Madame Florence RICCARDI / Docteur

Production scientifique

• NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant
  Epilepsia, 2023
  Cécile Mignonravix, Florence Riccardi, Géraldine Daquin, Pierre Cacciagli, Sylvie Lamoureuxtoth, Laurent Villard, Nathalie Villeneuve, Florence Molinari
  https://amu.hal.science/hal-04072437/document
  
• TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype
  Journal of Medical Genetics, 2023
  Mario Abaji, Cecile Mignon-Ravix, Svetlana Gorokhova, Pierre Cacciagli, Jeremie Mortreux, Florence Molinari, Brigitte Chabrol, Sabine Sigaudy, Laurent Villard, Florence Riccardi
  
  
• Diagnostic dune maladie inflammatoire rare et sévère de lintestin chez un nourrisson présentant des ulcérations péri-orificielles
  Annales de Pathologie, 2022
  Alexandre Bardet, Florence Riccardi, Julia Torrents, Françoise Capasso, Marc-Antoine Devooght, Christophe Buffat, Alexandre Fabre, Marie-Dominique Piercecchi-Marti, Clémence Delteil
  https://amu.hal.science/hal-04039514/document
  
• Lexamen des oreilles en anténatal: quand, comment et pourquoi?
  Gynécologie Obstétrique Fertilité & Sénologie, 2022
  E. Lesieur, Florence RICCARDI, J.-P. Bault, J.-M. Levaillant, J. Torrents, A. Paternostre, G. Couly, E. Quarello
  https://amu.hal.science/hal-04045447/document
  
• The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community
  European Journal of Human Genetics, 2022
  Florence Riccardi, Ruta Marcinkute, Celia Azevedo Soares, Patricia Stefana Calapod, Juliana Miranda Cerqueira, Elena Avram, Can Ding
  
  
• Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
  Genetics in Medicine, 2021
  Maria Iqbal, Reza Maroofian, Büranur Çavdarl, Florence Riccardi, Michael Field, Siddharth Banka, Dalal Bubshait, Yun Li, Jozef Hertecant, Shahid Baig, David Dyment, Stephanie Efthymiou, Uzma Abdullah, Ehtisham Makhdoom, Zafar Ali, Tobias Scherf de Almeida, Florence Molinari, Cécile Mignon-Ravix, Brigitte Chabrol, Jayne Antony, Lesley Ades, Alistair Pagnamenta, Adam Jackson, Sofia Douzgou, J Ambrose, P Arumugam, M Bleda, F Boardman-Pretty, C Boustred, H Brittain, M Caulfield, G Chan, T Fowler, A Giess, A Hamblin, S Henderson, T Hubbard, R Jackson, L Jones, D Kasperaviciute, M Kayikci, A Kousathanas, L Lahnstein, S Leigh, I Leong, F Lopez, F Maleady-Crowe, L Moutsianas, M Mueller, N Murugaesu, A Need, P Odonovan, C Odhams, C Patch, D Perez-Gil, M Pereira, J Pullinger, T Rahim, A Rendon, T Rogers, K Savage, K Sawant, R Scott, A Siddiq, A Sieghart, S Smith, A Sosinsky, A Stuckey, M Tanguy, E Thomas, S Thompson, A Tucci, E Walsh, M Welland, E Williams, K Witkowska, S Wood, Christian Beetz, Vasiliki Karageorgou, Barbara Vona, Aboulfazl Rad, Jamshaid Baig, Tipu Sultan, Javeria Alvi, Shazia Maqbool, Fatima Rahman, Mehran Toosi, Farah Ashrafzadeh, Shima Imannezhad, Ehsan Karimiani, Yasra Sarwar, Sheraz Khan, Muhammad Jameel, Angelika Noegel, Birgit Budde, Janine Altmüller, Susanne Motameny, Wolfgang Höhne, Henry Houlden, Peter Nürnberg, Bernd Wollnik, Laurent Villard, Fowzan Alkuraya, Matthew Osmond, Muhammad Hussain, Gökhan Yigit
  https://hal.archives-ouvertes.fr/hal-03322569/document
  
• Correspondence on «De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females» by Polla et al.
  Genetics in Medicine, 2021
  Florence Riccardi, Alexandre Astier, Margot Grisval, Arnaud Maillard, Vincent Michaud, Catherine Badens, Christopher T. Gordon, Aurelien Trimouille, Laurence Faivre, Jeanne Amiel, Sabine Sigaudy, Svetlana Gorokhova
  
  
• Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
  European Journal of Human Genetics, 2021
  Sandra Whalen, Marie Shaw, Cyril Mignot, Delphine Héron, Sandra Chantot Bastaraud, Cecile Cieuta Walti, Jan Liebelt, Frances Elmslie, Patrick Yap, Jane Hurst, Elisabeth Forsythe, Brian Kirmse, Jillian Ozmore, Alessandro Mauro Spinelli, Olga Calabrese, Thierry Billette de Villemeur, Anne Claude Tabet, Jonathan Levy, Agnes Guet, Manoëlle Kossorotoff, Benjamin Kamien, Jenny Morton, Anne Mccabe, Elise Brischoux-Boucher, Annick Raas-Rothschild, Antonella Pini, Renée Carroll, Jessica Hartley, Patrick Frosk, Anne Slavotinek, Kristen Truxal, Carroll Jennifer, Annelies Dheedene, Hong Cui, Vishal Kumar, Glen Thomson, Florence Riccardi, Jozef Gecz, Laurent Villard
  https://hal-amu.archives-ouvertes.fr/hal-03149040/document
  
• Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients
  Genetics in Medicine, 2021
  Théo Charnay, Véronique Blanck, Mathieu Cerino, Florence Riccardi, Nathalie Bonello-Palot, Christophe Pécheux, Karine Nguyen, Marc Bartoli, Nicolas Lévy, Svetlana Gorokhova, Martin Krahn
  
  
• Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients
  Genetics in Medicine, 2021
  Théo Charnay, Véronique Blanck, Mathieu Cerino, Marc Bartoli, Florence Riccardi, Nathalie Bonello-Palot, Christophe Pécheux, Karine Nguyen, Nicolas Lévy, Svetlana Gorokhova, Martin Krahn
  https://hal.science/hal-03667258/document
  
• A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports
  Scientific Reports, 2020
  Mark Gorokhov, Mathieu Cerino, Jeremie Mortreux, Florence Riccardi, Nicolas Lévy, Marc Bartoli, Martin Krahn, Svetlana Gorokhova
  https://www.hal.inserm.fr/inserm-02749937/document
  
• Extension of the phenotypic spectrum of GLE1 related disorders to a mild congenital form resembling congenital myopathy
  Molecular Genetics & Genomic Medicine, 2020
  Mathieu Cerino, Chloé Di Meglio, Francesca Albertini, Frédérique Audic, Florence Riccardi, Christophe Boulay, Nicole Philip, Marc Bartoli, Nicolas Levy, Martin Krahn, Brigitte Chabrol
  
  
• Genetics of neonatal onset epilepsies: An overview
  Revue Neurologique, 2020
  Mathieu Milh, Florence Riccardi, J. Denis
  https://hal-amu.archives-ouvertes.fr/hal-03222897/document
  
• Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst
  Human Mutation, 2018
  Cecile Mignon-Ravix, Mathieu Milh, Charlotte Sophia Kaiser, Jens Daniel, Florence Riccardi, Pierre Cacciagli, Majdi Nagara, Tiffany Busa, Eva Liebau, Laurent Villard
  
  
• Caractérisation clinique et moléculaire des Encéphalopathies Épileptiques Précoces avec EEG "burst-suppression": à propos d'une cohorte de 103 patients
  2018
  Florence Riccardi
  https://dumas.ccsd.cnrs.fr/dumas-02982265/document
  
• Immunomodulatory Drugs Exert Anti-Leukemia Effects in Acute Myeloid Leukemia by Direct and Immunostimulatory Activities
  Frontiers in Immunology, 2018
  Aude Le Roy, Thomas Prebet, Remy Castellano, Armelle Goubard, Florence Riccardi, Cyril Fauriat, Samuel Granjeaud, Audrey Benyamine, Celine Castanier, Florence Orlanducci, Amira Ben Amara, Frederic Pont, Jean-Jacques Fournie, Yves Collette, Jean-Louis Mege, Norbert Vey, Daniel Olive
  https://hal.archives-ouvertes.fr/hal-01791593/document
  
• Clinical and Molecular Findings in 39 Patients with KBG Syndrome Caused by Deletion or Mutation of ANKRD11
  American Journal of Medical Genetics Part A, 2016
  Alice Goldenberg, Florence Riccardi, Aude Tessier, Rolph Pfundt, Tiffany Busa, Pierre Cacciagli, Yline Capri, Charles Coutton, Andrée Delahaye-Duriez, Thierry Frébourg, Vincent Gatinois, Anne-Marie Guerrot, David Geneviève, Francois Lecoquierre, Aurelia Jacquette, Philippe Khau van Kien, Bruno Leheup, Sandrine Marlin, Alain Verloes, Vincent Michaud, Gwenaël Nadeau, Cyril Mignot, Philippe Parent, Massimiliano Rossi, Annick Toutain, Elise Schaefer, Christel Thauvin-Robinet, Lionel van Maldergem, Julien Thevenon, Véronique Satre, Laurence Perrin, Catherine Vincent-Delorme, Arthur Sorlin, Chantal Missirian, Laurent Villard, Julien Mancini, Pascale Saugier-Veber, Nicole Philip