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Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer

JAMA : the journal of the American Medical Association, 2018-06, Vol.319 (23), p.2401

2018

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Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing

JNCI : Journal of the National Cancer Institute, 2018-08, Vol.110 (8), p.855-862

2018

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

American journal of human genetics, 2016-05, Vol.98 (5), p.801-817

2016

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Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls

Gynecologic oncology, 2017-11, Vol.147 (2), p.375-380

2017

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The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort

JNCI : Journal of the National Cancer Institute, 2020-12, Vol.112 (12), p.1231-1241

2020

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Fibroblast growth factor receptor 2 translocations in intrahepatic cholangiocarcinoma

Human pathology, 2014-08, Vol.45 (8), p.1630-1638

2014

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Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer

JAMA oncology, 2017-09, Vol.3 (9), p.1190

2017

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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

Genetics in medicine, 2020-02, Vol.22 (2), p.407-415

2020

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Using AI-predicted protein structures as a reference to predict loss-of-function activity in tumor suppressor breast cancer genes

Computational and structural biotechnology journal, 2024-12, Vol.23, p.3472-3480

2024

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

Drug metabolism and disposition, 2010-06, Vol.38 (6), p.988-994

2010

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

Nature communications, 2022-01, Vol.13 (1), p.514-514, Article 514

2022

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Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance

American journal of human genetics, 2021-03, Vol.108 (3), p.458-468

2021

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Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy

Frontiers in genetics, 2019-08, Vol.10, p.736-736

2019

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

Proceedings of the National Academy of Sciences - PNAS, 2014-10, Vol.111 (42), p.15172-15177

2014

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

PloS one, 2019-07, Vol.14 (7), p.e0220074-e0220074

2019

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

Genetics in medicine, 2019-01, Vol.21 (1), p.71-80

2019

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Recommendations for performance optimizations when using GATK3.8 and GATK4

BMC bioinformatics, 2019-11, Vol.20 (1), p.557-557, Article 557

2019

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

Bioinformatics (Oxford, England), 2014-07, Vol.30 (13), p.1920-1922

2014

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

PloS one, 2013-12, Vol.8 (12), p.e83356-e83356

2013

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Design considerations for workflow management systems use in production genomics research and the clinic

Scientific reports, 2021-11, Vol.11 (1), p.21680-18, Article 21680

2021

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

NPJ breast cancer, 2017-06, Vol.3 (1), p.22-10, Article 22

2017

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Classification of Melanocytic Lesions in Selected and Whole-Slide Images via Convolutional Neural Networks

Journal of pathology informatics, 2019-01, Vol.10 (1), p.5-5, Article 5

2019

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

Drug metabolism and disposition, 2009-01, Vol.37 (1), p.116-121

2009

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Dynamic Patterns of Histone Methylation Are Associated with Ontogenic Expression of the Cyp3a Genes during Mouse Liver Maturation

Molecular pharmacology, 2009-05, Vol.75 (5), p.1171-1179

2009

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Organizational preparedness for the use of large language models in pathology informatics

Journal of pathology informatics, 2023-01, Vol.14, p.100338-100338, Article 100338

2023

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Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer

Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing

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

Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls

The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort

Fibroblast growth factor receptor 2 translocations in intrahepatic cholangiocarcinoma

Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer

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

Using AI-predicted protein structures as a reference to predict loss-of-function activity in tumor suppressor breast cancer genes

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

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

Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance

Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy

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

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

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

Recommendations for performance optimizations when using GATK3.8 and GATK4

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

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

Design considerations for workflow management systems use in production genomics research and the clinic

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

Classification of Melanocytic Lesions in Selected and Whole-Slide Images via Convolutional Neural Networks

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

Dynamic Patterns of Histone Methylation Are Associated with Ontogenic Expression of the Cyp3a Genes during Mouse Liver Maturation

Organizational preparedness for the use of large language models in pathology informatics

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