Profil bibliographique

Renaud Touraine

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231Publications signalées

7238Citations signalées

2Affiliations récentes

Institutions déclarées

Centre Hospitalier Universitaire de Saint-Étienne Université Jean Monnet

Domaines associés

Genetics and Neurodevelopmental DisordersTuberous Sclerosis Complex ResearchGenomic variations and chromosomal abnormalitiesGenomics and Rare DiseasesRNA modifications and cancer

Publications récentes

Accès ouvert 2026 articleOpenAlex

Pathological classification of Fuchs endothelial corneal dystrophy into several types and their relationships with CTG18 .1 expansion repeats

Hanielle Vaitinadapoule, Daria Onitiu, Corantin Maurin, Gauthier Travers et autres

2 citationsThe Journal of Pathology

Accès ouvert 2025 articleOpenAlex

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants

Antoine Delinière, C Mulatier, David Cheillan, Farha Gheurbi et autres

1 citationHeart Rhythm

2025 conference-abstractOpenAlex

Abstract A006: Genetic predisposition discoveries of clinical utility by exome sequencing performed for therapeutic purposes in children with relapsing or refractory cancer in the MAPPYACTS study

Tiphaine Adam de Beaumais, Yahia Adnani, Léa Guerrini‐Rousseau, Samuel Abbou et autres

0 citationsCancer Research

Accès ouvert 2025 preprintOpenAlex

Pathological classification of Fuchs endothelial corneal dystrophy in several types and their relationships with CTG18.1 expansion repeats

Hanielle Vaïtinadapoulé, Daria Onitiu, Corantin Maurin, Gauthier Travers et autres

1 citationmedRxiv

2025 articleOpenAlex

Genotyping methods for Fuchs corneal endothelial dystrophy

Daria Onitiu, Inès Harzallah, Hanielle Vaïtinadapoulé, Frédéric Mascarelli et autres

1 citationJournal Français d Ophtalmologie

2025 articleOpenAlex

Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants

Margaux Serey‐Gaut, Ralyath Balogoun, Laurence Jonard, Geneviève Lina‐Granade et autres

0 citationsHuman Genetics

Accès ouvert 2024 articleOpenAlex

De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling

Caroline Racine, Patrick Callier, Renaud Touraine, Antonio Vitobello et autres

3 citationsAmerican Journal of Medical Genetics Part A

2024 articleOpenAlex

Enfermedades trofoblásticas gestacionales: molas hidatiformes

Pierre‐Adrien Bolze, M. Provost, Jérôme Massardier, Touria Hajri et autres

0 citationsEMC - Ginecología-Obstetricia

Accès ouvert 2024 articleOpenAlex

Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation

Johanna Ranta‐aho, Kevin J. Felice, Per Harald Jonson, J. Sarparanta et autres

3 citationsAnnals of Clinical and Translational Neurology

2024 conference-paperOpenAlex

CREAT_criteria: What have we learned regarding CTD patient epilepsy? A prospective study increatine transporter deficiency (SLC6A8) patients to determine the most relevant outcome measures

Aurore Curie, Lisa Ouss, Fahra Gheurbi, Michaël Pommier et autres

0 citationsHAL (Le Centre pour la Communication Scientifique Directe)

Accès ouvert 2024 articleOpenAlex

Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature

Ralah Alharbi, Anna Suchet-Dechaud, Inès Harzallah, Renaud Touraine et autres

1 citationEuropean Journal of Medical Genetics

Accès ouvert 2024 preprintOpenAlex

Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation

Johanna Ranta‐aho, Kevin J. Felice, Per Harald Jonson, J. Sarparanta et autres

2 citationsmedRxiv

Profil ORCID Notice OpenAlex

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