Silvestre Cuinat

Bron, France

Last Updated: 09/26/2026

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Found 25 publications

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

SRRM2 and neuroendocrine cell hyperplasia of infancy: connecting neurodevelopment to the lungs.

SRRM2 and neuroendocrine cell hyperplasia of infancy: connecting neurodevelopment to the lungs.

Journal: The European respiratory journal

Published: September 03, 2025

Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.

Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.

Journal: Neurogenetics

Published: July 02, 2025

Novel VAC14 Variants Identified in a Patient with Striatonigral Degeneration and Prolonged Survival.

Novel VAC14 Variants Identified in a Patient with Striatonigral Degeneration and Prolonged Survival.

Journal: Movement disorders clinical practice

Published: February 20, 2025

C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder.

C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 21, 2024

Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and In Cell Enzyme Activity Assay.

Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and In Cell Enzyme Activity Assay.

Journal: Neurology. Genetics

Published: September 25, 2024

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: medRxiv : the preprint server for health sciences

Published: September 10, 2024

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: Cell

Published: August 19, 2024

A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.

A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.

Journal: PLoS genetics

Published: July 26, 2024

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.

Journal: European journal of human genetics : EJHG

Published: June 24, 2024

Neurodevelopmental proteasomopathies: New disorders caused by proteasome dysfunction

Neurodevelopmental proteasomopathies: New disorders caused by proteasome dysfunction

Journal: Medecine sciences : M/S

Published: February 27, 2024

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Last Updated: 09/26/2026