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Authors whose works are in public domain in at least one jurisdiction

List of works by Steven N. Hart

A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer

scientific article

A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

scientific article published on 13 August 2019

A comparison of whole genome gene expression profiles of HepaRG cells and HepG2 cells to primary human hepatocytes and human liver tissues.

scientific article

APOBEC3B upregulation and genomic mutation patterns in serous ovarian carcinoma.

scientific article published on 23 October 2013

Activation of TAK1 by MYD88 L265P drives malignant B-cell Growth in non-Hodgkin lymphoma.

scientific article published on 14 February 2014

Association analysis identifies 65 new breast cancer risk loci.

scientific article published on 23 October 2017

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.

scientific article

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

scientific article published on 18 August 2021

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

scientific article published on 31 December 2014

BRCA1/2 Mutations and Bevacizumab in the Neoadjuvant Treatment of Breast Cancer: Response and Prognosis Results in Patients With Triple-Negative Breast Cancer From the GeparQuinto Study

article

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

scientific article

Bioinformatics for clinical next generation sequencing

scientific article

Calculating sample size estimates for RNA sequencing data.

scientific article

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

scientific article

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models

scientific article published on 08 June 2018

Deep Sequence Analysis of Non-Small Cell Lung Cancer: Integrated Analysis of Gene Expression, Alternative Splicing, and Single Nucleotide Variations in Lung Adenocarcinomas with and without Oncogenic KRAS Mutations ⬇️

scientific article published on February 10, 2012

Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer.

scientific article published on 15 April 2016

Effect of germline mutations in homologous recombination repair genes on overall survival of patients with pancreatic adenocarcinoma

scientific article published on 07 October 2020

Empowering Mayo Clinic Individualized Medicine with Genomic Data Warehousing

scientific article

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

scientific article published on May 2016

Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer

scientific article published on 03 March 2020

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

scientific article

Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy

scientific article

Farnesoid X receptor activation mediates head-to-tail chromatin looping in the Nr0b2 gene encoding small heterodimer partner.

scientific article

Fibroblast growth factor receptor 2 translocations in intrahepatic cholangiocarcinoma

scientific article

From days to hours: reporting clinically actionable variants from whole genome sequencing

scientific article

Genetic Alterations Associated With Progression From Pancreatic Intraepithelial Neoplasia to Invasive Pancreatic Tumor ⬇️

scientific article published on August 2, 2013

Genetic polymorphisms in cytochrome P450 oxidoreductase influence microsomal P450-catalyzed drug metabolism.

scientific article

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

scientific article (publication date: 2013)

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

scientific article published on 21 February 2019

Genome-wide tissue-specific farnesoid X receptor binding in mouse liver and intestine.

scientific article published on April 2010

Hepatocyte nuclear factor 4 alpha and farnesoid X receptor co-regulates gene transcription in mouse livers on a genome-wide scale

scientific article published on 6 March 2013

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

scientific article published on 27 April 2016

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

scientific article

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

scientific article published on 23 October 2017

Image-to-image translation for automatic ink removal in whole slide images

scientific article published on 01 September 2020

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer

scientific article

Integrated Genomic Analysis of Pancreatic Ductal Adenocarcinomas Reveals Genomic Rearrangement Events as Significant Drivers of Disease

scientific article published on 16 December 2015

Mapping molecular subtype specific alterations in breast cancer brain metastases identifies clinically relevant vulnerabilities

scientific article published on 26 January 2022

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

scientific article published in October 2021

Microarray analysis of the in vivo sequence preferences of a minor groove binding drug

scientific article

Mutation prevalence tables for hereditary cancer derived from multi-gene panel testing

scientific article published on 22 May 2020

Mutational Landscapes of Sequential Prostate Metastases and Matched Patient Derived Xenografts during Enzalutamide Therapy

scientific article

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

Novel SNPs in cytochrome P450 oxidoreductase

scientific article published on 01 August 2007

Novel patient-derived xenograft mouse model for pancreatic acinar cell carcinoma demonstrates single agent activity of oxaliplatin

scientific article published on 10 May 2016

P450 oxidoreductase: genetic polymorphisms and implications for drug metabolism and toxicity

scientific article published on 01 April 2008

PANDA: pathway and annotation explorer for visualizing and interpreting gene-centric data.

scientific article

Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium

scientific article published on 03 October 2016

PatternCNV: a versatile tool for detecting copy number changes from exome sequencing data.

scientific article

Pitfalls in machine learning‐based assessment of tumor‐infiltrating lymphocytes in breast cancer: A report of the International Immuno‐Oncology Biomarker Working Group on Breast Cancer

scientific article published in August 2023

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

scientific article

Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML

scientific article published on 29 April 2020

Pregnancy-associated plasma protein-A expression in human breast cancer

scientific article

Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients

scientific article published on 19 October 2015

Robust hierarchical density estimation and regression for re-stained histological whole slide image co-registration

scientific article published on 24 July 2019

SoftSearch: integration of multiple sequence features to identify breakpoints of structural variations

scientific article

Somatic expression of ENRAGE is associated with obesity status among patients with clear cell renal cell carcinoma

scientific article published on 28 December 2013

TP53 mutations, tetraploidy and homologous recombination repair defects in early stage high-grade serous ovarian cancer

scientific article

The Biological Reference Repository (BioR): a rapid and flexible system for genomics annotation.

scientific article

The role of CYP3A4 mRNA transcript with shortened 3'-untranslated region in hepatocyte differentiation, liver development, and response to drug induction.

scientific article published on 13 October 2011

Three patterns of cytochrome P450 gene expression during liver maturation in mice.

scientific article published on 09 October 2008

Transcriptomic and Immunohistochemical Profiling of SLC6A14 in Pancreatic Ductal Adenocarcinoma

scientific article published on 27 May 2015

VCF-Miner: GUI-based application for mining variants and annotations stored in VCF files

scientific article published on 25 July 2015

Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer

scientific article published on 16 December 2020

rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk

scientific article

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