Collaborator: Baylor College of Medicine

• Germline pathogenic SMARCA4 variants in neuroblastoma

• Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

• Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

• De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

• ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel

  Award: Poster of Distinction

  April 2, 2026

• NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum

  August 3, 2026

• Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation

• Predicted truncating variants in SMARCA4 may be innocent: The importance of multi-institutional collaboration

  April 2, 2026

• VHL Information Sharing International Consortium (VISION): A ClinGen Expert Panel to Evaluate VHL Gene-Specific Criteria for Variant Interpretation

  April 2, 2026

• Gene-Specific Criteria for PTEN Variant Curation: Recommendations from the ClinGen PTEN Expert Panel

  Abstract The ClinGen PTEN Expert Panel was organized by the ClinGen Hereditary Cancer Clinical Domain Working Group to assemble clinicians, researchers, and molecular diagnosticians with PTEN expertise to develop specifications to the 2015 ACMG/AMP Sequence Variant Interpretation Guidelines for PTEN variant interpretation. We describe finalized PTEN‐specific variant classification criteria and outcomes from pilot testing of 42 variants with…