Area of research
Molecular Biology · Cancer Research
Research interest
Research focused on Germline and Medical genetics, with related work in Computational biology, Benignity, Consistency (knowledge bases). Notable publications include 'Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria', 'ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation', and 'Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel'.
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variants
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation
Gene‐specific criteria for <i>PTEN</i> variant curation: Recommendations from the ClinGen PTEN Expert Panel
Germline PARP4 mutations in patients with primary thyroid and breast cancers