Florence Riccardi

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of <i>ANKRD11</i>

Alice Goldenberg, Florence Riccardi, Aude Tessier et al. · American Journal of Medical Genetics Part A · 2016 · 85 citations

Developmental Anomaly, Developmental Biology, Molecular Findings +13

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst

Cécile Mignon‐Ravix, Mathieu Milh, Charlotte Sophia Kaiser et al. · Human Mutation · 2018 · 46 citations

Uba5 Protein, Genetics, Disease Gene Identification +18

Immunomodulatory Drugs Exert Anti-Leukemia Effects in Acute Myeloid Leukemia by Direct and Immunostimulatory Activities

Aude Le Roy, Thomas Prébet, Rémy Castellano et al. · Frontiers in Immunology · 2018 · 32 citations · Full text

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Maria Iqbal, Reza Maroofian, Büşranur Çavdarlı et al. · Genetics in Medicine · 2021 · 26 citations · Full text

Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients

Théo Charnay, Véronique Blanck, Mathieu Cérino et al. · Genetics in Medicine · 2021 · 19 citations · Full text

Epidemiology, Large French Series, Genetic Epidemiology +5