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Human Molecular Genetics|January 25, 2024
Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelinesCristina Fortuno, Kyriaki Michailidou, Michael Parsons, et al.
Annals of Surgical Oncology|September 1, 2018
Utility of Expedited Hereditary Cancer Testing in the Surgical Management of Patients with a New Breast Cancer DiagnosisKristin A Theobald, Lisa R Susswein, Megan L Marshall, et al.
Human Mutation|October 13, 2018
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert PanelJessica L Mester, Rajarshi Ghosh, Tina Pesaran, et al.
Gastroenterology|February 13, 2013
Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polypsJoanne Ngeow, Brandie Heald, Lisa A Rybicki, et al.
Molecular Cancer Research : MCR|May 28, 2013
A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinomaMegan N Farley, Laura S Schmidt, Jessica L Mester, et al.
Human Mutation|October 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretationEdgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, et al.
Human Mutation|December 12, 2023
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant CurationJessica N Hatton, Megan N Frone, Hannah C Cox, et al.
Genome Medicine|January 18, 2022
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelinesChristine G Preston, Matt W Wright, Rao Madhavrao, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2023
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsyMaimuna S Paul, Sydney L Michener, Hongling Pan, et al.
Brain : a Journal of Neurology|June 10, 2025
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorderMarissa J Maroni, Melissa Barton, Katherine Lynch, et al.
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