Identification of clinically actionable variants from genome sequencing of families with congenital heart disease (Q57180807)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

title

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

main subject

whole genome sequencing

1 reference

inferred from title

congenital heart disease

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Eddie Ip

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Justin Szot

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Jacob E Munro

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Gillian M Blue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Hartmut Cuny

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Annabelle Enriquez

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Joshua Ho

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

David Winlaw

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

21

Sally L Dunwoodie

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

author name string

Katrina Harrison

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Michael Troup

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

David T Humphreys

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Meredith Wilson

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Richard P Harvey

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Gary F Sholler

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Robert M Graham

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Edwin P Kirk

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Nicholas Pachter

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Gavin Chapman

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Eleni Giannoulatou

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

language of work or name

English

0 references

publication date

8 October 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

page(s)

1111-1120

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis

26 April 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Lifetime prevalence of congenital heart disease in the general population from 2000 to 2010.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Exploring single-sample SNP and INDEL calling with whole-genome de novo assembly

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

1 reference

7 January 2021

DELLY: structural variant discovery by integrated paired-end and split-read analysis

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

SVPV: a structural variant prediction viewer for paired-end sequencing datasets

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Disruption of the SEMA3D gene in a patient with congenital heart defects.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Semaphorin 3d signaling defects are associated with anomalous pulmonary venous connections

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Mutations in DCHS1 cause mitral valve prolapse

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

The phenotype of recurrent 10q22q23 deletions and duplications

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

De novo mutations in regulatory elements in neurodevelopmental disorders.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0296-X

7 January 2021

10.1038/S41436-018-0296-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30293987%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

1 reference