Publications
Filters: Author is Thiffault, Isabelle [Clear All Filters]
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability. Brain. 2023 ;146(8):3162-3171.
. Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features. Hum Mol Genet. 2023 ;32(20):2981-2995.
. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet. 2023 ;110(8):1394-1413.
. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med. 2022 ;24(3):631-644.
. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 ;107(6):1096-1112.
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