Benedicte Gerard

Strasbourg, France

Last Updated: 09/26/2026

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Found 77 publications

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Journal: American journal of human genetics

Published: February 06, 2026

First Identification of a Heterozygous RNU4-2 and RNU4-1 Deletion Associated With Fetal Urogenital and Anorectal Malformations.

First Identification of a Heterozygous RNU4-2 and RNU4-1 Deletion Associated With Fetal Urogenital and Anorectal Malformations.

Journal: Prenatal diagnosis

Published: January 08, 2026

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

Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.

Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.

Journal: European journal of human genetics : EJHG

Published: September 11, 2025

Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification.

Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification.

Journal: Prenatal diagnosis

Published: June 18, 2025

PIK3C2A-Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect.

PIK3C2A-Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect.

Journal: Clinical genetics

Published: March 05, 2025

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Journal: Genome medicine

Published: December 11, 2024

Homozygous loss of function variant in LMNB2 gene causes major brain malformation and perinatal death.

Homozygous loss of function variant in LMNB2 gene causes major brain malformation and perinatal death.

Journal: Journal of medical genetics

Published: December 04, 2024

Nefopam Misuse: A Cross-Sectional Study in France.

Nefopam Misuse: A Cross-Sectional Study in France.

Journal: European journal of pain (London, England)

Published: November 26, 2024

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.

Journal: Journal of medical genetics

Published: April 02, 2024

Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Journal: European journal of human genetics : EJHG

Published: April 02, 2024

Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing-A Multicenter Cohort Study.

Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing-A Multicenter Cohort Study.

Journal: Pediatric neurology

Published: January 04, 2024

Showing 1-12 of 77

Last Updated: 09/26/2026