Lista de obras - Vijai Joseph - Dominio Público Uruguay

A Germline Variant on Chromosome 4q31.1 Associates with Susceptibility to Developing Colon Cancer Metastasis

artículo científico publicado en 2016

A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer

artículo científico publicado en 2016

A genome-wide association study of marginal zone lymphoma shows association to the HLA region

artículo científico publicado en 2015

A locus for juvenile myoclonic epilepsy maps to 2q33-q36.

artículo científico publicado en 2010

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

artículo científico publicado en 2010

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

artículo científico publicado en 2012

A rare TP53 mutation predominant in Ashkenazi Jews confers risk of multiple cancers

artículo científico publicado en 2020

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome

artículo científico publicado en 2013

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

artículo científico publicado en 2013

Abstract 2378: Harmonization of next generation sequencing data within consortia for gene discovery in familial breast cancer

article

Abstract 3282: Determination of cancer susceptibility in probands with breast and ovarian cancer

article published in 2014

Abstract 5071: A genome-wide association study suggests evidence of variants at 6p21.32 associated with marginal zone lymphoma

Abstract 5072: Meta-analysis of genome-wide association studies identifies novel susceptibility loci for follicular lymphoma

Abstract LB-272: Genome-wide association study identifies multiple susceptibility loci for diffuse large B-cell lymphoma

An analysis of the association between prostate cancer risk loci, PSA levels, disease aggressiveness and disease-specific mortality

artículo científico publicado en 2015

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

artículo científico publicado en 2015

Analysis of heritability and shared heritability based on genome-wide association studies for thirteen cancer types

artículo científico publicado en 2015

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

artículo científico publicado en 2015

Assessment of SLX4 Mutations in Hereditary Breast Cancers

artículo científico publicado en 2013

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

artículo científico publicado en 2019

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

artículo científico publicado en 2016

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

artículo científico publicado en 2015

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

artículo científico publicado en 2011

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Cancer genomics and inherited risk

artículo científico publicado en 2014

Cancer susceptibility mutations in individuals with breast and ovarian cancer using next-generation sequencing

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes

scientific article published on 04 February 2019

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

artículo científico publicado en 2020

Clinical Evaluation of Cisplatin Sensitivity of Germline Polymorphisms in Neoadjuvant Chemotherapy for Urothelial Cancer

artículo científico publicado en 2016

Clinical characteristics of a South Indian cohort of juvenile myoclonic epilepsy probands

artículo científico publicado en 2003

Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes

artículo científico publicado en 2015

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

artículo científico publicado en 2010

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

artículo científico publicado en 2012

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

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: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

scholarly article by Mia M Gaudet published in November 2010

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

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Discovery of common and rare genetic risk variants for colorectal cancer

artículo científico publicado en 2018

Discriminatory accuracy and potential clinical utility of genomic profiling for breast cancer risk in BRCA-negative women

artículo científico publicado en 2010

Erratum: Author Correction: The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk

artículo científico publicado en 2017

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer

artículo científico publicado en 2016

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2017

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

artículo científico publicado en 2015

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2016

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

artículo científico publicado en 2020

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

artículo científico publicado en 2016

GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures.

artículo científico publicado en 2013

Genetic architecture of prostate cancer in the Ashkenazi Jewish population

artículo científico publicado en 2011

Genetic association analysis of ATP binding cassette protein family reveals a novel association of ABCB1 genetic variants with epilepsy risk, but not with drug-resistance

artículo científico publicado en 2014

Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population

artículo científico publicado en 2003

Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes

artículo científico publicado en 2019

Genetic susceptibility to diffuse large B-cell lymphoma in a pooled study of three Eastern Asian populations

artículo científico publicado en 2015

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2010

Genetic variation in DNA repair pathways and risk of non-Hodgkin's lymphoma

artículo científico publicado en 2014

Genetically Determined Height and Risk of Non-hodgkin Lymphoma

artículo científico publicado en 2019

Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypes

artículo científico publicado en 2016

Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant

article

Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

artículo científico publicado en 2017

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

article

Genome-wide association studies of cancer predisposition

artículo científico publicado en 2010

Genome-wide association study identifies five susceptibility loci for follicular lymphoma outside the HLA region

artículo científico publicado en 2014

Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia

artículo científico publicado en 2013

Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma

artículo científico publicado en 2014

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

artículo científico publicado en 2013

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia

artículo científico publicado en 2015

HLA class I and II diversity contributes to the etiologic heterogeneity of non-Hodgkin lymphoma subtypes

artículo científico publicado en 2018

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2011

High-depth whole genome sequencing of a large population-specific reference panel: Enhancing sensitivity, accuracy, and imputation

High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.

artículo científico publicado en 2018

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

artículo científico publicado en 2017

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

artículo científico publicado en 2013

Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry

artículo científico publicado en 2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

artículo científico publicado en 2016

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

artículo científico publicado en 2015

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

artículo científico publicado en 2017

Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer

artículo científico publicado en 2016

Inherited Germline Cancer Susceptibility Gene Variants in Individuals with Non–Muscle-Invasive Bladder Cancer

artículo científico publicado en 2022

Inherited mutations in breast cancer patients with and without multiple primary cancers

Integrative clinical genomics of metastatic cancer

artículo científico publicado en 2017

Lipid Trait Variants and the Risk of Non-Hodgkin Lymphoma Subtypes: A Mendelian Randomization Study

artículo científico publicado en 2020

Lupus-related single nucleotide polymorphisms and risk of diffuse large B-cell lymphoma

artículo científico publicado en 2017

Major vault protein (MVP) gene polymorphisms and drug resistance in mesial temporal lobe epilepsy with hippocampal sclerosis ⬇️

artículo científico publicado el 7 de junio de 2013

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

artículo científico publicado en 2016

Mendelian randomisation study of smoking exposure in relation to breast cancer risk

artículo científico publicado en 2021

Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia

artículo científico publicado en 2016

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

artículo científico publicado en 2018

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

artículo científico publicado en 2015

Novel Common Genetic Susceptibility Loci for Colorectal Cancer

artículo científico publicado en 2019

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

artículo científico publicado en 2019

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

artículo científico publicado en 2020

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

artículo científico publicado en 2017

Prediction of breast cancer risk based on profiling with common genetic variants

artículo científico publicado en 2015

Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer

artículo científico publicado en 2011

Prevalence of HOXB13 mutation in a population of Ashkenazi Jewish men treated for prostate cancer

scientific article published on December 2013

Rare de novo germline copy-number variation in testicular cancer

artículo científico publicado en 2012

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

artículo científico publicado en 2014

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

artículo científico publicado en 2014

Susceptibility loci associated with prostate cancer progression and mortality

artículo científico publicado en 2010

Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies

scientific journal article

The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk

artículo científico publicado en 2017

Tissue-Specific Enrichment of Lymphoma Risk Loci in Regulatory Elements

artículo científico publicado en 2015

Toward automation of germline variant curation in clinical cancer genetics

scientific article published on 21 February 2019

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

artículo científico publicado en 2020

Two high-risk susceptibility loci at 6p25.3 and 14q32.13 for Waldenström macroglobulinemia

artículo científico publicado en 2018

Two truncating variants in FANCC and breast cancer risk

artículo científico publicado en 2019

Variants at IRX4 as prostate cancer expression quantitative trait loci

scientific article published on 11 September 2013

Lista de obras de Vijai Joseph

A Germline Variant on Chromosome 4q31.1 Associates with Susceptibility to Developing Colon Cancer Metastasis

A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer

A genome-wide association study of marginal zone lymphoma shows association to the HLA region

A locus for juvenile myoclonic epilepsy maps to 2q33-q36.

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

A rare TP53 mutation predominant in Ashkenazi Jews confers risk of multiple cancers

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

Abstract 2378: Harmonization of next generation sequencing data within consortia for gene discovery in familial breast cancer

Abstract 3282: Determination of cancer susceptibility in probands with breast and ovarian cancer

Abstract 5071: A genome-wide association study suggests evidence of variants at 6p21.32 associated with marginal zone lymphoma

Abstract 5072: Meta-analysis of genome-wide association studies identifies novel susceptibility loci for follicular lymphoma

Abstract LB-272: Genome-wide association study identifies multiple susceptibility loci for diffuse large B-cell lymphoma

An analysis of the association between prostate cancer risk loci, PSA levels, disease aggressiveness and disease-specific mortality

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Analysis of heritability and shared heritability based on genome-wide association studies for thirteen cancer types

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

Assessment of SLX4 Mutations in Hereditary Breast Cancers

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

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

Cancer genomics and inherited risk

Cancer susceptibility mutations in individuals with breast and ovarian cancer using next-generation sequencing

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Clinical Evaluation of Cisplatin Sensitivity of Germline Polymorphisms in Neoadjuvant Chemotherapy for Urothelial Cancer

Clinical characteristics of a South Indian cohort of juvenile myoclonic epilepsy probands

Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

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

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

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

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

Discovery of common and rare genetic risk variants for colorectal cancer

Discriminatory accuracy and potential clinical utility of genomic profiling for breast cancer risk in BRCA-negative women

Erratum: Author Correction: The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures.

Genetic architecture of prostate cancer in the Ashkenazi Jewish population

Genetic association analysis of ATP binding cassette protein family reveals a novel association of ABCB1 genetic variants with epilepsy risk, but not with drug-resistance

Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population

Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes

Genetic susceptibility to diffuse large B-cell lymphoma in a pooled study of three Eastern Asian populations

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

Genetic variation in DNA repair pathways and risk of non-Hodgkin's lymphoma

Genetically Determined Height and Risk of Non-hodgkin Lymphoma

Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypes

Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant

Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Genome-wide association studies of cancer predisposition

Genome-wide association study identifies five susceptibility loci for follicular lymphoma outside the HLA region

Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia

Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia

HLA class I and II diversity contributes to the etiologic heterogeneity of non-Hodgkin lymphoma subtypes

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

High-depth whole genome sequencing of a large population-specific reference panel: Enhancing sensitivity, accuracy, and imputation

High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

Identification of six new susceptibility loci for invasive epithelial ovarian cancer