| Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism FK Satterstrom, JA Kosmicki, J Wang, MS Breen, S De Rubeis, JY An, ... Cell 180 (3), 568-584. e23, 2020 | 2023 | 2020 |
| Mapping the human genetic architecture of COVID-19 Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ... Nature 600 (7889), 472-477, 2021 | 842 | 2021 |
| Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. F Brioude, JM Kalish, A Mussa, AC Foster, J Bliek, GB Ferrero, ... Nat Rev Endocrinol 14 (4), 229-249, 2018 | 547* | 2018 |
| X-linked situs abnormalities result from mutations in ZIC3 M Gebbia, GB Ferrero, G Pilia, MT Bassi, AS Aylsworth, M Penman-Splitt, ... Nature genetics 17 (3), 305-308, 1997 | 477 | 1997 |
| Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair V Cordeddu, E Di Schiavi, LA Pennacchio, A Ma'ayan, A Sarkozy, ... Nature genetics 41 (9), 1022-1026, 2009 | 475 | 2009 |
| Relative burden of large CNVs on a range of neurodevelopmental phenotypes S Girirajan, Z Brkanac, BP Coe, C Baker, L Vives, TH Vu, N Shafer, ... PLoS genetics 7 (11), e1002334, 2011 | 374 | 2011 |
| Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum A Sarkozy, C Carta, S Moretti, G Zampino, MC Digilio, F Pantaleoni, ... Human mutation 30 (4), 695-702, 2009 | 368 | 2009 |
| Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome A Sparago, F Cerrato, M Vernucci, GB Ferrero, MC Silengo, A Riccio Nature genetics 36 (9), 958-960, 2004 | 353 | 2004 |
| Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients M De Gregori, R Ciccone, P Magini, T Pramparo, S Gimelli, J Messa, ... Journal of medical genetics 44 (12), 750-762, 2007 | 349 | 2007 |
| Rare coding variation provides insight into the genetic architecture and phenotypic context of autism JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins, S Dong, B Wamsley, ... Nature genetics 54 (9), 1320-1331, 2022 | 347 | 2022 |
| Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype S Martinelli, A De Luca, E Stellacci, C Rossi, S Checquolo, F Lepri, ... The American Journal of Human Genetics 87 (2), 250-257, 2010 | 292 | 2010 |
| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 223 | 2019 |
| (Epi) genotype–phenotype correlations in Beckwith–Wiedemann syndrome A Mussa, S Russo, A De Crescenzo, A Freschi, L Calzari, S Maitz, ... European journal of human genetics 24 (2), 183-190, 2016 | 212* | 2016 |
| Heart rate variability in childhood obesity G Martini, P Riva, F Rabbia, V Molini, GB Ferrero, F Cerutti, R Carra, ... Clinical Autonomic Research 11, 87-91, 2001 | 175 | 2001 |
| Cancer risk in Beckwith-Wiedemann syndrome: a systematic review and meta-analysis outlining a novel (epi) genotype specific histotype targeted screening protocol A Mussa, C Molinatto, G Baldassarre, E Riberi, S Russo, L Larizza, ... The Journal of pediatrics 176, 142-149. e1, 2016 | 173 | 2016 |
| Prevalence of Beckwith–Wiedemann syndrome in north west of Italy A Mussa, S Russo, A De Crescenzo, N Chiesa, C Molinatto, A Selicorni, ... American journal of medical genetics Part A 161 (10), 2481-2486, 2013 | 156 | 2013 |
| SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype–phenotype correlations F Lepri, A De Luca, L Stella, C Rossi, G Baldassarre, F Pantaleoni, ... Human mutation 32 (7), 760-772, 2011 | 149 | 2011 |
| The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell … N Chiesa, A De Crescenzo, K Mishra, L Perone, M Carella, O Palumbo, ... Human molecular genetics 21 (1), 10-25, 2012 | 148 | 2012 |
| Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour A Sparago, S Russo, F Cerrato, S Ferraiuolo, P Castorina, A Selicorni, ... Human molecular genetics 16 (3), 254-264, 2007 | 144 | 2007 |
| Assisted reproductive techniques and risk of Beckwith-Wiedemann syndrome A Mussa, C Molinatto, F Cerrato, O Palumbo, M Carella, G Baldassarre, ... Pediatrics 140 (1), 2017 | 140 | 2017 |
Andrea RiccioUniversità della Campania "Luigi Vanvitelli"Geverifieerd e-mailadres voor unicampania.it
