(Q35648306)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26023681%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

title

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26023681%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

main subject

whole genome sequencing

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26023681%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Theodora S. Ross

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26023681%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

author name string

Samantha B Foley

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26023681%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Jonathan J Rios

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26023681%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Victoria E Mgbemena

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26023681%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Linda S Robinson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26023681%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Heather L Hampel

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26023681%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Amanda E Toland

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26023681%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

publication date

1 January 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26023681%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26023681%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

volume

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26023681%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26023681%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

page(s)

74-81

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26023681%20AND%20SRC:MED&resulttype=core&format=json

Breast-cancer risk in families with mutations in PALB2

15 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

Diagnostic clinical genome and exome sequencing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

Genome sequencing identifies major causes of severe intellectual disability

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

Analysis of induced pluripotent stem cells from a BRCA1 mutant family

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

First FDA authorization for next-generation sequencer

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

Actionable, pathogenic incidental findings in 1,000 participants' exomes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

Genetic risk factors for pancreatic disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

Whole-genome sequencing for optimized patient management

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

Rubinstein-Taybi syndrome: clinical and molecular overview

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

DLC-1 gene inhibits human breast cancer cell growth and in vivo tumorigenicity

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

Molecular cloning of a candidate tumor suppressor gene, DLC1, from chromosome 3p21.3

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

Use of panel tests in place of single gene tests in the cancer genetics clinic.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

Promoter hypermethylation of DLC-1, a candidate tumor suppressor gene, in several common human cancers

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

Multiplex Genetic Testing for Cancer Susceptibility: Out on the High Wire Without a Net?

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444225

Clinical decisions. Screening an asymptomatic person for genetic risk

7 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26023681

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the SPINK1 gene in Mexican pediatric patients with acute and recurrent pancreatitis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26023681

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.EBIOM.2014.12.003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26023681%20AND%20SRC:MED&resulttype=core&format=json

release_tlmaoqosmjfsbadhwuvevzxffa

15 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/tlmaoqosmjfsbadhwuvevzxffa

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26023681%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

PubMed publication ID

26023681

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26023681%20AND%20SRC:MED&resulttype=core&format=json