Collaborator: Ohio State University (OSU)

• Clinical characteristics of patients with hereditary transthyretin mutations primarily associated with cardiomyopathy and other rare transthyretin mutations: Insights from a genetic testing programme

  April 2, 2026

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

• Functional and clinical characterization of variants of uncertain significance identifies a hotspot for inactivating missense variants in RAD51C

• Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines

• Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel

• Risk assessment and genetic counseling for Lynch syndrome – Practice resource of the National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer

• Response to McGurk et al

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

• Rare BRIP1 missense alleles confer risk for ovarian and breast cancer.

  Abstract Germline loss-of-function mutations in BRCA1 interacting protein C-terminal helicase 1 (BRIP1) are associated with ovarian carcinoma and may also contribute to breast cancer risk, particularly among patients who develop disease at an early age. Normal BRIP1 activity is required for DNA interstrand cross-link (ICL) repair and is thus central to the maintenance of genome…

• 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