Lista de obras - Tu Nguyen-Dumont - Dominio Público Uruguay

A high-plex PCR approach for massively parallel sequencing.

artículo científico

Abridged adapter primers increase the target scope of Hi-Plex

artículo científico publicado en 2015

Analytical validation of an error-corrected ultra-sensitive ctDNA next-generation sequencing assay

artículo científico publicado en 2020

Annokey: an annotation tool based on key term search of the NCBI Entrez Gene database.

artículo científico publicado en 2014

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

artículo científico publicado en 2022

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

artículo científico publicado en 2013

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

artículo científico publicado en 2019

Cross-platform compatibility of Hi-Plex, a streamlined approach for targeted massively parallel sequencing.

artículo científico publicado en 2013

Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis

artículo científico publicado en 2009

Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2.

artículo científico publicado en 2011

Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus

artículo científico publicado en 2009

Early exploration of two candidate breast cancer susceptibility genes identified by whole-exome sequencing.

artículo científico publicado en 2012

Erratum: Publisher Correction: Homologous recombination DNA repair defects in PALB2-associated breast cancers

scientific article published on 19 November 2019

Evaluation of germline BRCA1 and BRCA2 mutations in a multi-ethnic Asian cohort of ovarian cancer patients

artículo científico publicado en 2015

Expanded genetic analysis of a PALB2 c.3113G>A mutation carrying multiple-case breast cancer family via exome sequencing

artículo científico publicado en 2012

FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets

artículo científico publicado en 2013

Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?

scientific article published on 10 August 2020

Hi-Plex for Simple, Accurate, and Cost-Effective Amplicon-based Targeted DNA Sequencing

artículo científico publicado en 2018

Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2

artículo científico publicado en 2013

Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots

artículo científico publicado en 2014

Hi-Plex2: a simple and robust approach to targeted sequencing-based genetic screening

scientific article published on 03 July 2019

Homologous recombination DNA repair defects in PALB2-associated breast cancers

scientific article published on 08 August 2019

Interpretation of genomic variation and disease association: the great missense mutation challenge!

artículo científico publicado en 2015

Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?

artículo científico publicado en 2018

Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer

artículo científico publicado en 2020

Multigene testing of moderate-risk genes: be mindful of the missense

artículo científico publicado en 2016

Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study.

artículo científico publicado en 2017

PALB2: research reaching to clinical outcomes for women with breast cancer

artículo científico publicado en 2016

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

artículo científico publicado en 2013

ROVER variant caller: read-pair overlap considerate variant-calling software applied to PCR-based massively parallel sequencing datasets.

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Rare mutations in XRCC2 increase the risk of breast cancer

artículo científico publicado en 2012

Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine

artículo científico publicado en 2018

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

scientific article published on 01 November 2019

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

scientific article published on 26 January 2020

Tumour morphology predicts PALB2 germline mutation status

artículo científico publicado en 2013

UNDR ROVER - a fast and accurate variant caller for targeted DNA sequencing

artículo científico publicado en 2016

Lista de obras de Tu Nguyen-Dumont

A high-plex PCR approach for massively parallel sequencing.

Abridged adapter primers increase the target scope of Hi-Plex

Analytical validation of an error-corrected ultra-sensitive ctDNA next-generation sequencing assay

Annokey: an annotation tool based on key term search of the NCBI Entrez Gene database.

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Cross-platform compatibility of Hi-Plex, a streamlined approach for targeted massively parallel sequencing.

Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis

Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2.

Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus

Early exploration of two candidate breast cancer susceptibility genes identified by whole-exome sequencing.

Erratum: Publisher Correction: Homologous recombination DNA repair defects in PALB2-associated breast cancers

Evaluation of germline BRCA1 and BRCA2 mutations in a multi-ethnic Asian cohort of ovarian cancer patients

Expanded genetic analysis of a PALB2 c.3113G>A mutation carrying multiple-case breast cancer family via exome sequencing

FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets

Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?

Hi-Plex for Simple, Accurate, and Cost-Effective Amplicon-based Targeted DNA Sequencing

Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2

Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots

Hi-Plex2: a simple and robust approach to targeted sequencing-based genetic screening

Homologous recombination DNA repair defects in PALB2-associated breast cancers

Interpretation of genomic variation and disease association: the great missense mutation challenge!

Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?

Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer

Multigene testing of moderate-risk genes: be mindful of the missense

Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study.

PALB2: research reaching to clinical outcomes for women with breast cancer

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

ROVER variant caller: read-pair overlap considerate variant-calling software applied to PCR-based massively parallel sequencing datasets.

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

Rare mutations in XRCC2 increase the risk of breast cancer

Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

Tumour morphology predicts PALB2 germline mutation status

UNDR ROVER - a fast and accurate variant caller for targeted DNA sequencing