Quentin Sabbagh

60%
Libre accès
10
Documents
Affiliations actuelles
  • Radboud University Medical Center [Nijmegen] (RadboudUMC)
  • Montpellier University Hospital

Domaines de recherche

Génétique humaine Médecine humaine et pathologie

Publications

Publications

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Comprehensive Genotype-Phenotype Analysis in POLR3-Related Disorders

Mackenzie A Michell-Robinson , Stefanie Perrier , Samuel Gauthier , Alexa Derksen , Quentin Sabbagh et al.
Human Genetics and Genomics Advances, 2025, 6 (4), pp.100481. ⟨10.1016/j.xhgg.2025.100481⟩
Article dans une revue hal-05212266 v1
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AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia

Quentin Sabbagh , Natalia Hernandez Poblete , Chloé Angelini , Clément Hersent , Mehdi Benkirane et al.
Journal of Neurology, 2025, 272, ⟨10.1007/s00415-025-12889-5⟩
Article dans une revue hal-04903904 v1

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 et al.
European Journal of Human Genetics, 2025, ⟨10.1038/s41431-025-01956-0⟩
Article dans une revue hal-05299478 v1
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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 et al.
Genetics in Medicine, 2024, 26 (1), pp.101007. ⟨10.1016/j.gim.2023.101007⟩
Article dans une revue inserm-04957392 v1

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 et al.
Genetics in Medicine, 2024, 26 (10), pp.101226. ⟨10.1016/j.gim.2024.101226⟩
Article dans une revue hal-04810809 v1
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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 , Rami Abou Jamra et al.
Molecular Genetics & Genomic Medicine, 2024, 12 (1), pp.e2363. ⟨10.1002/mgg3.2363⟩
Article dans une revue hal-04567616 v1
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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 et al.
European Journal of Human Genetics, 2024, Online ahead of print. ⟨10.1038/s41431-024-01665-0⟩
Article dans une revue hal-04650919 v1
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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 et al.
European Journal of Medical Genetics, 2023, 66 (5), pp.104733. ⟨10.1016/j.ejmg.2023.104733⟩
Article dans une revue hal-04233668 v1

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 Geromel et al.
Article dans une revue hal-04230540 v1
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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 et al.
European Journal of Medical Genetics, 2022, 65 (6), pp.104495. ⟨10.1016/j.ejmg.2022.104495⟩
Article dans une revue hal-04527529 v1