Florence RICCARDI

Publications

Article dans une revue (23)

Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcome Clément Pierret,Florence Riccardi,Julien Neveu,Marie Alesandrini,Cécilia Altuzarraet al. Epilepsia, 2025, 66 (8), pp.e158-e168. ⟨10.1111/epi.18495⟩ Article dans une revue hal-05265633v1
The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis Jean-Madeleine de Sainte Agathe,Pauline Monin,Florence Riccardi,Caroline Nava,Lionel Arnaudet al. European Journal of Neurology, 2025, 32 (8), pp.e70324. ⟨10.1111/ene.70324⟩ Article dans une revue hal-05235904v1
Long‐term outcomes of a cohort of patients with pharmacoresistant neonatal epilepsy and negative brain MRI Thibault Beretti,William Rozalen,Laurent Villard,Florence Riccardi,Geraldine Daquinet al. Epilepsia Open, 2025, 10 (5), pp.1605-1616. ⟨10.1002/epi4.70126⟩ Article dans une revue hal-05349507v1
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations Solomon S Merepa,Linda M Reis,Alejandra Damián,Tanya Bardakjian,Adele Schneideret al. European Journal of Human Genetics, 2025, 33 (7), pp.860-869. ⟨10.1038/s41431-025-01843-8⟩ Article dans une revue hal-05534916v1
Clinical and molecular characterization of patients with YWHAG ‐related epilepsy Valentina Cetica,Tiziana Pisano,Gaetan Lesca,Dana Marafi,Laura Licchettaet al. Epilepsia, 2024, 65 (5), pp.1439-1450. ⟨10.1111/epi.17939⟩ Article dans une revue hal-04668694v1
NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant Cécile Mignon‐ravix,Florence Riccardi,Géraldine Daquin,Pierre Cacciagli,Sylvie Lamoureux‐tothet al. Epilepsia, 2023, ⟨10.1111/epi.17603⟩ Article dans une revue hal-04072437v1
Loss of NDST1 N -sulfotransferase activity is associated with autosomal recessive intellectual disability Elham Khosrowabadi,Cécile Mignon-Ravix,Florence Riccardi,Pierre Cacciagli,Béatrice Desnouset al. Human Molecular Genetics, 2023, ⟨10.1093/hmg/ddad203⟩ Article dans une revue hal-04404827v1
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype Mario Abaji,Cecile Mignon-Ravix,Svetlana Gorokhova,Pierre Cacciagli,Jeremie Mortreuxet al. Journal of Medical Genetics, 2023, ⟨10.1136/jmg-2022-108677⟩ Article dans une revue hal-04254101v1
L’examen des oreilles en anténatal : quand, comment et pourquoi ? E. Lesieur,Florence Riccardi,J.-P. Bault,J.-M. Levaillant,J. Torrentset al. Gynécologie Obstétrique Fertilité & Sénologie, 2022, 50 (9), pp.624-637. ⟨10.1016/j.gofs.2022.05.005⟩ Article dans une revue hal-04045447v1
The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community Florence Riccardi,Ruta Marcinkute,Celia Azevedo Soares,Patricia Stefana Calapod,Juliana Miranda Cerqueiraet al. European Journal of Human Genetics, 2022, 30 (3), pp.252-255. ⟨10.1038/s41431-021-01019-0⟩ Article dans une revue hal-03678848v1
Diagnostic d’une maladie inflammatoire rare et sévère de l’intestin chez un nourrisson présentant des ulcérations péri-orificielles Alexandre Bardet,Florence Riccardi,Julia Torrents,Françoise Capasso,Marc-Antoine Devooghtet al. Annales de Pathologie, 2022, 42 (5), pp.432-437. ⟨10.1016/j.annpat.2021.11.007⟩ Article dans une revue hal-04039514v1
Correspondence on « De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females » by Polla et al. Florence Riccardi,Alexandre Astier,Margot Grisval,Arnaud Maillard,Vincent Michaudet al. Genetics in Medicine, 2021, 23 (10), pp.2003-2004. ⟨10.1038/s41436-021-01208-8⟩ Article dans une revue hal-03403531v1
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies Maria Iqbal,Reza Maroofian,Büşranur Çavdarli,Florence Riccardi,Michael Fieldet al. Genetics in Medicine, 2021, ⟨10.1038/s41436-021-01260-4⟩ Article dans une revue hal-03322569v1
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants Sandra Whalen,Marie Shaw,Cyril Mignot,Delphine Héron,Sandra Chantot Bastaraudet al. European Journal of Human Genetics, 2021, ⟨10.1038/s41431-021-00821-0⟩ Article dans une revue hal-03149040v1
Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients Théo Charnay,Véronique Blanck,Mathieu Cerino,Marc Bartoli,Florence Riccardiet al. Genetics in Medicine, 2021, 23 (8), pp.1574 - 1577. ⟨10.1038/s41436-021-01164-3⟩ Article dans une revue hal-03667258v1
Genetics of neonatal onset epilepsies: An overview Mathieu Milh,Florence Riccardi,J. Denis Revue Neurologique, 2020, 176 (1-2), pp.2-9. ⟨10.1016/j.neurol.2019.01.396⟩ Article dans une revue hal-03222897v1
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders Michael Smith,Elizabeth Alexander,Ruta Marcinkute,Dorica Dan,Myfanwy Rawsonet al. Orphanet Journal of Rare Diseases, 2020, 15, ⟨10.1186/s13023-020-1349-1⟩ Article dans une revue hal-05290780v1
A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports Mark Gorokhov,Mathieu Cerino,Jeremie Mortreux,Florence Riccardi,Nicolas Lévyet al. Scientific Reports, 2020, 10 (1), pp.6247. ⟨10.1038/s41598-020-63079-4⟩ Article dans une revue inserm-02749937v1
Extension of the phenotypic spectrum of GLE1 ‐related disorders to a mild congenital form resembling congenital myopathy Mathieu Cerino,Chloé Di Meglio,Francesca Albertini,Frédérique Audic,Florence Riccardiet al. Molecular Genetics & Genomic Medicine, 2020, 8 (8), ⟨10.1002/mgg3.1277⟩ Article dans une revue hal-03222418v1
Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst Cecile Mignon-Ravix,Mathieu Milh,Charlotte Sophia Kaiser,Jens Daniel,Florence Riccardiet al. Human Mutation, 2018, 39 (7), pp.934-938. ⟨10.1002/humu.23534⟩ Article dans une revue hal-01874770v1
Immunomodulatory Drugs Exert Anti-Leukemia Effects in Acute Myeloid Leukemia by Direct and Immunostimulatory Activities Aude Le Roy,Thomas Prebet,Remy Castellano,Armelle Goubard,Florence Riccardiet al. Frontiers in Immunology, 2018, 9, pp.977. ⟨10.3389/fimmu.2018.00977⟩ Article dans une revue hal-01791593v1
Sweet heart. Hypertrophic cardiomyopathy in a 49-year-old man Audrey Benyamine,F. Riccardi,S. Coze,A. Jacquier,A. Chaussenotet al. La Revue de Médecine Interne, 2016, 37 (11), pp.779-781. ⟨10.1016/j.revmed.2016.06.007⟩ Article dans une revue istex hal-01453274v1
Clinical and Molecular Findings in 39 Patients with KBG Syndrome Caused by Deletion or Mutation of ANKRD11 Alice Goldenberg,Florence Riccardi,Aude Tessier,Rolph Pfundt,Tiffany Busaet al. American Journal of Medical Genetics Part A, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩ Article dans une revue istex hal-01469066v1

Mémoire d'étudiant (1)

Caractérisation clinique et moléculaire des Encéphalopathies Épileptiques Précoces avec EEG &quot;burst-suppression&quot;: à propos d'une cohorte de 103 patients Florence Riccardi Sciences du Vivant [q-bio]. 2018 Mémoire d'étudiant dumas-02982265v1