Vincenzo Salpietro

发表

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

Denise G. Lanza, Jason D. Heaney, J. Posey, 2024, American journal of human genetics.

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

S. Lalani, R. Louie, G. Chillemi, 2024, Nature communications.