| Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11 A Goldenberg, F Riccardi, A Tessier, R Pfundt, T Busa, P Cacciagli, ... American Journal of Medical Genetics Part A 170 (11), 2847-2859, 2016 | 90 | 2016 |
| Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression‐burst C Mignon‐Ravix, M Milh, CS Kaiser, J Daniel, F Riccardi, P Cacciagli, ... Human Mutation 39 (7), 934-938, 2018 | 35 | 2018 |
| Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders M Smith, E Alexander, R Marcinkute, D Dan, M Rawson, S Banka, J Gavin, ... Orphanet journal of rare diseases 15, 1-11, 2020 | 31 | 2020 |
| Immunomodulatory drugs exert anti-leukemia effects in acute myeloid leukemia by direct and immunostimulatory activities A Le Roy, T Prebet, R Castellano, A Goubard, F Riccardi, C Fauriat, ... Frontiers in immunology 9, 977, 2018 | 31 | 2018 |
| Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients T Charnay, V Blanck, M Cerino, M Bartoli, F Riccardi, N Bonello-Palot, ... Genetics in Medicine 23 (8), 1574-1577, 2021 | 19 | 2021 |
| Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies M Iqbal, R Maroofian, B Çavdarlı, F Riccardi, M Field, S Banka, ... Genetics in Medicine 23 (11), 2138-2149, 2021 | 18 | 2021 |
| Autosomal dominant segregation of CAPN3 c. 598_612del15 associated with a mild form of calpainopathy. M Cerino, M Bartoli, F Riccardi, B Le Goanvic, V Blanck, A Salvi, N Lévy, ... Annals of Clinical & Translational Neurology 7 (12), 2020 | 12 | 2020 |
| Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants S Whalen, M Shaw, C Mignot, D Héron, SC Bastaraud, CC Walti, J Liebelt, ... European Journal of Human Genetics 29 (9), 1405-1417, 2021 | 9 | 2021 |
| Genetics of neonatal onset epilepsies: an overview M Milh, F Riccardi, J Denis Revue Neurologique 176 (1-2), 2-9, 2020 | 9 | 2020 |
| NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant C Mignon‐Ravix, F Riccardi, G Daquin, P Cacciagli, S Lamoureux‐Toth, ... Epilepsia 64 (6), e127-e134, 2023 | 7 | 2023 |
| A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature F Riccardi, J Urquhart, G McCullagh, P Lawrence, S Douzgou Clinical Dysmorphology 28 (2), 66-70, 2019 | 7 | 2019 |
| Correspondence on “De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females” by Polla et al. F Riccardi, A Astier, M Grisval, A Maillard, V Michaud, C Badens, ... Genetics in Medicine 23 (10), 2003-2004, 2021 | 3 | 2021 |
| Sweet heart. Hypertrophic cardiomyopathy in a 49-year-old man A Benyamine, F Riccardi, S Coze, A Jacquier, A Chaussenot, V Paquis, ... La Revue de medecine interne 37 (11), 779-781, 2016 | 3 | 2016 |
| Clinical and molecular characterization of patients with YWHAG‐related epilepsy V Cetica, T Pisano, G Lesca, D Marafi, L Licchetta, F Riccardi, D Mei, ... Epilepsia, 2024 | 2 | 2024 |
| TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype M Abaji, C Mignon-Ravix, S Gorokhova, P Cacciagli, J Mortreux, ... Journal of Medical Genetics 60 (10), 1021-1025, 2023 | 2 | 2023 |
| The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community F Riccardi, R Marcinkute, C Azevedo Soares, PS Calapod, JM Cerqueira, ... European Journal of Human Genetics 30 (3), 252-255, 2022 | 2 | 2022 |
| Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability E Khosrowabadi, C Mignon-Ravix, F Riccardi, P Cacciagli, B Desnous, ... Human Molecular Genetics 33 (6), 520-529, 2024 | 1 | 2024 |
| Extension of the phenotypic spectrum of GLE1‐related disorders to a mild congenital form resembling congenital myopathy M Cerino, C Di Meglio, F Albertini, F Audic, F Riccardi, C Boulay, N Philip, ... Molecular Genetics & Genomic Medicine 8 (8), e1277, 2020 | 1 | 2020 |
| A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports M Gorokhov, M Cerino, J Mortreux, F Riccardi, N Lévy, M Bartoli, M Krahn, ... Scientific Reports 10 (1), 6247, 2020 | 1 | 2020 |
| Cuándo pensar en una enfermedad mitocondrial A Benyamine, S Coze, F Riccardi, A Lachaud, P Belenotti, J Serratrice EMC-Tratado de Medicina 22 (3), 1-11, 2018 | 1 | 2018 |
Svetlana GorokhovaMarseille Medical Genetics, Genetics Department in Timone Children's Hospital, Marseille在 univ-amu.fr 的电子邮件经过验证
