Stephanie Valence

Paris, France

Last Updated: 09/26/2026

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Found 50 publications

Prenatal Diagnosis and Neurodevelopmental Outcome of Children With Marked Opening of the Fourth Ventricle: Challenges and Pitfalls in MRI Diagnostic Criteria.

Prenatal Diagnosis and Neurodevelopmental Outcome of Children With Marked Opening of the Fourth Ventricle: Challenges and Pitfalls in MRI Diagnostic Criteria.

Journal: Prenatal diagnosis

Published: December 30, 2025

Highlighting the value of polymyography in childhood onset movement disorders.

Highlighting the value of polymyography in childhood onset movement disorders.

Journal: Frontiers in neurology

Published: December 19, 2025

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.

Journal: Frontiers in genetics

Published: December 05, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

Resolving structural variations missed by short-read sequencing uncovers their pathogenicity.

Resolving structural variations missed by short-read sequencing uncovers their pathogenicity.

Journal: Journal of medical genetics

Published: April 04, 2025

A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.

A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.

Journal: Brain : a journal of neurology

Published: December 31, 2024

Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcome.

Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcome.

Journal: Epilepsia

Published: November 26, 2024

Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 Individuals.

Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 Individuals.

Journal: Pediatric neurology

Published: October 31, 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

Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.

Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.

Journal: Journal of medical genetics

Published: March 23, 2023

Further characterisation of ARX-related disorders in females due to inherited or de novo variants.

Further characterisation of ARX-related disorders in females due to inherited or de novo variants.

Journal: Journal of medical genetics

Published: February 09, 2023

Showing 1-12 of 50

Last Updated: 09/26/2026