Publications by authors named "Emmanuelle Ginglinger"

Claim this Profile
deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.
Marion Lesieur-Sebellin, Kristen Wigby, Elise Schaefer, Aurélie Gouronc, Nicolas Chatron, Emmanuelle Ginglinger

J Med Genet· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.
Yordi-Michaël Bouhatous, Pauline Arnaud, Guillaume Jondeau, Dominique Bonneau, Frédéric Rouleau, Emmanuelle Ginglinger

J Med Genet· August 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Systematic analysis of SCN5A variants associated with inherited cardiac diseases.
Alexis Hermida, Guillaume Jedraszak, Flavie Ader, Isabelle Denjoy, Véronique Fressart, Emmanuelle Ginglinger

Heart Rhythm· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.
Médéric Jeanne, Nathalie Ronce, Solène Remizé, Stéphanie Arpin, Geneviève Baujat, Emmanuelle Ginglinger

J Med Genet· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing-A Multicenter Cohort Study.
Sarah Baer, Audrey Schalk, Marguerite Miguet, Élise Schaefer, Salima El Chehadeh, Emmanuelle Ginglinger

Pediatr Neurol· October 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.
Didier Bessis, Anne-Claire Bursztejn, Fanny Morice-Picard, Yline Capri, Sébastien Barbarot, Emmanuelle Ginglinger

J Eur Acad Dermatol Venereol· September 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz, , Emmanuelle Ginglinger

Mol Genet Genomic Med· January 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
-
-related disorder: phenotypic and molecular spectrum.
Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Emmanuelle Ginglinger

J Med Genet· October 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.
Abdelkader Heddar, Cagri Ogur, Sabrina Da Costa, Inès Braham, Line Billaud-Rist, Emmanuelle Ginglinger

EBioMedicine· October 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Xiangbin Jia, Shujie Zhang, Senwei Tan, Bing Du, Mei He, Emmanuelle Ginglinger

Sci Adv· August 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Functional classification of ATM variants in ataxia-telangiectasia patients.
Alice Fiévet, Dorine Bellanger, Guillaume Rieunier, Catherine Dubois d'Enghien, Julia Sophie, Emmanuelle Ginglinger

Hum Mutat· October 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Expanding the clinical spectrum of recessive truncating mutations of to a Bohring-Opitz-like phenotype.
Ange-Line Bruel, Stefania Bigoni, Joanna Kennedy, Margo Whiteford, Chris Buxton, Emmanuelle Ginglinger

J Med Genet· December 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
Christèle Dubourg, Wilfrid Carré, Houda Hamdi-Rozé, Charlotte Mouden, Joëlle Roume, Emmanuelle Ginglinger

Hum Mutat· December 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
Megana K Prasad, Véronique Geoffroy, Serge Vicaire, Bernard Jost, Michael Dumas, Emmanuelle Ginglinger

J Med Genet· February 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Graciana Jaureguiberry, Muriel De la Dure-Molla, David Parry, Mickael Quentric, Nina Himmerkus, Emmanuelle Ginglinger

Nephron Physiol· October 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis