| Mutations in KCNK4 that affect gating cause a recognizable neurodevelopmental syndrome CK Bauer, P Calligari, FC Radio, V Caputo, ML Dentici, N Falah, F High, ... The American Journal of Human Genetics 103 (4), 621-630, 2018 | 88 | 2018 |
| Enhanced MAPK1 function causes a neurodevelopmental disorder within the RASopathy clinical spectrum M Motta, L Pannone, F Pantaleoni, G Bocchinfuso, FC Radio, S Cecchetti, ... The American Journal of Human Genetics 107 (3), 499-513, 2020 | 68 | 2020 |
| Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ... European journal of human genetics 29 (9), 1325-1331, 2021 | 67 | 2021 |
| Aberrant function of the C-terminal tail of HIST1H1E accelerates cellular senescence and causes premature aging E Flex, S Martinelli, A Van Dijck, A Ciolfi, S Cecchetti, E Coluzzi, ... The American Journal of Human Genetics 105 (3), 493-508, 2019 | 67 | 2019 |
| SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females FC Radio, K Pang, A Ciolfi, MA Levy, A Hernández-García, L Pedace, ... The American Journal of Human Genetics 108 (3), 502-516, 2021 | 61 | 2021 |
| Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature A Ciolfi, E Aref-Eshghi, S Pizzi, L Pedace, E Miele, J Kerkhof, E Flex, ... Clinical epigenetics 12, 1-11, 2020 | 54 | 2020 |
| A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin‐associated iron overload diseases E Létocart, G Le Gac, S Majore, C Ka, FC Radio, I Gourlaouen, ... British journal of haematology 147 (3), 379-385, 2009 | 52 | 2009 |
| Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients L Bryant, D Li, SG Cox, D Marchione, EF Joiner, K Wilson, K Janssen, ... Science advances 6 (49), eabc9207, 2020 | 49 | 2020 |
| Association of hepcidin promoter c.-582 A> G variant and iron overload in thalassemia major M Andreani, FC Radio, M Testi, C De Bernardo, M Troiano, S Majore, ... haematologica 94 (9), 1293, 2009 | 40 | 2009 |
| Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review E Agolini, ML Dentici, E Bellacchio, V Alesi, FC Radio, A Torella, ... Clinical Genetics 93 (3), 675-681, 2018 | 35 | 2018 |
| Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants LX Zhang, G Lemire, C Gonzaga-Jauregui, S Molidperee, ... Genetics in Medicine 22 (8), 1338-1347, 2020 | 34 | 2020 |
| Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes FC Radio, S Majore, C Aurizi, F Sorge, G Biolcati, S Bernabini, I Giotti, ... Blood Cells, Molecules, and Diseases 55 (1), 71-75, 2015 | 34 | 2015 |
| SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype M Motta, G Fasano, S Gredy, J Brinkmann, AA Bonnard, PO Simsek-Kiper, ... The American Journal of Human Genetics 108 (11), 2112-2129, 2021 | 33 | 2021 |
| TBX2 gene duplication associated with complex heart defect and skeletal malformations FC Radio, L Bernardini, S Loddo, I Bottillo, A Novelli, R Mingarelli, ... American Journal of Medical Genetics Part A 152 (8), 2061-2066, 2010 | 33 | 2010 |
| TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy FC Radio, S Majore, F Binni, M Valiante, BM Ricerca, C De Bernardo, ... Blood Cells, Molecules, and Diseases 52 (2-3), 83-87, 2014 | 32 | 2014 |
| A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome TG Drivas, D Li, D Nair, JT Alaimo, M Alders, J Altmüller, TS Barakat, ... European Journal of Human Genetics 28 (10), 1422-1431, 2020 | 30 | 2020 |
| 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 | 27 | 2020 |
| POGZ‐related epilepsy: Case report and review of the literature A Ferretti, S Barresi, M Trivisano, A Ciolfi, ML Dentici, FC Radio, ... American Journal of Medical Genetics Part A 179 (8), 1631-1636, 2019 | 26 | 2019 |
| When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort A Scott, N Di Giosaffatte, V Pinna, P Daniele, S Corno, V D’Ambrosio, ... Genetics in Medicine 23 (6), 1116-1124, 2021 | 23 | 2021 |
| Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications C Lissewski, V Chune, F Pantaleoni, A De Luca, Y Capri, J Brinkmann, ... European Journal of Human Genetics 29 (1), 51-60, 2021 | 21 | 2021 |
