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Jennifer Bassetti

Explore the profile of Jennifer Bassetti including associated specialties, affiliations and a list of published articles. Areas
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Recent Articles
1.
Kayumi S, Perez-Jurado L, Palomares M, Rangu S, Sheppard S, Chung W, et al.
Genet Med . 2022 Sep; 24(11):2351-2366. PMID: 36083290
Purpose: Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV; OMIM 615075) and are the most frequent, recurrent monogenic cause of cerebral palsy (CP)....
2.
Meuwissen M, Verstraeten A, Ranza E, Iwaszkiewicz J, Bastiaansen M, Mateiu L, et al.
Genet Med . 2022 May; 24(7):1583-1591. PMID: 35499524
Purpose: CTR9 is a subunit of the PAF1 complex (PAF1C) that plays a crucial role in transcription regulation by binding CTR9 to RNA polymerase II. It is involved in transcription-coupled...