Marine Tessarech

Paris, 75000, France

Last Updated: 09/26/2026

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Found 20 publications

Biallelic variants in SUPV3L1 cause a variable leukodystrophy due to impaired mitochondrial degradosome function.

Biallelic variants in SUPV3L1 cause a variable leukodystrophy due to impaired mitochondrial degradosome function.

Journal: Research square

Published: July 17, 2026

Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1.

Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1.

Journal: Human genomics

Published: January 23, 2026

Compound heterozygous structural variants resulting in CNTNAP2 biallelic loss-of-function: rare mechanisms unveiled by genome sequencing.

Compound heterozygous structural variants resulting in CNTNAP2 biallelic loss-of-function: rare mechanisms unveiled by genome sequencing.

Journal: Human genomics

Published: December 02, 2025

Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.

Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.

Journal: The Journal of clinical investigation

Published: September 11, 2025

Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.

Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.

Journal: medRxiv : the preprint server for health sciences

Published: July 16, 2025

Two Cases of ROSAH-Like Syndrome Restricted to the Ophthalmologic Presentation.

Two Cases of ROSAH-Like Syndrome Restricted to the Ophthalmologic Presentation.

Journal: Ocular immunology and inflammation

Published: January 23, 2025

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.

Journal: Clinical genetics

Published: November 08, 2024

Correction: Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.

Correction: Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.

Journal: European journal of human genetics : EJHG

Published: July 22, 2024

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

Journal: European journal of human genetics : EJHG

Published: July 11, 2024

Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.

Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.

Journal: European journal of human genetics : EJHG

Published: November 13, 2023

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

Journal: American journal of medical genetics. Part A

Published: October 17, 2023

De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.

De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.

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

Published: May 12, 2023

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Last Updated: 09/26/2026