Silvia De Rubeis
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Explore the profile of Silvia De Rubeis including associated specialties, affiliations and a list of published articles.
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67
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6885
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Recent Articles
1.
Flores M, Garcia-Forn M, von Mueffling A, Ola P, Park Y, Boitnott A, et al.
Biol Open
. 2025 Jan;
14(1).
PMID: 39878593
Cell fate decisions during cortical development sculpt the identity of long-range connections that subserve complex behaviors. These decisions are largely dictated by mutually exclusive transcription factors, including CTIP2/Bcl11b for subcerebral...
2.
Avila M, Jung S, Satterstrom F, Fu J, Levy T, Sloofman L, et al.
medRxiv
. 2025 Jan;
PMID: 39830258
The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high risk for autism spectrum disorder (ASD), intellectual disability, and other developmental...
3.
Fiorenzani C, Mossa A, De Rubeis S
Trends Genet
. 2025 Jan;
PMID: 39828505
The DEAD/DEAH-box family of RNA helicases (RHs) is among the most abundant and conserved in eukaryotes. These proteins catalyze the remodeling of RNAs to regulate their splicing, stability, localization, and...
4.
Xie S, Zuo K, De Rubeis S, Ruggerone P, Carloni P
Protein Sci
. 2024 Dec;
34(1):e5238.
PMID: 39660913
The WAVE regulatory pentameric complex regulates actin remodeling. Two components of it (CYFIP2 and NCKAP1) are encoded by genes whose genetic mutations increase the risk for autism spectrum disorder (ASD)...
5.
Mossa A, Dierdorff L, Lukin J, Park Y, Fiorenzani C, Akpinar Z, et al.
bioRxiv
. 2024 Nov;
PMID: 39605424
is an X-linked RNA helicases that escapes X chromosome inactivation and is expressed at higher levels in female brains. Mutations in are associated with intellectual disability (ID) and autism spectrum...
6.
Pavinato L, Carestiato S, Trajkova S, Sorasio L, Mantovani G, de Sanctis L, et al.
Clin Genet
. 2024 Nov;
107(3):354-358.
PMID: 39603792
Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder linked to haploinsufficiency of CREBBP (RSTS1) and EP300 (RSTS2) genes. Characteristic features often include distinctive facial traits, broad thumbs and...
7.
Liu Y, Jiang S, Li Y, Zhao S, Yun Z, Zhao Z, et al.
Nat Commun
. 2024 Nov;
15(1):10269.
PMID: 39592611
We conducted a large-scale whole-brain morphometry study by analyzing 3.7 peta-voxels of mouse brain images at the single-cell resolution, producing one of the largest multi-morphometry databases of mammalian brains to...
8.
Lukin J, Smith C, De Rubeis S
Curr Opin Neurobiol
. 2024 Aug;
88:102902.
PMID: 39167997
A significant source of risk for neurodevelopmental disorders (NDDs), including intellectual disability (ID) and autism spectrum disorder (ASD), lies in genes located on the X chromosome. Males can be particularly...
9.
von Mueffling A, Garcia-Forn M, De Rubeis S
J Neurochem
. 2024 Jul;
168(9):2147-2154.
PMID: 38976626
DDX3X syndrome is a neurodevelopmental disorder accounting for up to 3% of cases of intellectual disability (ID) and affecting primarily females. Individuals diagnosed with DDX3X syndrome can also present with...
10.
Dierdorff L, Garcia-Forn M, von Mueffling A, De Rubeis S
Methods Cell Biol
. 2024 Jun;
188:171-181.
PMID: 38880523
Alterations in motor development often accompany neurodevelopmental disorders (NDD) and can have an impact on social interaction and communication. Studying motor development and function in mouse models of NDDs can...