Publications by authors named "Pascale Richard"

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Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.
Gorka Fernández-Eulate, Cyril Gitiaux, Simone Thiele, Heinz Jungbluth, Anna Potulska-Chromik, Pascale Richard

Brain· December 2025

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Titin-related familial dilated cardiomyopathy: factors associated with disease onset.
Renee Johnson, Robert A Fletcher, Stacey Peters, Monique Ohanian, Magdalena Soka, Richard D Bagnall, Pascale Richard

Eur Heart J· December 2025

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Location of LMNA Variants and Clinical Outcomes in Cardiomyopathy.
Ashwin Bhaskaran, Rabah Ben Yaou, Adam S Helms, Abdallah Fayssoil, Pascale Richard

JAMA Cardiol· September 2025

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Family history of sudden cardiac death as a risk marker for ventricular arrhythmias in laminopathies.
Gauthier Giordano, Julie Proukhnitzky, Frédéric Fer, Adrien Bloch, Marine Thuillot, Pascale Richard

Europace· September 2025

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Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosis.
Aurélien Palmyre, Fairouz Koraichi, Flavie Ader, Erwan Donal, Céline Bordet, Richard Isnard, Pascale Richard

Orphanet J Rare Dis· June 2025

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-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.
Marie Bahout, Gianmarco Severa, Emna Kamoun, Françoise Bouhour, Antoine Pegat, Pascale Richard

J Neurol Neurosurg Psychiatry· April 2025

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Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype-Phenotype Correlation and Consequences in Genetic Counseling.
Marie Massier, Pascal de Groote, Erwan Donal, Isabelle Magnin-Poull, Christine Coubes, Pascale Richard

Clin Genet· April 2025

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Familial cardiac laminopathy with predominant atrial involvement: a case series of a family with mutation.
Andreas Müssigbrodt, Romain Vergier, Maria Herrera Bethencourt, Astrid Monfort, Jocelyn Inamo, Pascale Richard

Eur Heart J Case Rep· April 2025

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Systematic analysis of SCN5A variants associated with inherited cardiac diseases.
Alexis Hermida, Guillaume Jedraszak, Flavie Ader, Isabelle Denjoy, Véronique Fressart, Pascale Richard

Heart Rhythm· March 2025

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Gene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants.
Alexis Hermida, Flavie Ader, Gilles Millat, Guillaume Jedraszak, Louis Vogel, Pascale Richard

Circ Heart Fail· March 2025

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Frequencies and causes of ABO-incompatible red cell transfusions in France, Germany and the United Kingdom.
Aline Mirrione-Savin, Hengameh Aghili Pour, Nicola Swarbrick, Susanne Müller, Caroline Bacquet, Pascale Richard, Richard Schäfer

Br J Haematol· February 2025

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Clinical impact of genetic testing in a large cohort of pediatric cardiomyopathies.
Flavie Ader, Neil Derridj, Anne Claire Brehin, Olivia Domanski, Jean Benoit Baudelet, Pascale Richard

Int J Cardiol· January 2025

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Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Julian Theuriet, Marion Masingue, Anthony Behin, Ana Ferreiro, Guillaume Bassez, Pascale Richard

Brain· November 2024

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[Interpretation of results from high-throughput sequencing for genetic diseases: implementation of national homogenization in France].
Svetlana Gorokhova, Cécile Rouzier, Cécile Acquaviva-Bourdain, Stéphanie Baert-Desurmont, Sandrine Caputo, Pascale Richard

Med Sci (Paris)· October 2024

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Evaluation of assays for nucleic acid testing for the prevention of chikungunya and dengue virus transmission by blood transfusion.
Pierre Gallian, Isabelle Dupont, Marjorie Lacoste, Nadège Brisbarre, Christine Isnard, Pascale Richard

Transfusion· August 2024

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Prediction of Positive Genetic Testing for Arrhythmogenic Left Ventricular Cardiomyopathy.
Youssef Ed Demri, Clarisse Billon, Mohamed El Hachmi, Mohamed Dembélé, Albert Hagège, Pascale Richard

Circ Genom Precis Med· August 2024

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Syphilis testing in blood donors, France, 2007 to 2022.
Syria Laperche, Claire Sauvage, Sophie Le Cam, Florence Lot, Lucile Malard, Pascale Richard

Euro Surveill· August 2024

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Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.
Flavie Ader, Guillaume Jedraszak, Alexandre Janin, Clarisse Billon, Nathalie Roux Buisson, Pascale Richard

Clin Genet· June 2024

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Implementation of amotosalen plus ultraviolet A-mediated pathogen reduction for all platelet concentrates in France: Impact on the risk of transfusion-transmitted infections.
Pascale Richard, Elodie Pouchol, Imad Sandid, Laurent Aoustin, Caroline Lefort

Vox Sang· March 2024

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DNA-pools targeted-sequencing as a robust cost-effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosis.
Claire Perret, Carole Proust, Ulrike Esslinger, Flavie Ader, Jan Haas, Richard Isnard, Pascale Richard

Clin Genet· February 2024

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NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.
Alexis Hermida, Flavie Ader, Gilles Millat, Guillaume Jedraszak, Phillipe Maury, Pascale Richard

Circ Genom Precis Med· February 2024

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Prevalence and Significance of Rare Genetic Variants in in Inherited Cardiac Diseases.
Alexis Hermida, Flavie Ader, Guillaume Jedraszak, Guillaume Viboud, Véronique Fressart, Pascale Richard

Circ Genom Precis Med· February 2024

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International Forum on Blood Donation in Individuals with Current, Past or Germline Predisposition to Malignancy: Summary.
Diva Baggio, Lucy C Fox, Erica M Wood, Robby Nur Aditya, Mindy Goldman, Pascale Richard

Vox Sang· December 2023

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International Forum on Blood Donation in Individuals with Current, Past or Germline Predisposition to Malignancy: Responses.
Diva Baggio, Lucy C Fox, Erica M Wood, Robby Nur Aditya, Mindy Goldman, Pascale Richard

Vox Sang· December 2023

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Human immunodeficiency virus, hepatitis C virus and hepatitis B virus incidence in blood donors from 2000 to 2020 in France: Trends and lessons from haemovigilance surveillance.
Syria Laperche, Claire Sauvage, Pierre Gallian, Saadia Jbilou, Elodie Pouchol, Pascale Richard

Vox Sang· October 2023

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