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Genome Medicine
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October 23, 2025
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome
Cristina Fortuno, Megan N Frone, Jessica Mester, et al.
American Journal of Human Genetics
|
August 14, 2024
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
Michael T Parsons, Miguel de la Hoya, Marcy E Richardson, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|
October 21, 2021
Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast
Siddhartha Yadav, Chunling Hu, Katherine L Nathanson, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
November 8, 2024
Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma In Situ of the Breast
Huaizhi Huang, Ronan E Couch, Rachid Karam, et al.
Cancer Research
|
May 30, 2023
Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C
Chunling Hu, Anil Belur Nagaraj, Hermela Shimelis, et al.
NPJ Precision Oncology
|
March 6, 2020
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes
Tyler Landrith, Bing Li, Ashley A Cass, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 17, 2024
Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population
Mwangala P Akamandisa, Nicholas J Boddicker, Siddhartha Yadav, et al.
Human Mutation
|
August 18, 2022
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach
Mads Thomassen, Romy L S Mesman, Thomas V O Hansen, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|
July 22, 2021
Risk of Late-Onset Breast Cancer in Genetically Predisposed Women
Nicholas J Boddicker, Chunling Hu, Jeffrey N Weitzel, et al.
American Journal of Human Genetics
|
October 31, 2025
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes
Sharon E Johnatty, Emma Tudini, Michael T Parsons, et al.
Page
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Search research articles
Search
Showing results (71-80 of 83) with videos related to
Sort By:
Page
of 9
Genome Medicine
|
October 23, 2025
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome
Cristina Fortuno, Megan N Frone, Jessica Mester, et al.
American Journal of Human Genetics
|
August 14, 2024
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
Michael T Parsons, Miguel de la Hoya, Marcy E Richardson, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|
October 21, 2021
Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast
Siddhartha Yadav, Chunling Hu, Katherine L Nathanson, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
November 8, 2024
Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma In Situ of the Breast
Huaizhi Huang, Ronan E Couch, Rachid Karam, et al.
Cancer Research
|
May 30, 2023
Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C
Chunling Hu, Anil Belur Nagaraj, Hermela Shimelis, et al.
NPJ Precision Oncology
|
March 6, 2020
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes
Tyler Landrith, Bing Li, Ashley A Cass, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 17, 2024
Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population
Mwangala P Akamandisa, Nicholas J Boddicker, Siddhartha Yadav, et al.
Human Mutation
|
August 18, 2022
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach
Mads Thomassen, Romy L S Mesman, Thomas V O Hansen, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|
July 22, 2021
Risk of Late-Onset Breast Cancer in Genetically Predisposed Women
Nicholas J Boddicker, Chunling Hu, Jeffrey N Weitzel, et al.
American Journal of Human Genetics
|
October 31, 2025
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes
Sharon E Johnatty, Emma Tudini, Michael T Parsons, et al.
Page
of 9