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Medrxiv : the Preprint Server for Health Sciences|June 10, 2024
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline <i>ATM</i> sequence variantsMarcy E Richardson, Megan Holdren, Terra Brannan, et al.American Journal of Human Genetics|September 18, 2025
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variantsMarcy E Richardson, Megan F H Bishop, Megan A Holdren, et al.Cancer Medicine|August 28, 2024
Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical managementGiovanni Innella, Cristina Fortuno, Laura Caleca, et al.Human Mutation|December 12, 2023
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline <i>DICER1</i> Variant CurationJessica N Hatton, Megan N Frone, Hannah C Cox, et al.Cancer Research|May 30, 2023
Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51CChunling Hu, Anil Belur Nagaraj, Hermela Shimelis, 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 PanelMichael T Parsons, Miguel de la Hoya, Marcy E Richardson, et al.Pageof 3