Collaborator: Ghent University

• Genes associated with hypertrophic cardiomyopathy: A reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel

• Clinical validity of autosomal dominant ALPK3 loss-of-function variants as a cause of hypertrophic cardiomyopathy

• ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

• Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach

• Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

  Abstract Purpose To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic, male breast, prostate, and colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these risks have not been extensively characterized. Methods We analyzed data from 524 families with PALB2 PVs from 21 countries. Complex segregation analysis was used…