Kathleen Freson

25PUBLICATIONS
92CO-AUTHORS
Gene and molecular therapyNeurogeneticsCardiology (incl. cardiovascular diseases)Neurology and neuromuscular diseasesHaematology
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Publications (25)

|Mar 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Daniel Greene, Rodrigo Mendez, Jon Lees

|Dec 16, 2025
Human genetics implicate thromboembolism in the pathogenesis of long COVID in individuals of European ancestry.

Art Schuermans, Andreas Verstraete, Vilma Lammi

|Apr 10, 2025
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.

Daniel Greene, Koenraad De Wispelaere, Jon Lees

|Jan 22, 2025
Functional assessment of genetic variants in thrombomodulin detected in patients with bleeding and thrombosis.

Christine Van Laer, Renaud Lavend'homme, Sarissa Baert

|Sep 16, 2024
Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy.

Daniel Greene, Koenraad De Wispelaere, Jon Lees

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