Leila Qebibo

Paris, France

Last Updated: 09/26/2026

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Found 13 publications

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

Journal: Science advances

Published: October 17, 2025

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

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

Published: August 07, 2024

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

Journal: Brain : a journal of neurology

Published: March 14, 2024

Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow-up.

Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow-up.

Journal: Prenatal diagnosis

Published: August 02, 2023

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: February 21, 2023

New insights into CC2D2A-related Joubert syndrome.

New insights into CC2D2A-related Joubert syndrome.

Journal: Journal of medical genetics

Published: June 20, 2022

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.

Journal: eLife

Published: June 13, 2022

Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review.

Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review.

Journal: Journal of clinical medicine

Published: May 19, 2022

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.

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

Published: April 26, 2022

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.

Journal: Brain : a journal of neurology

Published: April 16, 2022

Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8.

Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8.

Journal: Annals of clinical and translational neurology

Published: July 02, 2021

VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis.

VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis.

Journal: American journal of hematology

Published: December 16, 2020

Showing 1-12 of 13

Last Updated: 09/26/2026