Lista de obras -

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

artículo científico publicado en 2011

A quantitative model to predict pathogenicity of missense variants in the TP53 gene

artículo científico publicado en 2019

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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.

artículo científico publicado en 2014

Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer

scientific article published on 17 August 2019

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

scientific article published on 23 March 2016

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

artículo científico publicado en 2010

ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

artículo científico publicado en 2011

Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer

artículo científico publicado en 2006

FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor

artículo científico publicado en 2020

Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines

artículo científico publicado en 2020

Functional impact of missense variants in BRCA1 predicted by supervised learning

artículo científico publicado en 2007

Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants

scientific article published on 05 June 2018

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

artículo científico publicado en 2004

Is BRCA2 c.9079 G > A a predisposing variant for early onset breast cancer?

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

artículo científico publicado en 2019

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

scientific article published on 26 February 2016

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

artículo científico publicado en 2016

Pancreatic cancer as a sentinel for hereditary cancer predisposition.

artículo científico publicado en 2018

Partnering in oncogenetic research--the INHERIT BRCAs experience: opportunities and challenges

artículo científico publicado en 2006

Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach

artículo científico publicado en 2008

Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers

artículo científico publicado en 2014

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

artículo científico publicado en 2011

Whole-Genome Shotgun Assembly and Analysis of the Genome of Fugu rubripes

artículo científico publicado en 2002

Lista de obras de

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

A quantitative model to predict pathogenicity of missense variants in the TP53 gene

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

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

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.

Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

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

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer

FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor

Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines

Functional impact of missense variants in BRCA1 predicted by supervised learning

Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants

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

Is BRCA2 c.9079 G > A a predisposing variant for early onset breast cancer?

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

Pancreatic cancer as a sentinel for hereditary cancer predisposition.

Partnering in oncogenetic research--the INHERIT BRCAs experience: opportunities and challenges

Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach

Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

Whole-Genome Shotgun Assembly and Analysis of the Genome of Fugu rubripes