Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.

Jennefer N KohlerNicole R LegroDustin BaldridgeJimann ShinAngela BowmanBerrak UgurMadelyn M JackstadtLeah P ShriverGary J PattiBo ZhangWenjia FengAnthony R McAdowPagé GoddardRachel A UngarTanner JensenKevin S SmithLaure FresardRaquel AlvarezDevon BonnerChloe M ReuterColleen McCormackElijah KravetsShruti MarwahaJames M Holtnull nullElizabeth A WortheyEuan A AshleyStephen B MontgomeryPaul G FisherJohn PostlethwaitPietro De CamilliLila Solnica-KrezelJonathan A BernsteinMatthew T Wheeler

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2024)

Our data shed light on the emerging function of FAM177A1 and defines FAM177A1-related neurodevelopmental disorder as a new clinical entity.

Keyphrases

electronic health record
big data
small molecule
data analysis