(Q33737759)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

title

Genomic diagnosis for children with intellectual disability and/or developmental delay (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

disability affecting intellectual abilities

21 March 2020

main subject

disability

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

author name string

Kevin M Bowling

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Michelle L Thompson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Michelle D Amaral

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Candice R Finnila

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Susan M Hiatt

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Krysta L Engel

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Kyle B Brothers

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Kelly M East

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

David E Gray

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Whitley V Kelley

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Neil E Lamb

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Edward J Lose

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Carla A Rich

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Shirley Simmons

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Jana S Whittle

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Benjamin T Weaver

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Amy S Nesmith

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Richard M Myers

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Gregory S Barsh

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

E Martina Bebin

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Gregory M Cooper

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

publication date

30 May 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

page(s)

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

Prevalence and architecture of de novo mutations in developmental disorders

21 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

Analysis of protein-coding genetic variation in 60,706 humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

mTOR signaling pathway genes in focal epilepsies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

Medical genomics: The intricate path from genetic variant identification to clinical interpretation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

ClinVar: public archive of interpretations of clinically relevant variants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

A global reference for human genetic variation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

Rho Kinases in Health and Disease: From Basic Science to Translational Research

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

Mutations in ARID2 are associated with intellectual disabilities.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

A framework for the interpretation of de novo mutation in human disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

A general framework for estimating the relative pathogenicity of human genetic variants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

Genic intolerance to functional variation and the interpretation of personal genomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

De novo mutations in epileptic encephalopathies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

Common genetic variants, acting additively, are a major source of risk for autism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

Using ERDS to infer copy-number variants in high-coverage genomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

ReadDepth: a parallel R package for detecting copy number alterations from short sequencing reads

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

Robust relationship inference in genome-wide association studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

Fast and accurate short read alignment with Burrows-Wheeler transform

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

The NCBI dbGaP database of genotypes and phenotypes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

Trends in the prevalence of developmental disabilities in US children, 1997-2008.

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13073-017-0433-1

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13073-017-0433-1

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13073-017-0433-1

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13073-017-0433-1

The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13073-017-0433-1

Large-scale discovery of novel genetic causes of developmental disorders

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5448144

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28554332

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

KIAA2022 nonsense mutation in a symptomatic female

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28554332

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13073-017-0433-1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

21 March 2020

1 reference

https://scigraph.springernature.com/pub.10.1186/s13073-017-0433-1

9 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28554332%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

PubMed publication ID

28554332

1 reference