Emmanuelle Ginglinger

Mulhouse, France

Last Updated: 09/26/2026

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Found 18 publications

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

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

Journal: Journal of medical genetics
Published: January 23, 2025

Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.

Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.

Journal: Journal of medical genetics
Published: August 22, 2024

Systematic analysis of SCN5A variants associated with inherited cardiac diseases.

Systematic analysis of SCN5A variants associated with inherited cardiac diseases.

Journal: Heart rhythm
Published: June 06, 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

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

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Journal: Molecular genetics & genomic medicine
Published: August 03, 2023

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

Journal: Science advances
Published: August 17, 2022

ARF1-related disorder: phenotypic and molecular spectrum.

ARF1-related disorder: phenotypic and molecular spectrum.

Journal: Journal of medical genetics
Published: August 09, 2022

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.

Journal: Journal of medical genetics
Published: August 08, 2022

The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients.

The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients.

Journal: Digestive diseases and sciences
Published: May 06, 2022

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.

Journal: EBioMedicine
Published: February 09, 2022
Showing 1-12 of 18

Last Updated: 09/26/2026