Kathleen Freson

The paper identifies biallelic variants in RNU2-2 as a common cause of recessive neurodevelopmental disorders, showing higher prevalence than the dominant form in England.

This study identifies a genetic association between thromboembolism risk and long COVID in individuals of European ancestry, suggesting thromboembolism as a potential contributor to long COVID pathogenesis.

This study develops a turbulence-assisted system to enhance iPSC-platelet production by regulating actin dynamics and mitochondrial inheritance.

The paper identifies recurrent mutations in the RNU2-2P gene, which encodes U2 snRNA, as a cause of a severe neurodevelopmental disorder with prominent epilepsy.

This study uses a computational framework to analyze genetic data from 77,539 genomes, identifying 21 novel genetic associations with 269 rare diseases.

The paper reports a diagnostic HTS test for bleeding, thrombotic, and platelet disorders, identifying molecular diagnoses in 897 out of 2,390 patients.