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| 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 | 759 | 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 | 241 | 2022 |
| Face perception and processing in early infancy: inborn predispositions and developmental changes F Simion, ED Giorgio Frontiers in psychology 6, 969, 2015 | 193 | 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 | 168 | 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 | 137 | 2014 |
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| 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 | 52 | 2013 |
| 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 | 50 | 2018 |
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| 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 | 46 | 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 | 42 | 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 | 40 | 2015 |
| 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 | 34 | 2021 |
| 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 |
| Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity C Mancini, E Hoxha, L Iommarini, A Brussino, U Richter, F Montarolo, ... Neurobiology of disease 124, 14-28, 2019 | 30 | 2019 |
| 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 | 30 | 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 | 29 | 2021 |
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| MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular … A Mussa, D Carli, E Giorgio, AM Villar, S Cardaropoli, C Carbonara, ... Genes 13 (1), 6, 2021 | 27 | 2021 |
