(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

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

1 June 2020

Jozef Gécz

35

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

9

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

Lisenka Vissers

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

Paul J. Lockhart

19

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

20

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

21

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

Rosa Pettinato

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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

Reijnders MRF

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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

Hilde Peeters

28

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

29

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

18

1 reference

ORCID Public Data File 2021

Heather C. Mefford

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Heather C Mefford

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

38

Evan E Eichler

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

Bradley P Coe

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

2

Kali Witherspoon

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

8

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

5

object named as

Anneke T Vulto-van Silfhout

1 reference

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

Janneke H M Schuurs-Hoeijmakers

1 June 2020

11

object named as

Janneke H Schuurs-Hoeijmakers

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

6

Paolo Bosco

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

15

Gemma L Carvill

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

14

Nik Krumm

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

4

Bregje W M van Bon

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

31

Jayne Y Hehir-Kwa

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

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

13

Rolph Pfundt

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

34

Eric Haan

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

7

Kathryn L Friend

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

24

Raymond Tervo

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

36

Bert B A de Vries

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

author name string

Alex Hoischen

12

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

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

22

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

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

De novo mutations in schizophrenia implicate synaptic networks

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

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

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

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

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 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

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

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

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

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

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

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

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

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