Silvia De Rubeis

Allen Institute for Brain Science — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

40h-index17.3kcitations123works3.62yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(58), Autism Spectrum Disorder Research(48), Genomic variations and chromosomal abnormalities(24), Congenital heart defects research(24), Genomics and Rare Diseases(19)

Publications119 total

Common characteristics of variants linked to autism spectrum disorder in the WAVE regulatory complex
Frontiers in Computational Neuroscience·2025Open Access
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
The American Journal of Human Genetics·2025· 1 citedOpen Access
Impact of Genetic Variants Associated with Neurodevelopmental Disorders on the WAVE Regulatory Complex
Journal of Chemical Information and Modeling·2025· 1 citedOpen Access
Expanding the understanding of DDX3X-related neurodevelopmental disorder in males
European Journal of Human Genetics·2025
Sex-specific perturbations of neuronal development caused by mutations in the autism risk gene DDX3X
Nature Communications·2025· 5 citedOpen Access
DEAD/DEAH-box RNA helicases shape the risk of neurodevelopmental disorders
Trends in Genetics·2025· 5 cited
A subpopulation of cortical neurons altered by mutations in the autism risk gene <i>DDX3X</i>
Biology Open·2025· 3 citedOpen Access
Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations
2025· 3 citedOpen Access
Neurobiology of Autism Spectrum Disorder and Intellectual Disability
2025
Molecular basis of the <scp>CYFIP2</scp> and <scp>NCKAP1</scp> autism‐linked variants in the <scp>WAVE</scp> regulatory complex
Protein Science·2024· 4 citedOpen Access
Skipping of Exon 20 in <i>EP300</i> : A Novel Variant Linked to Rubinstein–Taybi Syndrome With Atypical and Severe Clinical Manifestations
Clinical Genetics·2024· 1 citedOpen Access
Neuronal diversity and stereotypy at multiple scales through whole brain morphometry
Nature Communications·2024· 16 citedOpen Access
Sex-specific perturbations of neuronal development caused by mutations in the autism risk gene <i>DDX3X</i>
2024· 4 citedOpen Access
Author response for "Skipping of Exon 20 in &lt;i&gt;EP300&lt;/i&gt;: A Novel Variant Linked to Rubinstein–Taybi Syndrome With Atypical and Severe Clinical Manifestations"
2024
Molecular basis of the CYFIP2 and NCKAP1 autism-linked variants in the WAVE regulatory complex
2024
Emerging X-linked genes associated with neurodevelopmental disorders in females
Current Opinion in Neurobiology·2024· 9 citedOpen Access
<scp>DDX3X</scp> syndrome: From clinical phenotypes to biological insights
Journal of Neurochemistry·2024· 12 citedOpen Access
Author response for "&lt;scp&gt;DDX3X&lt;/scp&gt; syndrome: From clinical phenotypes to biological insights"
2024
Nuclear RNA catabolism controls endogenous retroviruses, gene expression asymmetry, and dedifferentiation
Molecular Cell·2023· 16 citedOpen Access
Table of Contents
Genetics in Medicine·2023Open Access
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Frequent Co-authors

Joseph D. Buxbaum(31), Claudia Bagni(11), Alexander Kolevzon(10), Lambertus Klei(9), Andreas G. Chiocchetti(8), Christine Stevens(8), Christine M. Freitag(8), Kathryn Roeder(8), Bernie Devlin(8), Mark J. Daly(8), F. Kyle Satterstrom(8), Dorothy E. Grice(8), Benjamin M. Neale(7), Christina M. Hultman(7), Xinyi Xu(7), Alfredo Brusco(7), Giovanni Battista Ferrero(7), Daniele Di Marino(7), Menachem Fromer(6), Branko Aleksić(6)