Pauline Bordeneuve-Plante

Paris, 75000, France

Last Updated: 09/26/2026

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Found 8 publications

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

ATAD3 duplications bridge mitochondrial diseases and Aicardi-Goutières syndrome.

ATAD3 duplications bridge mitochondrial diseases and Aicardi-Goutières syndrome.

Journal: Developmental medicine and child neurology

Published: March 06, 2025

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Journal: Nature communications

Published: December 18, 2024

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.

Journal: Epilepsia open

Published: October 11, 2024

NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.

NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.

Journal: European journal of medical genetics

Published: October 09, 2024

Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report.

Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report.

Journal: BMC neurology

Published: June 06, 2024

Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy.

Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy.

Journal: American journal of medical genetics. Part A

Published: April 30, 2024

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Last Updated: 09/26/2026