| 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 | 193 | 2022 |
| 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 | 33 | 2021 |
| Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy E Verdura, A Rodríguez-Palmero, V Vélez-Santamaria, L Planas-Serra, ... Brain 144 (9), 2659-2669, 2021 | 28 | 2021 |
| Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases PC Marcogliese, SL Deal, J Andrews, JM Harnish, VH Bhavana, ... Cell reports 38 (11), 2022 | 24 | 2022 |
| CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD L Pavinato, A Delle Vedove, D Carli, M Ferrero, S Carestiato, JL Howe, ... Brain 146 (2), 534-548, 2023 | 13 | 2023 |
| Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis L Pavinato, M Villamor-Payà, M Sanchiz-Calvo, C Andreoli, M Gay, ... Journal of Medical Genetics 59 (2), 170-179, 2022 | 11 | 2022 |
| Autism Sequencing Consortium (ASC), Broad Institute Center for Common Disease Genomics (Broad-CCDG), iPSYCH-BROAD Consortium, DJ Cutler, S. De Rubeis, JD Buxbaum, MJ Daly, B … JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins, S Dong, L Klei, ... Nat. Genet 54, 1320-1331, 2022 | 11 | 2022 |
| Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review L Pavinato, S Trajkova, E Grosso, E Giorgio, A Bruselles, FC Radio, ... American Journal of Medical Genetics Part A 185 (6), 1712-1720, 2021 | 9 | 2021 |
| KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity L Pavinato, E Nematian-Ardestani, A Zonta, S De Rubeis, J Buxbaum, ... International Journal of Molecular Sciences 22 (11), 6064, 2021 | 9 | 2021 |
| New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review S Trajkova, E Di Gregorio, GB Ferrero, D Carli, L Pavinato, G Delplancq, ... Brain Sciences 10 (11), 788, 2020 | 8 | 2020 |
| De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes M Scala, N Drouot, SC MacLennan, MW Wessels, M Krygier, L Pavinato, ... Human Mutation 43 (9), 1299-1313, 2022 | 6 | 2022 |
| Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases PC Marcogliese, SL Deal, J Andrews, JM Harnish, VH Bhavana, ... bioRxiv, 2020.12. 30.424813, 2021 | 5 | 2021 |
| The Emerging Roles of Long Non-Coding RNAs in Intellectual Disability and Related Neurodevelopmental Disorders C Liaci, L Prandi, L Pavinato, A Brusco, M Maldotti, I Molineris, S Oliviero, ... International Journal of Molecular Sciences 23 (11), 6118, 2022 | 3 | 2022 |
| Identification of the DNA methylation signature of Mowat-Wilson syndrome SG Caraffi, L van der Laan, K Rooney, S Trajkova, R Zuntini, R Relator, ... European Journal of Human Genetics, 1-11, 2024 | 1 | 2024 |
| p140Cap regulates the composition and localization of the NMDAR complex in synaptic lipid rafts C Angelini, A Morellato, A Alfieri, L Pavinato, T Cravero, OT Bianciotto, ... Journal of Neuroscience 42 (38), 7183-7200, 2022 | 1 | 2022 |
| Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder L Pavinato, J Stanic, M Barzasi, A Gurgone, G Chiantia, V Cipriani, ... Genetics in Medicine 25 (11), 100922, 2023 | | 2023 |
| Skewed X-chromosome Inactivation in Unsolved Neurodevelopmental Disease Cases Can Guide Re-evaluation for X-linked Genes A Brusco, C Giovenino, S Trajkova, L Pavinato, S Cardaropoli, V Pullano, ... | | 2022 |
| p140Cap Targets GluN2A to Lipid Rafts C Angelini, A Morellato, A Alfieri, L Pavinato, T Cravero JOURNAL OF NEUROSCIENCE 42 (38), 7182-7182, 2022 | | 2022 |
| When the neurodevelopmental disorder has a genetic cause: Kleefstra syndrome AP Lorena Sorasio, Luisa Franceschi, Lisa Pavinato Medico e Bambino 24 (4), 114-117, 2021 | | 2021 |
