(Q38637888)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28781887%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

title

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28781887%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28781887%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Marcelo A Carvalho

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28781887%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Alvaro Monteiro

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28781887%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

8

Fergus J Couch

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28781887%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

7

David E Goldgar

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28781887%20AND%20SRC:MED&resulttype=core&format=json

Edwin Severin Iversen, Jr.

26 March 2020

10

object named as

Edwin S Iversen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28781887%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

4

Ankita Jhuraney

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28781887%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Giuliana de Gregoriis

5

object named as

Giuliana De-Gregoriis

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28781887%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

author name string

Nicholas T Woods

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28781887%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Rebekah Baskin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28781887%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Tereza Vaclova

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28781887%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

publication date

2 March 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28781887%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28781887%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

volume

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28781887%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

26 March 2020

copyright license

start time

2 March 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

BRCA1 Circos: a visualisation resource for functional analysis of missense variants

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Breast-cancer risk in families with mutations in PALB2

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Male fertility defect associated with disrupted BRCA1-PALB2 interaction in mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Guidelines for investigating causality of sequence variants in human disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Charting the landscape of tandem BRCT domain-mediated protein interactions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Dual recognition of phosphoserine and phosphotyrosine in histone variant H2A.X by DNA damage response protein MCPH1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

A guide for functional analysis of BRCA1 variants of uncertain significance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Making sense of cancer genomic data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

A method and server for predicting damaging missense mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

14-3-3 proteins, FHA domains and BRCT domains in the DNA damage response

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

PALB2 is an integral component of the BRCA complex required for homologous recombination repair

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Activation of the cellular DNA damage response in the absence of DNA lesions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

MDC1 directly binds phosphorylated histone H2AX to regulate cellular responses to DNA double-strand breaks

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Classification of BRCA1 missense variants of unknown clinical significance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

On the allelic spectrum of human disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Predicting deleterious amino acid substitutions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Predicting coiled coils from protein sequences

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

MutationTaster2: mutation prediction for the deep-sequencing age.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

A high-throughput functional complementation assay for classification of BRCA1 missense variants

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

Functional genetic tests of DNA mismatch repair protein activity in Saccharomyces cerevisiae

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539989

A functional assay for mutations in tumor suppressor genes caused by mismatch repair deficiency

31 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNPJGENMED.2016.1

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NPJGENMED.2016.1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28781887%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

26 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28781887%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

PubMed publication ID

28781887

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28781887%20AND%20SRC:MED&resulttype=core&format=json