Author

Nathalie Roux-Buisson

Observed names: N Roux Buisson, N Roux-Buisson, N. Roux-Buisson, N. Roux‐Buisson, NATHALIE ROUX‐BUISSON, Nathalie Roux Buisson, Nathalie Roux-buisson, Nathalie Roux‐Buisson, Nathalie Roux‐buisson, ROUX-BUISSON, Nathalie, Roux-Buisson N, Roux-Buisson, N, Roux-Buisson, Nathalie

Observed institutions: Hôpital Necker-Enfants Malades, Centre National de la Recherche Scientifique, Université de Bordeaux, Inserm, Université Joseph Fourier, Université de Lille, Centre Hospitalier Universitaire de Grenoble, Centre Hospitalier Universitaire de Bordeaux, Assistance Publique – Hôpitaux de Paris, Hôpital Lariboisière, Hôpital Cardiologique du Haut-Lévêque, Translational Innovation in Medicine and Complexity, Grenoble Institute of Neurosciences, Hôpital Albert Michallon, Université Paris Diderot, Marqueurs cardiovasculaires en situation de stress, Université de Rouen Normandie, Université Grenoble Alpes

ORCID: 0000-0002-3005-1373

Observed ORCID: 0000-0002-3005-1373

OpenAlex ID: A5107842384

Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia

2009 · Meiso Hayashi, Isabelle Denjoy, et al. · Circulation · 564

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

2012 · Nathalie Roux-Buisson, Marine Cacheux, et al. · Human Molecular Genetics · 267

Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice

2010 · Veronique Fressart, Guillaume Duthoit, et al. · EP Europace · 236

The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probands

2012 · Miyuki Hayashi, Isabelle Denjoy, et al. · EP Europace · 79

Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: Results of a systematic screening

2014 · Nathalie Roux-Buisson, Estelle Gandjbakhch, et al. · Heart Rhythm · 69

PFMG2025–integrating genomic medicine into the national healthcare system in France

2025 · Caroline Abadie, Aldja Abderrahmane, et al. · The Lancet Regional Health - Europe · 57

New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene

2015 · CAROLINE ROORYCK, FLORENCE KYNDT, et al. · Journal of Cardiovascular Electrophysiology · 55

International Triadin Knockout Syndrome Registry

2019 · Daniel J. Clemens, David J. Tester, et al. · Circulation Genomic and Precision Medicine · 49

Identification of variants of the ryanodine receptor type 1 in patients with exertional heat stroke and positive response to the malignant hyperthermia in vitro contracture test

2016 · N Roux-Buisson, N Monnier, et al. · British Journal of Anaesthesia · 48

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome

2017 · N. Witting, P. Laforêt, et al. · Acta Neurologica Scandinavica · 41

Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction

2016 · F. Ramond, A. Janin, et al. · Clinical Genetics · 39

Exertional Heat Stroke and Susceptibility to Malignant Hyperthermia in an Athlete: Evidence for a Link?

2015 · Mathias Poussel, Philippe Guerci, et al. · Journal of Athletic Training · 37

Exon Skipping as a Therapeutic Strategy Applied to an RYR1 Mutation with Pseudo-Exon Inclusion Causing a Severe Core Myopathy

2013 · John Rendu, Julie Brocard, et al. · Human Gene Therapy · 36

Comparative analysis of the VIDAS Toxo IgG IV assay in the detection of antibodies to Toxoplasma gondii

2005 · Nathalie Roux-Buisson, Hélène Fricker-Hidalgo, et al. · Diagnostic Microbiology and Infectious Disease · 27

Interplay between Triadin and Calsequestrin in the Pathogenesis of CPVT in the Mouse

2019 · Marine Cacheux, Jérémy Fauconnier, et al. · Molecular Therapy · 26

Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants – identification of 11 novel mutations inCYBB

2020 · M Mollin, S Beaumel, et al. · Clinical & Experimental Immunology · 24

Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq

2021 · Faris Ghalib Bakri, Michelle Mollin, et al. · Frontiers in Immunology · 20

Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein

2015 · Marine Cacheux, Ariane Blum, et al. · Journal of Neuromuscular Diseases · 20

Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring

2010 · N. Roux-Buisson, G. Egea, et al. · EP Europace · 20

Evidence for genetic heterogeneity in Carvajal syndrome

2012 · Nancy Nehme, Rajae El Malti, et al. · Cell and Tissue Research · 18

Variations in the TRPV1 gene are associated to exertional heat stroke

2020 · Caroline Bosson, John Rendu, et al. · Journal of science and medicine in sport · 16

Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management

2011 · Nathalie Roux-Buisson, John Rendu, et al. · Human Mutation · 16

276th ENMC International Workshop: recommendations on optimal diagnostic pathway and management strategy for patients with acute rhabdomyolysis worldwide. 15th-17th March 2024, Hoofddorp, The Netherlands

2025 · Nick Kruijt, Pascal Laforet, et al. · Neuromuscular Disorders · 14

Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy

2024 · Flavie Ader, Guillaume Jedraszak, et al. · Clinical Genetics · 10

Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome

2021 · Pauline Le Tanno, Mathilde Folacci, et al. · Frontiers in Genetics · 7

Works count: 71

Citation count: 1,818

H-index: 19

I10-index: 24