(Q26994958)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22962312%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

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

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22962312%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22962312%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Manuel Corpas

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22962312%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Andrew P Bevan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22962312%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Caroline F. Wright

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22962312%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

9

Helen V Firth

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22962312%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

8

Matthew E Hurles

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22962312%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

7

Nigel P Carter

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22962312%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

author name string

Eugene Bragin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22962312%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Eleni A Chatzimichali

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22962312%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

language of work or name

1 reference

8 September 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22962312%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

published in

Human Molecular Genetics

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22962312%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

volume

21

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22962312%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

issue

R1

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22962312%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

page(s)

R37-44

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22962312%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

https://www.ncbi.nlm.nih.gov/pubmed/22962312

Key principles and clinical applications of "next-generation" DNA sequencing

16 May 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Disease gene identification strategies for exome sequencing

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

The Pfam protein families database

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

The IntAct molecular interaction database in 2012

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

InterPro in 2011: new developments in the family and domain prediction database

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

A map of human genome variation from population-scale sequencing

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Sharing health data: good intentions are not enough

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Exome sequencing identifies the cause of a mendelian disorder

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

The worldwide Protein Data Bank (wwPDB): ensuring a single, uniform archive of PDB data

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Global variation in copy number in the human genome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Detection of large-scale variation in the human genome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Large-scale copy number polymorphism in the human genome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Bioinformatics for personal genome interpretation

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Data sharing: reaching consensus

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Collection of variation causing disease--the Human Variome Project

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Integrating common and rare genetic variation in diverse human populations

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Exome sequencing as a tool for Mendelian disease gene discovery

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

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=3459644

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=3459644

Cantú syndrome is caused by mutations in ABCC9.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Exome sequencing: dual role as a discovery and diagnostic tool

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Finding disease variants in Mendelian disorders by using sequence data: methods and applications

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Characterising and predicting haploinsufficiency in the human genome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

The human phenotype ontology.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Lessons learnt from large-scale exon re-sequencing of the X chromosome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Genomic microarrays in clinical diagnosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

A survey of homozygous deletions in human cancer genomes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

Visual mapping by high resolution FISH.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

The London Dysmorphology Database

28 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459644

31 May 2018

https://api.crossref.org/works/10.1093%2FHMG%2FDDS362

21 January 2018

Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS362

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS362

Array comparative genomic hybridization in global developmental delay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS362

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%2FHMG%2FDDS362

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS362

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%2FHMG%2FDDS362

Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS362

Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS362

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS362

The Deciphering Developmental Disorders (DDD) study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS362

The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS362

Sharing data for public health: where is the vision?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS362

Protein sequence databases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS362

DNA sequence-based phenotypic association analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS362

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS362

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/22962312

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDS362

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22962312%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22962312%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

PubMed publication ID

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22962312%20AND%20SRC:MED&resulttype=core&format=json