| 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 | 609 | 2021 |
| Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ... The American Journal of Human Genetics 105 (2), 267-282, 2019 | 303 | 2019 |
| 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 | 262 | 2019 |
| Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 MA Corbett, T Kroes, L Veneziano, MF Bennett, R Florian, AL Schneider, ... Nature communications 10 (1), 4920, 2019 | 165 | 2019 |
| Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study P May, S Girard, M Harrer, DR Bobbili, J Schubert, S Wolking, F Becker, ... The Lancet Neurology 17 (8), 699-708, 2018 | 102 | 2018 |
| New trends and most promising therapeutic strategies for epilepsy treatment A Riva, A Golda, G Balagura, E Amadori, MS Vari, G Piccolo, M Iacomino, ... Frontiers in neurology 12, 753753, 2021 | 83 | 2021 |
| Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects LM Niestroj, E Perez-Palma, DP Howrigan, Y Zhou, F Cheng, ... Brain 143 (7), 2106-2118, 2020 | 76 | 2020 |
| Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission HCA Lammertse, AA van Berkel, M Iacomino, RF Toonen, P Striano, ... Brain 143 (2), 441-451, 2020 | 69 | 2020 |
| Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features CE Niturad, D Lev, VM Kalscheuer, A Charzewska, J Schubert, ... Brain 140 (11), 2879-2894, 2017 | 63 | 2017 |
| Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals JE Motelow, G Povysil, RS Dhindsa, KE Stanley, AS Allen, YCA Feng, ... The American Journal of Human Genetics 108 (6), 965-982, 2021 | 57 | 2021 |
| Brain organoids as model systems for genetic neurodevelopmental disorders S Baldassari, I Musante, M Iacomino, F Zara, V Salpietro, P Scudieri Frontiers in Cell and Developmental Biology 8, 590119, 2020 | 57 | 2020 |
| A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy G Frisso, G Limongelli, G Pacileo, A Del Giudice, L Forgione, P Calabro, ... Clinical genetics 76 (1), 91-101, 2009 | 56 | 2009 |
| The L467F-F508del complex allele hampers pharmacological rescue of mutant CFTR by elexacaftor/tezacaftor/ivacaftor in cystic fibrosis patients: the value of the ex vivo nasal … E Sondo, F Cresta, C Pastorino, V Tomati, V Capurro, E Pesce, M Lena, ... International Journal of Molecular Sciences 23 (6), 3175, 2022 | 55 | 2022 |
| Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia M Wiessner, R Maroofian, MY Ni, A Pedroni, JS Müller, R Stucka, C Beetz, ... Brain 144 (5), 1422-1434, 2021 | 52 | 2021 |
| Genotype-phenotype correlations in neurofibromatosis type 1: a single-center cohort study M Scala, I Schiavetti, F Madia, C Chelleri, G Piccolo, A Accogli, A Riva, ... Cancers 13 (8), 1879, 2021 | 51 | 2021 |
| Spliceosome malfunction causes neurodevelopmental disorders with overlapping features D Li, Q Wang, A Bayat, MR Battig, Y Zhou, DGM Bosch, G Van Haaften, ... The Journal of clinical investigation 134 (1), 2024 | 46 | 2024 |
| Novel GABRG2 mutations cause familial febrile seizures M Boillot, M Morin-Brureau, F Picard, S Weckhuysen, V Lambrecq, ... Neurology: Genetics 1 (4), e35, 2015 | 44 | 2015 |
| Epilepsy Course and Developmental Trajectories in STXBP1-DEE G Balagura, J Xian, A Riva, F Marchese, B Ben Zeev, L Rios, D Sirsi, ... Neurology: Genetics 8 (3), e676, 2022 | 37 | 2022 |
| De novo GRIN2A variants associated with epilepsy and autism and literature review GD Mangano, A Riva, A Fontana, V Salpietro, GR Mangano, G Nobile, ... Epilepsy & behavior 129, 108604, 2022 | 36 | 2022 |
| Loss of Wwox perturbs neuronal migration and impairs early cortical development M Iacomino, S Baldassari, Y Tochigi, K Kośla, F Buffelli, A Torella, ... Frontiers in Neuroscience 14, 644, 2020 | 33 | 2020 |
