Publications by authors named "Quentin Sabbagh"

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ClinFly: an all-in-one method to translate, de-identify, and summarize medical reports in HPO format.
Lucas W Gauthier, Marjolaine Willems, Nicolas Chatron, Camille Cenni, Pierre Meyer, Quentin Sabbagh

NAR Genom Bioinform· December 2025

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Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Mackenzie A Michell-Robinson, Stefanie Perrier, Samuel Gauthier, Alexa Derksen, Quentin Sabbagh

HGG Adv· October 2025

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DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.
Liselot van der Laan, Karim Karimi, Kathleen Rooney, Mariëlle Alders, Alfredo Brusco, Quentin Sabbagh

Eur J Hum Genet· September 2025

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Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature.
Quentin Sabbagh, Nathalie Ruiz-Pallares, Cassandra Rastin, Jacques Puechberty, Thomas Guignard

Clin Epigenetics· April 2025

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AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia.
Quentin Sabbagh, Natalia Hernandez Poblete, Chloé Angelini, Clément Hersent, Mehdi Benkirane

J Neurol· January 2025

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Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid.
Sadegheh Haghshenas, Audrey Putoux, Jack Reilly, Michael A Levy, Raissa Relator, Quentin Sabbagh

Genet Med· October 2024

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Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report.
Quentin Sabbagh, Marion Larrieux, Anouck Schneider, Corinne Theze, Marie-Claire Vincent

Eur J Hum Genet· July 2024

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Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Quentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, Chloé Trouvé, Jeanne Amiel

Genet Med· January 2024

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Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz, , Quentin Sabbagh

Mol Genet Genomic Med· January 2024

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Germline Mosaicism in : A Pitfall for Genetic Diagnosis, Counseling, and Therapy of Hyper-IgE Syndrome.
Quentin Sabbagh, Jean-David Cohen, Jérémie Mortreux, Laure Raymond, Vanna Geromel

Dermatitis· November 2023

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Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.
Quentin Sabbagh, Mylène Tharreau, Camille Cenni, Elodie Sanchez, Nathalie Ruiz-Pallares

Eur J Med Genet· May 2023

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Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.
Alexandre Janin, Thomas Perouse de Montclos, Karine Nguyen, Emilie Consolino, Gwenael Nadeau, Quentin Sabbagh

Mol Diagn Ther· September 2022

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A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1.
Quentin Sabbagh, Fanny Alkar, Karine Patte, Olivier Prodhomme, Caroline Janel

Eur J Med Genet· June 2022

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The von Willebrand factor stamps plasmatic extracellular vesicles from glioblastoma patients.
Quentin Sabbagh, Gwennan André-Grégoire, Carolina Alves-Nicolau, Aurélien Dupont, Nicolas Bidère

Sci Rep· November 2021

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Vesiclemia: counting on extracellular vesicles for glioblastoma patients.
Quentin Sabbagh, Gwennan Andre-Gregoire, Laetitia Guevel, Julie Gavard

Oncogene· September 2020

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