Lista de obras - Daniel J Park - Dominio Público Uruguay

19p13.1 is a triple-negative-specific breast cancer susceptibility locus

artículo científico publicado en 2012

3' RACE walking along a large cDNA employing tiered suppression PCR.

artículo científico publicado en 2003

A PALB2 mutation associated with high risk of breast cancer

artículo científico publicado en 2010

A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.

artículo científico publicado en 2014

A high-plex PCR approach for massively parallel sequencing.

artículo científico

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

artículo científico publicado en 2012

A new 5' terminal murine GAPDH exon identified using 5'RACE LaNe.

artículo científico publicado en 2005

Abridged adapter primers increase the target scope of Hi-Plex

artículo científico publicado en 2015

Activities of Bacillus thuringiensis insecticidal crystal proteins Cyt1Aa and Cyt2Aa against three species of sheep blowfly

artículo científico publicado en 1998

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Characterisation of the marsupial-specific ATRY gene: implications for the evolution of male-specific function.

artículo científico publicado en 2005

Comparative analysis of ATRX, a chromatin remodeling protein

artículo científico publicado en 2004

Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

artículo científico publicado en 2012

Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

artículo científico publicado en 2012

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

artículo científico publicado en 2013

Enhanced solid phase PCR for increased loading of amplicon onto solid support.

artículo científico publicado en 2011

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

artículo científico publicado en 2015

FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancer

artículo científico publicado en 2011

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

Fine resolution mapping of double-strand break sites for human ribosomal DNA units

artículo científico publicado en 2016

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

Genome-wide association analysis identifies three new breast cancer susceptibility loci

artículo científico publicado en 2012

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

artículo científico publicado en 2013

Genome-wide measures of DNA methylation in peripheral blood and the risk of urothelial cell carcinoma: a prospective nested case-control study

artículo científico publicado en 2016

Global measures of peripheral blood-derived DNA methylation as a risk factor in the development of mature B-cell neoplasms

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry

artículo científico publicado en 2015

No evidence of MMTV-like env sequences in specimens from the Australian Breast Cancer Family Study

artículo científico publicado en 2010

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

Single nucleotide-level mapping of DNA double-strand breaks in human HEK293T cells

artículo científico publicado en 2016

The use of DNA from archival dried blood spots with the Infinium HumanMethylation450 array

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Universal fast walking applied to cDNA.

artículo científico publicado en 2004

Use of a Novel Nonparametric Version of DEPTH to Identify Genomic Regions Associated with Prostate Cancer Risk

artículo científico publicado en 2016

Use of a phage-based assay for phenotypic detection of mycobacteria directly from sputum.

artículo científico publicado en 2003

Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics

artículo científico publicado en 2017

Lista de obras de Daniel J Park

19p13.1 is a triple-negative-specific breast cancer susceptibility locus

3' RACE walking along a large cDNA employing tiered suppression PCR.

A PALB2 mutation associated with high risk of breast cancer

A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.

A high-plex PCR approach for massively parallel sequencing.

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

A new 5' terminal murine GAPDH exon identified using 5'RACE LaNe.

Abridged adapter primers increase the target scope of Hi-Plex

Activities of Bacillus thuringiensis insecticidal crystal proteins Cyt1Aa and Cyt2Aa against three species of sheep blowfly

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

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

Characterisation of the marsupial-specific ATRY gene: implications for the evolution of male-specific function.

Comparative analysis of ATRX, a chromatin remodeling protein

Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

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

Enhanced solid phase PCR for increased loading of amplicon onto solid support.

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

FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancer

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

Fine resolution mapping of double-strand break sites for human ribosomal DNA units

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

Genome-wide association analysis identifies three new breast cancer susceptibility loci

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

Genome-wide measures of DNA methylation in peripheral blood and the risk of urothelial cell carcinoma: a prospective nested case-control study

Global measures of peripheral blood-derived DNA methylation as a risk factor in the development of mature B-cell neoplasms

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

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

Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry

No evidence of MMTV-like env sequences in specimens from the Australian Breast Cancer Family Study

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

Single nucleotide-level mapping of DNA double-strand breaks in human HEK293T cells

The use of DNA from archival dried blood spots with the Infinium HumanMethylation450 array

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

Universal fast walking applied to cDNA.

Use of a Novel Nonparametric Version of DEPTH to Identify Genomic Regions Associated with Prostate Cancer Risk

Use of a phage-based assay for phenotypic detection of mycobacteria directly from sputum.

Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics