Frederic Ebstein

Irs Un
Nantes, France

Last Updated: 09/26/2026

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Found 59 publications

From outflow tract development to ventriculo-arterial discordance - Developmental and genetic mechanisms of d-TGA and ccTGA.

From outflow tract development to ventriculo-arterial discordance - Developmental and genetic mechanisms of d-TGA and ccTGA.

Journal: FEBS letters
Published: April 09, 2026

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

Journal: medRxiv : the preprint server for health sciences
Published: December 19, 2025

A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis.

A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis.

Journal: Annals of the rheumatic diseases
Published: July 24, 2025

Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease.

Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease.

Journal: Journal of human immunity
Published: May 16, 2025

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Journal: Research square
Published: June 21, 2024

Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.

Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.

Journal: EBioMedicine
Published: April 29, 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

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Journal: Nature communications
Published: February 06, 2024

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Journal: medRxiv : the preprint server for health sciences
Published: January 31, 2024

Exploring the origins of neurodevelopmental proteasomopathies associated with cardiac malformations: are neural crest cells central to certain pathological mechanisms?

Exploring the origins of neurodevelopmental proteasomopathies associated with cardiac malformations: are neural crest cells central to certain pathological mechanisms?

Journal: Frontiers in cell and developmental biology
Published: January 15, 2024

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Journal: Annals of neurology
Published: November 16, 2023

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 10, 2023
Showing 1-12 of 59

Last Updated: 09/26/2026