(Q24567711)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24150940%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24150940%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

0 references

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24150940%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Andrew P Bevan

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24150940%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Jawahar Swaminathan

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24150940%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

5

Helen V Firth

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24150940%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

4

Matthew E Hurles

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24150940%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

author name string

Eugene Bragin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24150940%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Eleni A Chatzimichali

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24150940%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

language of work or name

English

0 references

publication date

22 October 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24150940%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

published in

Nucleic Acids Research

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24150940%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

volume

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24150940%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

page(s)

D993-D1000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24150940%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

issue

Database issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24150940%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 3.0 Unported

28 February 2020

copyright license

start time

4 October 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

The Sequence Ontology: a tool for the unification of genome annotations

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

A method and server for predicting damaging missense mutations

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

The UCSC genome browser and associated tools

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

LOVD v.2.0: the next generation in gene variant databases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

Characterising and predicting haploinsufficiency in the human genome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

Massively parallel sequencing and rare 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=3965078

The human phenotype ontology.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965078

The Deciphering Developmental Disorders (DDD) study.

30 May 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2FGKT937

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2FGKT937

Curating gene variant databases (LSDBs): toward a universal standard

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2FGKT937

Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2FGKT937

Characterization of copy number-stable regions in the human genome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2FGKT937

Update on the London Dysmorphology Database

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24150940

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24150940

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/NAR/GKT937

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24150940%20AND%20SRC:MED&resulttype=core&format=json

journals/nar/BraginCWHFBS14

28 February 2020

DBLP publication ID

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24150940%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24150940%20AND%20SRC:MED&resulttype=core&format=json