| 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 | 1693 | 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 | 716 | 2021 |
| NT5E Mutations and Arterial Calcifications C St. Hilaire, SG Ziegler, TC Markello, A Brusco, C Groden, F Gill, ... New England Journal of Medicine 364 (5), 432-442, 2011 | 468 | 2011 |
| Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 D Di Bella, F Lazzaro, A Brusco, M Plumari, G Battaglia, A Pastore, ... Nature genetics 42 (4), 313-321, 2010 | 350 | 2010 |
| COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome I Longo, P Porcedda, F Mari, D Giachino, I Meloni, C Deplano, A Brusco, ... Kidney international 61 (6), 1947-1956, 2002 | 285 | 2002 |
| Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression TN Willig, N Draptchinskaia, I Dianzani, S Ball, C Niemeyer, U Ramenghi, ... Blood, The Journal of the American Society of Hematology 94 (12), 4294-4306, 1999 | 277 | 1999 |
| ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population E Benetti, R Tita, O Spiga, A Ciolfi, G Birolo, A Bruselles, G Doddato, ... European Journal of Human Genetics 28 (11), 1602-1614, 2020 | 269 | 2020 |
| Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome MC Bonaglia, R Giorda, S Beri, C De Agostini, F Novara, M Fichera, ... PLoS genetics 7 (7), e1002173, 2011 | 211 | 2011 |
| Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families A Brusco, C Gellera, C Cagnoli, A Saluto, A Castucci, C Michielotto, ... Archives of neurology 61 (5), 727-733, 2004 | 193 | 2004 |
| 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 | 189 | 2022 |
| 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 | 186 | 2019 |
| Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes S Tezenas du Montcel, A Durr, P Bauer, KP Figueroa, Y Ichikawa, ... Brain 137 (9), 2444-2455, 2014 | 186 | 2014 |
| Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy S Klebe, C Depienne, S Gerber, G Challe, M Anheim, P Charles, ... Brain 135 (10), 2980-2993, 2012 | 183 | 2012 |
| CGG repeat length correlates with age of onset of motor signs of the fragile X‐associated tremor/ataxia syndrome (FXTAS) F Tassone, J Adams, EM Berry‐Kravis, SS Cohen, A Brusco, MA Leehey, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 144 …, 2007 | 177 | 2007 |
| SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11. 22–q11. 2 C Cagnoli, C Mariotti, F Taroni, M Seri, A Brussino, C Michielotto, ... Brain 129 (1), 235-242, 2006 | 164 | 2006 |
| 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 | 157 | 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 |
| An enhanced polymerase chain reaction assay to detect pre-and full mutation alleles of the fragile X mental retardation 1 gene A Saluto, A Brussino, F Tassone, C Arduino, C Cagnoli, P Pappi, ... The Journal of Molecular Diagnostics 7 (5), 605-612, 2005 | 132 | 2005 |
| A recurrent mutation in CACNA1G alters Cav3. 1 T-type calcium-channel conduction and causes autosomal-dominant cerebellar ataxia M Coutelier, I Blesneac, A Monteil, ML Monin, K Ando, E Mundwiller, ... The American Journal of Human Genetics 97 (5), 726-737, 2015 | 121 | 2015 |
| Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations P Quarello, E Garelli, A Carando, A Brusco, R Calabrese, C Dufour, ... Haematologica 95 (2), 206-213, 2010 | 109 | 2010 |
Elisa GiorgioUniversity of TorinoVerified email at unito.it
