| 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 | 1684 | 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 | 712 | 2021 |
| 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 | 183 | 2022 |
| Face perception and processing in early infancy: inborn predispositions and developmental changes F Simion, ED Giorgio Frontiers in psychology 6, 145703, 2015 | 178 | 2015 |
| A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) E Giorgio, D Robyr, M Spielmann, E Ferrero, E Di Gregorio, D Imperiale, ... Human molecular genetics 24 (11), 3143-3154, 2015 | 156 | 2015 |
| ELOVL5 mutations cause spinocerebellar ataxia 38 E Di Gregorio, B Borroni, E Giorgio, D Lacerenza, M Ferrero, NL Buono, ... The American Journal of Human Genetics 95 (2), 209-217, 2014 | 135 | 2014 |
| Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk FK Satterstrom, JA Kosmicki, J Wang, MS Breen, SD Rubeis, JY An, ... BioRxiv, 484113, 2018 | 49 | 2018 |
| Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression E Giorgio, H Rolyan, L Kropp, AB Chakka, S Yatsenko, ED Gregorio, ... Human mutation 34 (8), 1160-1171, 2013 | 49 | 2013 |
| MW State, AE Cicek, ME Talkowski, DJ Cutler, B. Devlin, SJ Sanders, K. Roeder, MJ Daly, JD Buxbaum, Large-scale exome sequencing study implicates both developmental and … FK Satterstrom, JA Kosmicki, J Wang, MS Breen, S De Rubeis, JY An, ... Cell 180 (568-584), e23, 2020 | 47 | 2020 |
| Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate … E Di Gregorio, E Riberi, EF Belligni, E Biamino, M Spielmann, U Ala, ... Clinical genetics 92 (4), 415-422, 2017 | 45 | 2017 |
| A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity E Biamino, E Di Gregorio, EF Belligni, R Keller, E Riberi, M Gandione, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 171 …, 2016 | 43 | 2016 |
| Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations C Mancini, S Nassani, Y Guo, Y Chen, E Giorgio, A Brussino, ... Journal of neurology 262, 173-178, 2015 | 39 | 2015 |
| Messenger RNA processing is altered in autosomal dominant leukodystrophy A Bartoletti-Stella, L Gasparini, C Giacomini, P Corrado, R Terlizzi, ... Human molecular genetics 24 (10), 2746-2756, 2015 | 38 | 2015 |
| Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof‐of‐concept examples E Giorgio, A Ciolfi, E Biamino, V Caputo, E Di Gregorio, EF Belligni, ... American Journal of Medical Genetics Part A 170 (7), 1772-1779, 2016 | 33 | 2016 |
| Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins, S Dong, L Klei, ... MedRxiv, 2021.12. 20.21267194, 2021 | 32 | 2021 |
| Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH E Di Gregorio, E Savin, E Biamino, EF Belligni, VG Naretto, ... Molecular Cytogenetics 7, 1-10, 2014 | 30 | 2014 |
| Two families with novel missense mutations in COL4A1: When diagnosis can be missed E Giorgio, G Vaula, G Bosco, S Giacone, C Mancini, A Calcia, S Cavalieri, ... Journal of the neurological sciences 352 (1-2), 99-104, 2015 | 29 | 2015 |
| DLG4-related synaptopathy: a new rare brain disorder A Rodríguez-Palmero, MM Boerrigter, D Gómez-Andrés, KA Aldinger, ... Genetics in Medicine 23 (5), 888-899, 2021 | 27 | 2021 |
| SLC20A1 Is Involved in Urinary Tract and Urorectal Development JM Rieke, R Zhang, D Braun, Ö Yilmaz, AS Japp, FM Lopes, M Pleschka, ... Frontiers in cell and developmental biology 8, 567, 2020 | 27 | 2020 |
| Protein stability perturbation contributes to the loss of function in haploinsufficient genes G Birolo, S Benevenuta, P Fariselli, E Capriotti, E Giorgio, T Sanavia Frontiers in Molecular Biosciences 8, 620793, 2021 | 25 | 2021 |
