Florence RICCARDI

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Publications

Publications

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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 Altuzarra et al.

Epilepsia, 2025, 66 (8), pp.e158-e168. ⟨10.1111/epi.18495⟩

Article dans une revue hal-05265633v1
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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 Arnaud et al.

European Journal of Neurology, 2025, 32 (8), pp.e70324. ⟨10.1111/ene.70324⟩

Article dans une revue hal-05235904v1
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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 Daquin et al.

Epilepsia Open, 2025, 10 (5), pp.1605-1616. ⟨10.1002/epi4.70126⟩

Article dans une revue hal-05349507v1
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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 Schneider et al.

European Journal of Human Genetics, 2025, 33 (7), pp.860-869. ⟨10.1038/s41431-025-01843-8⟩

Article dans une revue hal-05534916v1
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Clinical and molecular characterization of patients with YWHAG ‐related epilepsy

Valentina Cetica , Tiziana Pisano , Gaetan Lesca , Dana Marafi , Laura Licchetta et al.

Epilepsia, 2024, 65 (5), pp.1439-1450. ⟨10.1111/epi.17939⟩

Article dans une revue hal-04668694v1
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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‐toth et al.

Epilepsia, 2023, ⟨10.1111/epi.17603⟩

Article dans une revue hal-04072437v1
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Loss of NDST1 N -sulfotransferase activity is associated with autosomal recessive intellectual disability

Elham Khosrowabadi , Cécile Mignon-Ravix , Florence Riccardi , Pierre Cacciagli , Béatrice Desnous et al.

Human Molecular Genetics, 2023, ⟨10.1093/hmg/ddad203⟩

Article dans une revue hal-04404827v1
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TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype

Mario Abaji , Cecile Mignon-Ravix , Svetlana Gorokhova , Pierre Cacciagli , Jeremie Mortreux et al.

Journal of Medical Genetics, 2023, ⟨10.1136/jmg-2022-108677⟩

Article dans une revue hal-04254101v1
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L’examen des oreilles en anténatal : quand, comment et pourquoi ?

E. Lesieur , Florence Riccardi , J.-P. Bault , J.-M. Levaillant , J. Torrents et 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 Cerqueira et al.

European Journal of Human Genetics, 2022, 30 (3), pp.252-255. ⟨10.1038/s41431-021-01019-0⟩

Article dans une revue hal-03678848v1
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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 Devooght et 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 Michaud et al.

Genetics in Medicine, 2021, 23 (10), pp.2003-2004. ⟨10.1038/s41436-021-01208-8⟩

Article dans une revue hal-03403531v1
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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 Field et al.

Genetics in Medicine, 2021, ⟨10.1038/s41436-021-01260-4⟩

Article dans une revue hal-03322569v1
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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 Bastaraud et al.

European Journal of Human Genetics, 2021, ⟨10.1038/s41431-021-00821-0⟩

Article dans une revue hal-03149040v1
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Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients

Théo Charnay , Véronique Blanck , Mathieu Cerino , Marc Bartoli , Florence Riccardi et al.

Genetics in Medicine, 2021, 23 (8), pp.1574 - 1577. ⟨10.1038/s41436-021-01164-3⟩

Article dans une revue hal-03667258v1
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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
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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 Rawson et al.

Orphanet Journal of Rare Diseases, 2020, 15, ⟨10.1186/s13023-020-1349-1⟩

Article dans une revue hal-05290780v1
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A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports

Mark Gorokhov , Mathieu Cerino , Jeremie Mortreux , Florence Riccardi , Nicolas Lévy et 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 Riccardi et 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 Riccardi et al.

Human Mutation, 2018, 39 (7), pp.934-938. ⟨10.1002/humu.23534⟩

Article dans une revue hal-01874770v1
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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 Riccardi et 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. Chaussenot et 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 Busa et 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