Collaborator: GeneDx

• De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

• Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian cancer

• 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

• The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

  August 3, 2026

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

• Genotype-phenotype correlations among TP53 carriers: literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing

  Abstract Pathogenic germline variants in the TP53 gene predispose to a wide range of cancers, known collectively as Li-Fraumeni syndrome (LFS). There has been much research aimed to identify genotype-phenotype correlations, that is, differences between variant location and/or effect and cancer spectrum. These correlations, should they exist, have potential to impact clinical management of carriers.…

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

  April 2, 2026

• SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals

  Abstract Pathogenic de novo variants in the X‐linked gene SLC35A2 encoding the major Golgi‐localized UDP‐galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2‐congenital disorders of glycosylation (CDG; formerly CDG‐IIm). To date, 29 unique de novo variants from 32 unrelated individuals have been described in the…

• 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…

• Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

  Abstract ClinVar provides open access to variant classifications shared from many clinical laboratories. Although most classifications are consistent across laboratories, classification differences exist. To facilitate resolution of classification differences on a large scale, clinical laboratories were encouraged to reassess outlier classifications of variants with medically significant differences (MSDs). Outliers were identified by first comparing ClinVar…