Marion Gerard

Caen, France

Last Updated: 09/26/2026

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Found 75 publications

Long-read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms.

Long-read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms.

Journal: Epilepsia
Published: February 25, 2025

Prevalence and Significance of Rare Genetic Variants in AKAP9 in Inherited Cardiac Diseases.

Prevalence and Significance of Rare Genetic Variants in AKAP9 in Inherited Cardiac Diseases.

Journal: Circulation. Genomic and precision medicine
Published: January 23, 2024

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

Journal: Human genetics
Published: December 14, 2023

Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.

Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: December 13, 2023

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.

Journal: Journal of medical genetics
Published: January 29, 2023

SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.

SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.

Journal: Nature communications
Published: January 25, 2023

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

Journal: European journal of human genetics : EJHG
Published: December 22, 2022

Two RFC1 splicing variants in CANVAS.

Two RFC1 splicing variants in CANVAS.

Journal: Brain : a journal of neurology
Published: November 09, 2022

Structural and functional analysis of retinal vasculature in HANAC syndrome with a novel intronic COL4A1 mutation.

Structural and functional analysis of retinal vasculature in HANAC syndrome with a novel intronic COL4A1 mutation.

Journal: Microvascular research
Published: September 04, 2022

Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.

Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.

Journal: American journal of medical genetics. Part A
Published: August 16, 2022

Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.

Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.

Journal: Epilepsia
Published: February 10, 2022

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Journal: Clinical genetics
Published: October 06, 2021
Showing 1-12 of 75

Last Updated: 09/26/2026