| 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 | 851 | 2021 |
| 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 | 227 | 2019 |
| Loss of tubulin deglutamylase CCP 1 causes infantile‐onset neurodegeneration V Shashi, MM Magiera, D Klein, M Zaki, K Schoch, S Rudnik‐Schöneborn, ... The EMBO journal 37 (23), e100540, 2018 | 123 | 2018 |
| Advances in genetic testing and optimization of clinical management in children and adults with epilepsy M Scala, A Bianchi, F Bisulli, A Coppola, M Elia, M Trivisano, D Pruna, ... Expert review of neurotherapeutics 20 (3), 251-269, 2020 | 64 | 2020 |
| Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females M Scala, A Torella, M Severino, G Morana, R Castello, A Accogli, ... European Journal of Human Genetics 27 (8), 1254-1259, 2019 | 52 | 2019 |
| 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 | 46 | 2021 |
| Diagnostic approach to macrocephaly in children A Accogli, AF Geraldo, G Piccolo, A Riva, M Scala, G Balagura, ... Frontiers in pediatrics 9, 794069, 2022 | 45 | 2022 |
| Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes M Scala, M Nishikawa, H Ito, H Tabata, T Khan, A Accogli, L Davids, ... Brain 145 (9), 3308-3327, 2022 | 42 | 2022 |
| Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants C Neuray, R Maroofian, M Scala, T Sultan, GS Pai, M Mojarrad, ... Brain 143 (8), 2388-2397, 2020 | 41 | 2020 |
| Limits and pitfalls of indirect revascularization in moyamoya disease and syndrome P Fiaschi, M Scala, G Piatelli, D Tortora, F Secci, A Cama, M Pavanello Neurosurgical review 44, 1877-1887, 2021 | 37 | 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 | 37 | 2021 |
| 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 | 36 | 2021 |
| Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy GL Carvill, KL Helbig, CT Myers, M Scala, R Huether, S Lewis, TN Kruer, ... Human mutation 41 (7), 1263-1279, 2020 | 36 | 2020 |
| CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations A Accogli, M Scala, A Calcagno, F Napoli, N Di Iorgi, S Arrigo, ... European Journal of Medical Genetics 62 (3), 198-203, 2019 | 36 | 2019 |
| Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’project E Amadori, M Scala, GS Cereda, MS Vari, F Marchese, V Di Pisa, ... Italian journal of pediatrics 46, 1-9, 2020 | 33 | 2020 |
| Pathophysiological mechanisms in neurodevelopmental disorders caused by Rac GTPases dysregulation: what’s behind neuro-RACopathies M Scala, M Nishikawa, K Nagata, P Striano Cells 10 (12), 3395, 2021 | 32 | 2021 |
| Radiation-induced moyamoya syndrome in children with brain tumors: case series and literature review M Scala, P Fiaschi, A Cama, A Consales, G Piatelli, F Giannelli, S Barra, ... World neurosurgery 135, 118-129, 2020 | 32 | 2020 |
| Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34 R Shaheen, P Mark, CT Prevost, A AlKindi, A Alhag, F Estwani, ... Human mutation 40 (11), 2108-2120, 2019 | 32 | 2019 |
| Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X E Leitão, C Schröder, I Parenti, C Dalle, A Rastetter, T Kühnel, A Kuechler, ... Nature Communications 13 (1), 6570, 2022 | 31 | 2022 |
| 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 | 31 | 2022 |