Lista de obras - Sofia Khan - Dominio Público Uruguay

A genome wide meta-analysis study for identification of common variation associated with breast cancer prognosis

artículo científico publicado en 2014

A survey of localized sequence rearrangements in human DNA.

artículo científico publicado en 2017

Abstract 3274: SNP-SNP interaction analyses of NQO1 and NF-κB signaling pathway genes on breast cancer survival and treatment outcome

artículo científico publicado en 2014

An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

artículo científico publicado en 2016

Association analysis identifies 65 new breast cancer risk loci.

artículo científico publicado en 2017

Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer

artículo científico publicado en 2011

Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

artículo científico publicado en 2016

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

artículo científico publicado en 2014

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-cancer risk in families with mutations in PALB2

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Common germline polymorphisms associated with breast cancer-specific survival

artículo científico publicado en 2015

Copy number analysis indicates monoclonal origin of lethal metastatic prostate cancer

artículo científico publicado en 2009

Deep learning tools are top performers in long non-coding RNA prediction

publication published on 01 May 2022

Differences in definitive endoderm induction approaches using growth factors and small molecules

artículo científico publicado en 2017

Eukaryotic translation initiation factor 4E (eIF4E) expression is associated with breast cancer tumor phenotype and predicts survival after anthracycline chemotherapy treatment

artículo científico publicado en 2013

Evaluation of the RHINO gene for breast cancer predisposition in Finnish breast cancer families

artículo científico publicado en 2014

Evaluation of tools for identifying large copy number variations from ultra-low-coverage whole-genome sequencing data

artículo científico publicado en 2021

Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

scientific article published on 03 September 2016

Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer

artículo científico publicado en 2014

FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome

artículo científico publicado en 2016

FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population

artículo científico publicado en 2017

Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).

artículo científico publicado en 2016

Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus

artículo científico publicado en 2016

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 identifies two additional breast cancer susceptibility loci at 9q31.2.

artículo científico publicado en 2015

Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

artículo científico publicado en 2016

Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

artículo científico publicado en 2013

Gene expression profiles in human and mouse primary cells provide new insights into the differential actions of vitamin D3 metabolites

artículo científico publicado en 2013

Genetic modifiers of CHEK2*1100delC-associated breast cancer risk

scientific article published on 06 October 2016

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

artículo científico publicado en 2015

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

Genome-wide association study of germline variants and breast cancer-specific mortality

artículo científico publicado en 2019

Germline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women

artículo científico publicado en 2017

High miR-30 Expression Associates with Improved Breast Cancer Patient Survival and Treatment Outcome

artículo científico publicado en 2021

INPP4B and RAD50 have an interactive effect on survival after breast cancer

artículo científico publicado en 2014

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

artículo científico publicado en 2014

Identification of differentially expressed genes after PPM1D silencing in breast cancer

artículo científico publicado en 2007

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

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 inherited genetic variations influencing prognosis in early-onset breast cancer

scientific journal article

Identification of novel genetic markers of breast cancer survival

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Meta-analysis of three genome-wide association studies identifies two loci that predict survival and treatment outcome in breast cancer

artículo científico publicado en 2017

Metagenomics analysis of gut microbiota in response to diet intervention and gestational diabetes in overweight and obese women: a randomised, double-blind, placebo-controlled clinical trial

artículo científico publicado en 2020

MicroRNA related polymorphisms and breast cancer risk

artículo científico publicado en 2014

Polygenic risk score is associated with increased disease risk in 52 Finnish breast cancer families

scientific article published on 20 July 2016

Polymorphism at 19q13.41 Predicts Breast Cancer Survival Specifically after Endocrine Therapy

artículo científico publicado en 2015

Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

artículo científico publicado en 2015

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

artículo científico publicado en 2017

RAD51B in Familial Breast Cancer

artículo científico publicado en 2016

Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations

artículo científico publicado en 2012

SNP-SNP interaction analysis of NF-κB signaling pathway on breast cancer survival

artículo científico publicado en 2015

Screening of HELQ in breast and ovarian cancer families

artículo científico publicado en 2016

Spectrum of disease-causing mutations in protein secondary structures

artículo científico publicado en 2007

TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer

artículo científico publicado en 2017

The SNP rs6500843 in 16p13.3 is associated with survival specifically among chemotherapy-treated breast cancer patients

artículo científico publicado en 2015

Tool evaluation for the detection of variably sized indels from next generation whole genome and targeted sequencing data

artículo científico publicado en 2022

Lista de obras de Sofia Khan

A genome wide meta-analysis study for identification of common variation associated with breast cancer prognosis

A survey of localized sequence rearrangements in human DNA.

Abstract 3274: SNP-SNP interaction analyses of NQO1 and NF-κB signaling pathway genes on breast cancer survival and treatment outcome

An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

Association analysis identifies 65 new breast cancer risk loci.

Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer

Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

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

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

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

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-cancer risk in families with mutations in PALB2

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

Common germline polymorphisms associated with breast cancer-specific survival

Copy number analysis indicates monoclonal origin of lethal metastatic prostate cancer

Deep learning tools are top performers in long non-coding RNA prediction

Differences in definitive endoderm induction approaches using growth factors and small molecules

Eukaryotic translation initiation factor 4E (eIF4E) expression is associated with breast cancer tumor phenotype and predicts survival after anthracycline chemotherapy treatment

Evaluation of the RHINO gene for breast cancer predisposition in Finnish breast cancer families

Evaluation of tools for identifying large copy number variations from ultra-low-coverage whole-genome sequencing data

Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer

FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome

FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population

Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).

Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus

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

Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.

Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk

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

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

Gene expression profiles in human and mouse primary cells provide new insights into the differential actions of vitamin D3 metabolites

Genetic modifiers of CHEK2*1100delC-associated breast cancer risk

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Genome-wide association study of germline variants and breast cancer-specific mortality

Germline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women

High miR-30 Expression Associates with Improved Breast Cancer Patient Survival and Treatment Outcome

INPP4B and RAD50 have an interactive effect on survival after breast cancer

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

Identification of differentially expressed genes after PPM1D silencing in breast cancer

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

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

Identification of inherited genetic variations influencing prognosis in early-onset breast cancer

Identification of novel genetic markers of breast cancer survival

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

Meta-analysis of three genome-wide association studies identifies two loci that predict survival and treatment outcome in breast cancer

Metagenomics analysis of gut microbiota in response to diet intervention and gestational diabetes in overweight and obese women: a randomised, double-blind, placebo-controlled clinical trial

MicroRNA related polymorphisms and breast cancer risk

Polygenic risk score is associated with increased disease risk in 52 Finnish breast cancer families

Polymorphism at 19q13.41 Predicts Breast Cancer Survival Specifically after Endocrine Therapy

Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

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

RAD51B in Familial Breast Cancer

Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations

SNP-SNP interaction analysis of NF-κB signaling pathway on breast cancer survival

Screening of HELQ in breast and ovarian cancer families

Spectrum of disease-causing mutations in protein secondary structures

TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer

The SNP rs6500843 in 16p13.3 is associated with survival specifically among chemotherapy-treated breast cancer patients

Tool evaluation for the detection of variably sized indels from next generation whole genome and targeted sequencing data