Genetic association analysis of 77,539 genomes reveals rare disease etiologies

Greene D, ..., Ostergaard P, Loeys B, Morisaki H, Ahmed ZM, Birdsey GM, Freson K, Mumford AD, Turro E.

Nature Medicine, March 2023

Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders

Greene D, Thys C, Berry IR, Jarvis J, Ortibus E, Mumford AD, Freson K, Turro E.

Nature Medicine, May 2024

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

Greene D, De Wispelaere K, Lees J, ..., Tizzano EF, Barakat T, O'Donoghue M, Pérez-Jurado L, Freson K, Mumford AD, Turro E.

Nature Genetics, April 2025

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

Greene D, Mendez R, Lees J, Barbosa M, ..., Bernstein JA, Mumford AD, Wheeler MT, Turro E.

medRxiv, August 2025