_rs6ytssy35ga5pjjnlfkwij7ra

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/rs6ytssy35ga5pjjnlfkwij7ra

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

4169542

1 reference

31 July 2017

1 reference