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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.
Article dans une revue
hal-05235904
v1
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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.
Article dans une revue
hal-05349507
v1
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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.
Article dans une revue
hal-05265633
v1
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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.
Article dans une revue
hal-04668694
v1
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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.
Article dans une revue
hal-04072437
v1
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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.
Article dans une revue
hal-04404827
v1
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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.
Article dans une revue
hal-04254101
v1
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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.
Article dans une revue
hal-04045447
v1
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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.
Article dans une revue
hal-03678848
v1
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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.
Article dans une revue
hal-04039514
v1
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10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
Claude Messiaen
,
Caroline Racine
,
Ahlem Khatim
,
Louis Soussand
,
Sylvie Odent
et al.
Article dans une revue
hal-05290398
v1
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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.
Article dans une revue
hal-03403531
v1
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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.
Article dans une revue
hal-03322569
v1
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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.
Article dans une revue
hal-03149040
v1
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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.
Article dans une revue
hal-03667258
v1
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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.
Article dans une revue
hal-05290780
v1
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Genetics of neonatal onset epilepsies: An overview
Mathieu Milh
,
Florence Riccardi
,
J. Denis
Article dans une revue
hal-03222897
v1
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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.
Article dans une revue
inserm-02749937
v1
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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.
Article dans une revue
hal-03222418
v1
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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.
Article dans une revue
hal-01874770
v1
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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.
Article dans une revue
hal-01791593
v1
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Sweet heart. Hypertrophic cardiomyopathy in a 49-year-old man
Audrey Benyamine
,
F. Riccardi
,
S. Coze
,
A. Jacquier
,
A. Chaussenot
et al.
Article dans une revue
hal-01453274
v1
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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.
Article dans une revue
istex
hal-01469066
v1
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