Refining analyses of copy number variation identifies specific genes associated with developmental delay (Q34254472)

31 July 2017

Refining analyses of copy number variation identifies specific genes associated with developmental delay (English)

1 reference

31 July 2017

32

1 reference

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Jozef Gécz

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1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25217958%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Jill A Rosenfeld

3

1 reference

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1 June 2020

Serafino Buono

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1 reference

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1 June 2020

Lisenka Vissers

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1 reference

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1 June 2020

Paul J. Lockhart

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1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25217958%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Ingrid Scheffer

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1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25217958%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Antonino Alberti

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1 reference

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1 June 2020

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1 reference

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Reijnders MRF

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1 reference

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1 June 2020

Hilde Peeters

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1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25217958%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Brian J O'Roak

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1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25217958%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Marco Fichera

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25217958%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Corrado Romano

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25217958%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Natasha Brown

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1 reference

ORCID Public Data File 2021

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1 reference

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1 June 2020

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Evan E Eichler

1 reference

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1 June 2020

1

Bradley P Coe

1 reference

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1 June 2020

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Kali Witherspoon

1 reference

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1 June 2020

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Carl Baker

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25217958%20AND%20SRC:MED&resulttype=core&format=json

Anneke T Vulto-van Silfhout

1 June 2020

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Janneke H M Schuurs-Hoeijmakers

1 June 2020

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1 June 2020

6

Paolo Bosco

1 reference

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1 June 2020

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Gemma L Carvill

1 reference

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1 June 2020

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Nik Krumm

1 reference

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1 June 2020

4

Bregje W M van Bon

1 reference

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1 June 2020

31

Jayne Y Hehir-Kwa

1 reference

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1 June 2020

25

Nicole de Leeuw

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25217958%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

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Rolph Pfundt

1 reference

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1 June 2020

34

Eric Haan

1 reference

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1 June 2020

7

Kathryn L Friend

1 reference

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1 June 2020

24

Raymond Tervo

1 reference

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1 June 2020

36

Bert B A de Vries

1 reference

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1 June 2020

author name string

Alex Hoischen

12

1 reference

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1 June 2020

Deana Li

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25217958%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

David Amaral

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25217958%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Marie Shaw

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1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25217958%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Beth S Torchia

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25217958%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

language of work or name

English

0 references

publication date

14 September 2014

1 reference

31 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25217958%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25217958%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25217958%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

page(s)

1063-1071

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25217958%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ng.3092

1 June 2020

exact match

0 references

cites work

ZMYND11 links histone H3.3K36me3 to transcription elongation and tumour suppression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders

6 July 2018

1 reference

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De novo mutations in schizophrenia implicate synaptic networks

6 July 2018

1 reference

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CNVs conferring risk of autism or schizophrenia affect cognition in controls

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Further delineation of the SATB2 phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

A rare 3q13.31 microdeletion including GAP43 and LSAMP genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Clinical significance of de novo and inherited copy-number variation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

De novo mutations in epileptic encephalopathies

6 July 2018

1 reference

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Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network

6 July 2018

1 reference

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Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Somatic SETBP1 mutations in myeloid malignancies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

De novo mutations in histone-modifying genes in congenital heart disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Structural and Functional Analysis of the DEAF-1 and BS69 MYND Domains

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Estimates of penetrance for recurrent pathogenic copy-number variations

6 July 2018

1 reference

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Recurrent SETBP1 mutations in atypical chronic myeloid leukemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

De Novo Gene Disruptions in Children on the Autistic Spectrum

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Patterns and rates of exonic de novo mutations in autism spectrum disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

6 July 2018

1 reference

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An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

6 July 2018

1 reference

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A copy number variation morbidity map of developmental delay

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

The phenotype of recurrent 10q22q23 deletions and duplications

6 July 2018

1 reference

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Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

The Simons Simplex Collection: a resource for identification of autism genetic risk factors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

BS69 undergoes SUMO modification and plays an inhibitory role in muscle and neuronal differentiation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Segmental duplications mediate novel, clinically relevant chromosome rearrangements

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

A catalog of SCN1A variants

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Segmental duplications and copy-number variation in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

The conserved Mynd domain of BS69 binds cellular and oncoviral proteins through a common PXLXP motif

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

PTEN mutation in a family with Cowden syndrome and autism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

The adenovirus E1A binding protein BS69 is a corepressor of transcription through recruitment of N-CoR

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Diagnostic exome sequencing in persons with severe intellectual disability

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4177294

Investigation of NRXN1 deletions: clinical and molecular characterization

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25217958

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

12p13 rearrangements: 6 Mb deletion responsible for ID/MCA and reciprocal duplication without clinical responsibility

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25217958

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.3092

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25217958%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25217958%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25217958%20AND%20SRC:MED&resulttype=core&format=json