Silvestre Cuinat
10PUBLICATIONS
193CO-AUTHORS
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Publications (10)
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|Nov 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.Sébastien Küry, Janelle E Stanton, Geeske M van Woerden
|Mar 21, 2025
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.Silvestre Cuinat, Nicolas Chatron, Florence Petit
|Feb 28, 2025
Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and In Cell Enzyme Activity Assay.Silvestre Cuinat, Paul Rollier, Katheryn Grand
|Dec 16, 2024
A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.Justine Guguin, Ting-Yu Chen, Silvestre Cuinat
|Sep 10, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina
|Jun 07, 2024
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.Silvestre Cuinat, Chloé Quélin, Claire Effray
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Frequent Collaborators
2 joint publications
Erin Torti
2 joint publications
Anne-Sophie Denommé-Pichon
2 joint publications
Sébastien Küry
2 joint publications
Jill A Rosenfeld
2 joint publications
Geeske van Woerden
2 joint publications
Tzung-Chien Hsieh
2 joint publications
Amber Begtrup
2 joint publications
Johanna Striesow
2 joint publications
Victoria Most
2 joint publications
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