| Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848 M Koczkowska, Y Chen, T Callens, A Gomes, A Sharp, S Johnson, ... The American Journal of Human Genetics 102 (1), 69-87, 2018 | 212 | 2018 |
| Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives NE Braverman, MD D'Agostino, GE MacLean Developmental disabilities research reviews 17 (3), 187-196, 2013 | 195 | 2013 |
| Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development AL Lennox, ML Hoye, R Jiang, BL Johnson-Kerner, LA Suit, ... Neuron 106 (3), 404-420. e8, 2020 | 163 | 2020 |
| Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females MD D’Agostino, A Bernasconi, S Das, A Bastos, RM Valerio, A Palmini, ... Brain 125 (11), 2507-2522, 2002 | 134 | 2002 |
| Hippocampal atrophy and T2-weighted signal changes in familial mesial temporal lobe epilepsy E Kobayashi, MD D’Agostino, I Lopes-Cendes, SF Berkovic, ML Li, ... Neurology 60 (3), 405-409, 2003 | 132 | 2003 |
| Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in … M Koczkowska, T Callens, Y Chen, A Gomes, AD Hicks, A Sharp, E Johns, ... Human mutation 41 (1), 299-315, 2020 | 123 | 2020 |
| Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation AC Jansen, O Sancak, MD D'Agostino, A Badhwar, P Roberts, G Gobbi, ... Annals of Neurology: Official Journal of the American Neurological …, 2006 | 115 | 2006 |
| Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy D D’agostino, M Bertelli, S Gallo, S Cecchin, E Albiero, PG Garofalo, ... Neurology 63 (8), 1500-1502, 2004 | 107 | 2004 |
| Posterior quadrantic dysplasia or hemi-hemimegalencephaly: a characteristic brain malformation MD D’Agostino, A Bastos, C Piras, A Bernasconi, T Grisar, VG Tsur, ... Neurology 62 (12), 2214-2220, 2004 | 107 | 2004 |
| Surgical resection for intractable epilepsy in “double cortex” syndrome yields inadequate results A Bernasconi, V Martinez, P Rosa‐Neto, D d'Agostino, N Bernasconi, ... Epilepsia 42 (9), 1124-1129, 2001 | 97 | 2001 |
| Peroxisome biogenesis disorders C Argyriou, MD D’Agostino, N Braverman Translational science of rare diseases 1 (2), 111-144, 2016 | 90 | 2016 |
| Long-term efficacy and safety of piracetam in the treatment of progressive myoclonus epilepsy M Fedi, D Reutens, F Dubeau, E Andermann, D D'Agostino, F Andermann Archives of neurology 58 (5), 781-786, 2001 | 86 | 2001 |
| Familial mesial temporal lobe epilepsy maps to chromosome 4q13. 2-q21. 3 P Hedera, MA Blair, E Andermann, F Andermann, D D'agostino, KA Taylor, ... Neurology 68 (24), 2107-2112, 2007 | 82 | 2007 |
| Nonsyndromic mental retardation and cryptogenic epilepsy in women with Doublecortin gene mutations R Guerrini, F Moro, E Andermann, E Hughes, D D'Agostino, R Carrozzo, ... Annals of neurology 54 (1), 30-37, 2003 | 64 | 2003 |
| Outcome of surgical treatment in familial mesial temporal lobe epilepsy E Kobayashi, MD D'Agostino, I Lopes‐Cendes, E Andermann, F Dubeau, ... Epilepsia 44 (8), 1080-1084, 2003 | 52 | 2003 |
| Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations S Martinelli, E Stellacci, L Pannone, D D'Agostino, F Consoli, C Lissewski, ... Human mutation 36 (8), 787-796, 2015 | 50 | 2015 |
| A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia J Richer, HL Hill, Y Wang, ML Yang, KL Hunker, J Lane, S Blackburn, ... Arteriosclerosis, thrombosis, and vascular biology 40 (11), 2686-2699, 2020 | 40 | 2020 |
| Glucocorticoid resistance syndrome caused by a novel NR3C1 point mutation R Al Argan, A Saskin, JW Yang, MD D’Agostino, J Rivera Endocrine Journal 65 (11), 1139-1146, 2018 | 30 | 2018 |
| Exceptionally long absence status: multifactorial etiology, drug interactions and complications MD D'Agostino, F Andermann, F Dubeau, M Fedi, A Bastos Epileptic Disorders 1 (4), 229-232, 1999 | 20 | 1999 |
| Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma I Bah, S Fahiminiya, LR Bégin, N Hamel, MD D'Agostino, S Tanguay, ... The Journal of Pathology: Clinical Research 4 (3), 167-174, 2018 | 13 | 2018 |
