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Publications

Regional nonsense constraint offers clinical and biological insights into rare genetic disorders

Blakes A. et al, (2024)

Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants.

Lord J. et al, (2024), Genet Med, 26

Improving estimates of loss-of-function constraint for short genes.

Whiffin N., (2024), Nat Genet

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Chen Y. et al, (2024), Nature

Modulation of prion protein expression through cryptic splice site manipulation.

Gentile JE. et al, (2024), J Biol Chem

Include forthcoming?