| Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia A Sirmaci, M Spiliopoulos, F Brancati, E Powell, D Duman, A Abrams, ... The American Journal of Human Genetics 89 (2), 289-294, 2011 | 280 | 2011 |
| p. Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas V Pinna, V Lanari, P Daniele, F Consoli, E Agolini, K Margiotti, I Bottillo, ... European Journal of Human Genetics 23 (8), 1068-1071, 2015 | 163 | 2015 |
| Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome F Brancati, P Fortugno, I Bottillo, M Lopez, E Josselin, ... The American Journal of Human Genetics 87 (2), 265-273, 2010 | 130 | 2010 |
| COVID-19 and genetic variants of protein involved in the SARS-CoV-2 entry into the host cells A Latini, E Agolini, A Novelli, P Borgiani, R Giannini, P Gravina, ... Genes 11 (9), 1010, 2020 | 105 | 2020 |
| DICER1 syndrome and cancer predisposition: from a rare pediatric tumor to lifetime risk AM Caroleo, MA De Ioris, L Boccuto, I Alessi, G Del Baldo, A Cacchione, ... Frontiers in oncology 10, 614541, 2021 | 63 | 2021 |
| Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function M Zilmer, AC Edmondson, SA Khetarpal, V Alesi, MS Zaki, K Rostasy, ... Brain 143 (4), 1114-1126, 2020 | 63 | 2020 |
| Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome S Paolacci, Y Li, E Agolini, E Bellacchio, CE Arboleda-Bustos, D Carrero, ... Journal of medical genetics 55 (12), 837-846, 2018 | 62 | 2018 |
| BRAF V600E Inhibitor (Vemurafenib) for BRAF V600E Mutated Low Grade Gliomas F Del Bufalo, G Ceglie, A Cacchione, I Alessi, GS Colafati, A Carai, ... Frontiers in oncology 8, 526, 2018 | 55 | 2018 |
| De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. S Zampatti, M Castori, B Fischer, P Ferrari, L Garavelli, C Dionisi-Vici, ... American Journal of Medical Genetics. Part A 158 (4), 927-931, 2012 | 52 | 2012 |
| Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior HK Harris, T Nakayama, J Lai, B Zhao, N Argyrou, CS Gubbels, A Soucy, ... Genetics in Medicine 23 (6), 1028-1040, 2021 | 49 | 2021 |
| COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap S Morlino, L Micale, M Ritelli, M Rohrbach, N Zoppi, A Vandersteen, ... Clinical genetics 97 (3), 396-406, 2020 | 47 | 2020 |
| Inhibition of HECT E3 ligases as potential therapy for COVID-19 G Novelli, J Liu, M Biancolella, T Alonzi, A Novelli, JJ Patten, ... Cell Death & Disease 12 (4), 310, 2021 | 45 | 2021 |
| Episignatures stratifying Helsmoortel-Van Der Aa syndrome show modest correlation with phenotype MS Breen, P Garg, L Tang, D Mendonca, T Levy, M Barbosa, AB Arnett, ... The American Journal of Human Genetics 107 (3), 555-563, 2020 | 44 | 2020 |
| Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations J Devane, E Ott, EG Olinger, D Epting, E Decker, A Friedrich, ... The American Journal of Human Genetics 109 (5), 928-943, 2022 | 39 | 2022 |
| KBG syndrome: common and uncommon clinical features based on 31 new patients M Gnazzo, FR Lepri, ML Dentici, R Capolino, E Pisaneschi, E Agolini, ... American Journal of Medical Genetics Part A 182 (5), 1073-1083, 2020 | 39 | 2020 |
| 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 | 39 | 2018 |
| Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation P Fortugno, E Josselin, K Tsiakas, E Agolini, G Cestra, M Teson, R Santer, ... Journal of Investigative Dermatology 134 (8), 2146-2153, 2014 | 38 | 2014 |
| Pathogenic variants in GPC4 cause Keipert syndrome DJ Amor, SEM Stephenson, M Mustapha, MA Mensah, CW Ockeloen, ... The American Journal of Human Genetics 104 (5), 914-924, 2019 | 35 | 2019 |
| Rhabdoid tumor predisposition syndrome: from clinical suspicion to general management G Del Baldo, R Carta, I Alessi, P Merli, E Agolini, M Rinelli, L Boccuto, ... Frontiers in Oncology 11, 586288, 2021 | 34 | 2021 |
| Low-grade gliomas in patients with noonan syndrome: case-based review of the literature M Lodi, L Boccuto, A Carai, A Cacchione, E Miele, GS Colafati, ... Diagnostics 10 (8), 582, 2020 | 34 | 2020 |
