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 · 88 citations

Life Sciences, Genetics, Molecular Genetics +14

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 · 50 citations

Life Sciences, Genetics, Molecular Genetics +17

Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

Michael W. Smith, Elizabeth Alexander, Ruta Marcinkute et al. · Orphanet Journal of Rare Diseases · 2020 · 35 citations · Full text

Computing, Health Informatics, Pediatrics +17

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 · 34 citations · Full text

Medicine, Oncology, Pharmacology +17

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

Reza Maroofian, Büşranur Çavdarlı, Florence Riccardi et al. · Genetics in Medicine · 2021 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17