Quentin Sabbagh MD in Medical Genetics, PhD Candidate in Genomics of Rare Diseases at Radboudumc (Hoischen's lab).

Identifiants chercheurs

IdHAL :

quentin-sabbagh

ORCID :

0000-0003-4600-5387

IdRef :

276870174

Publications

Article dans une revue (11)

Comprehensive Genotype-Phenotype Analysis in POLR3-Related Disorders Mackenzie A Michell-Robinson,Stefanie Perrier,Samuel Gauthier,Alexa Derksen,Quentin Sabbaghet al. Human Genetics and Genomics Advances, 2025, 6 (4), pp.100481. ⟨10.1016/j.xhgg.2025.100481⟩ Article dans une revue hal-05212266v1
AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia Quentin Sabbagh,Natalia Hernandez Poblete,Chloé Angelini,Clément Hersent,Mehdi Benkiraneet al. Journal of Neurology, 2025, 272, ⟨10.1007/s00415-025-12889-5⟩ Article dans une revue hal-04903904v1
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective Liselot van der Laan,Karim Karimi,Kathleen Rooney,Mariëlle Alders,Alfredo Bruscoet al. European Journal of Human Genetics, 2025, ⟨10.1038/s41431-025-01956-0⟩ Article dans une revue hal-05299478v1
ClinFly: an all-in-one method to translate, de-identify, and summarize medical reports in HPO format Lucas Gauthier,Marjolaine Willems,Nicolas Chatron,Camille Cenni,Pierre Meyeret al. NAR Genomics and Bioinformatics, 2025, 7 (4), ⟨10.1093/nargab/lqaf145⟩ Article dans une revue hal-05355901v1
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 Amielet al. Genetics in Medicine, 2024, 26 (1), pp.101007. ⟨10.1016/j.gim.2023.101007⟩ Article dans une revue inserm-04957392v1
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 Relatoret al. Genetics in Medicine, 2024, 26 (10), pp.101226. ⟨10.1016/j.gim.2024.101226⟩ Article dans une revue hal-04810809v1
Lessons from two series by physicians and caregivers' self‐reported data in DDX3X ‐related disorders Valentin Ruault,Pauline Burger,Johanna Gradels-Hauguel,Nathalie Ruiz,Rami Abou Jamraet al. Molecular Genetics & Genomic Medicine, 2024, 12 (1), pp.e2363. ⟨10.1002/mgg3.2363⟩ Article dans une revue hal-04567616v1
Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report Quentin Sabbagh,Marion Larrieux,Anouck Schneider,Corinne Theze,Marie-Claire Vincentet al. European Journal of Human Genetics, 2024, Online ahead of print. ⟨10.1038/s41431-024-01665-0⟩ Article dans une revue hal-04650919v1
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-Pallareset al. European Journal of Medical Genetics, 2023, 66 (5), pp.104733. ⟨10.1016/j.ejmg.2023.104733⟩ Article dans une revue hal-04233668v1
Germline Mosaicism in STAT3 : A Pitfall for Genetic Diagnosis, Counseling, and Therapy of Hyper-IgE Syndrome Quentin Sabbagh,Jean-David Cohen,Jérémie Mortreux,Laure Raymond,Vanna Geromelet al. Dermatitis, 2023, ⟨10.1089/derm.2022.0057⟩ Article dans une revue hal-04230540v1
A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1 Quentin Sabbagh,Fanny Alkar,Karine Patte,Olivier Prodhomme,Caroline Janelet al. European Journal of Medical Genetics, 2022, 65 (6), pp.104495. ⟨10.1016/j.ejmg.2022.104495⟩ Article dans une revue hal-04527529v1