Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.

Valentina SerpieriGiulia MortariniHailey LoucksTommaso BiaginiAlessia MicalizziIlaria PalmieriJennifer C DempseyFulvio D'AbruscoConcetta MazzottaRoberta BattiniEnrico Silvio BertiniEugen BoltshauserRenato BorgattiKnut BrockmannStefano D'ArrigoNardo NardocciRita FischettoEmanuele AgoliniAntonio NovelliAlfonso RomanoLudovica PascaFranco StanzialSabrina SignoriniPietro StrisciuglioSimone GanaTommaso MazzaDan DohertyEnza Maria Valente

Published in: Journal of medical genetics (2023)

This study contributes to understand the complex genetic landscape of JS, explain its variable prevalence in distinct geographical areas and characterise two recurrent hypomorphic variants.

Keyphrases

copy number
genome wide
single cell
risk factors
gene expression