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Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars

Human mutation, 2020-10, Vol.41 (10), p.1705-1721

2020

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Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars

Human mutation, 2022-12, Vol.43 (12), p.2328-2328

2022

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls

Nature communications, 2018-10, Vol.9 (1), p.4083-7, Article 4083

2018

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Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices

Journal of medical genetics, 2023-06, Vol.60 (6), p.609

2023

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Current review of TP53 pathogenic germline variants in breast cancer patients outside Li‐Fraumeni syndrome

Human mutation, 2018-12, Vol.39 (12), p.1764-1773

2018

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Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls

JNCI : Journal of the National Cancer Institute, 2020-04, Vol.112 (4), p.369-376

2020

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Helicobacter pylori, Homologous-Recombination Genes, and Gastric Cancer

The New England journal of medicine, 2023-03, Vol.388 (13), p.1181-1190

2023

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Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification

Journal of Medical Genetics, 2012-03, Vol.49 (3), p.151-157

2012

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Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing

Modern pathology, 2017-08, Vol.30 (8), p.1048-1068

2017

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Re-analysis of genomic data: An overview of the mechanisms and complexities of clinical adoption

Genetics in medicine, 2022-04, Vol.24 (4), p.798-810

2022

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Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

Human mutation, 2008-11, Vol.29 (11), p.1282-1291

2008

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SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

Human mutation, 2022-12, Vol.43 (12), p.2308-2323

2022

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Identification of nine new susceptibility loci for endometrial cancer

Nature communications, 2018-08, Vol.9 (1), p.3166-12, Article 3166

2018

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Genome-Wide Association Studies of Endometrial Cancer: Latest Developments and Future Directions

Cancer epidemiology, biomarkers & prevention, 2019-07, Vol.28 (7), p.1095-1102

2019

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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Nature genetics, 2014-02, Vol.46 (2), p.107-115

2014

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Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis

JNCI : Journal of the National Cancer Institute, 2015-09, Vol.107 (9), p.1

2015

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Rare variants in the ATM gene and risk of breast cancer

Breast cancer research : BCR, 2011-07, Vol.13 (4), p.R73-R73

2011

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Incidence, risk factors and estimates of a woman's risk of developing secondary lower limb lymphedema and lymphedema-specific supportive care needs in women treated for endometrial cancer

Gynecologic oncology, 2015-01, Vol.136 (1), p.87-93

2015

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Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models

Current opinion in genetics & development, 2010-06, Vol.20 (3), p.315-323

Spurdle, Amanda B

2010

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Correspondence on “Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)” by Riggs et al

Genetics in medicine, 2023-08, Vol.25 (8), p.100868-100868, Article 100868

2023

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SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion

Bioinformatics (Oxford, England), 2023-04, Vol.39 (4)

2023

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Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

International journal of cancer, 2019-07, Vol.145 (2), p.401-414

2019

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A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity

Bioinformatics (Oxford, England), 2019-07, Vol.35 (13), p.2315-2317

2019

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Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars

Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls

Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices

Current review of TP53 pathogenic germline variants in breast cancer patients outside Li‐Fraumeni syndrome

Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls

Helicobacter pylori, Homologous-Recombination Genes, and Gastric Cancer

Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification

Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing

Re-analysis of genomic data: An overview of the mechanisms and complexities of clinical adoption

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

Identification of nine new susceptibility loci for endometrial cancer

Genome-Wide Association Studies of Endometrial Cancer: Latest Developments and Future Directions

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants

Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis

Tumor Mismatch Repair Immunohistochemistry and DNA MLH1 Methylation Testing of Patients With Endometrial Cancer Diagnosed at Age Younger Than 60 Years Optimizes Triage for Population-Level Germline Mismatch Repair Gene Mutation Testing

Rare variants in the ATM gene and risk of breast cancer

Incidence, risk factors and estimates of a woman's risk of developing secondary lower limb lymphedema and lymphedema-specific supportive care needs in women treated for endometrial cancer

Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models

Correspondence on “Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)” by Riggs et al

SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion

Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity

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