Collaborator: University of Pennsylvania

• Real-world integration of genomic data into the electronic health record: the PennChart Genomics Initiative

• A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers

• Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines

• Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant

• Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

• Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

• A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations

• Clinical and Molecular Characteristics of NF1 Pathogenic Variants Identified on Hereditary Cancer Multi-Gene Panels

• Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

  Abstract Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and predisposition to cancer. However, identification of variants that impact splicing remains a challenge, contributing to a substantial proportion of patients with suspected hereditary cancer syndromes remaining without a molecular diagnosis. To address this, we used capture RNA-sequencing (RNA-seq) to generate a…

• Concurrent DNA and RNA genetic testing identifies more patients with Lynch Syndrome than DNA testing alone

  * Concurrent RNA and DNA genetic testing increases the clinical impact of Lynch syndrome testing. * In this pilot study, RNA sequencing contributed to a 14% relative increase in diagnostic yield for Lynch syndrome overall; this increase was even higher among families with 3 or more individuals with Lynch spectrum cancers. * RNA sequencing also…

  April 2, 2026