(Q41985080)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18951461%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18951461%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18951461%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Alun Thomas

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18951461%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

3

David E Goldgar

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18951461%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

author name string

Sean V Tavtigian

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18951461%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

publication date

1 November 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18951461%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18951461%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

volume

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18951461%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18951461%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

page(s)

1342-1354

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18951461%20AND%20SRC:MED&resulttype=core&format=json

In silico analysis of missense substitutions using sequence-alignment based methods

25 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

Functional impact of missense variants in BRCA1 predicted by supervised learning

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

M-Coffee: combining multiple sequence alignment methods with T-Coffee

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

Loss of protein structure stability as a major causative factor in monogenic disease.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

SIFT: Predicting amino acid changes that affect protein function

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

Predicting deleterious amino acid substitutions

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

Prediction of deleterious human alleles

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

Likelihood ratio tests for detecting positive selection and application to primate lysozyme evolution

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

An improved method for determining codon variability in a gene and its application to the rate of fixation of mutations in evolution

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

Amino acid difference formula to help explain protein evolution

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

Use of estimated evolutionary strength at the codon level improves the prediction of disease-related protein mutations in humans

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

A nucleotide substitution model with nearest-neighbour interactions

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

Clinical Classification ofBRCA1andBRCA2DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab Investigators

3 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

2 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

2 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3938023

MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population

2 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18951461

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Sequence-based prediction of pathological mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18951461

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.20896

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18951461%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18951461%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

PubMed publication ID

18951461

1 reference