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| Recurrent reciprocal 1q21. 1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities N Brunetti-Pierri, JS Berg, F Scaglia, J Belmont, CA Bacino, T Sahoo, ... Nature genetics 40 (12), 1466-1471, 2008 | 676 | 2008 |
| Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition A Luciani, VR Villella, S Esposito, N Brunetti-Pierri, D Medina, ... Nature cell biology 12 (9), 863-875, 2010 | 537 | 2010 |
| GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects N Brunetti-Pierri, F Scaglia Molecular genetics and metabolism 94 (4), 391-396, 2008 | 345 | 2008 |
| Molecular and clinical genetics of mitochondrial diseases due to POLG mutations LJC Wong, RK Naviaux, N Brunetti‐Pierri, Q Zhang, ES Schmitt, C Truong, ... Human mutation 29 (9), E150-E172, 2008 | 337 | 2008 |
| Acute toxicity after high-dose systemic injection of helper-dependent adenoviral vectors into nonhuman primates N Brunetti-Pierri, DJ Palmer, AL Beaudet, KD Carey, M Finegold, P Ng Human gene therapy 15 (1), 35-46, 2004 | 305 | 2004 |
| RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation N Revencu, LM Boon, A Mendola, MR Cordisco, J Dubois, P Clapuyt, ... Human mutation 34 (12), 1632-1641, 2013 | 290 | 2013 |
| Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11. 23 Williams-Beuren syndrome region JS Berg, N Brunetti-Pierri, SU Peters, SHL Kang, CT Fong, J Salamone, ... Genetics in Medicine 9 (7), 427-441, 2007 | 274 | 2007 |
| Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis EV Polishchuk, M Concilli, S Iacobacci, G Chesi, N Pastore, P Piccolo, ... Developmental cell 29 (6), 686-700, 2014 | 272 | 2014 |
| Copy number variants at Williams–Beuren syndrome 7q11. 23 region G Merla, N Brunetti-Pierri, L Micale, C Fusco Human genetics 128, 3-26, 2010 | 200 | 2010 |
| Toll-like receptor 9 triggers an innate immune response to helper-dependent adenoviral vectors V Cerullo, MP Seiler, V Mane, N Brunetti-Pierri, C Clarke, TK Bertin, ... Molecular Therapy 15 (2), 378-385, 2007 | 174 | 2007 |
| Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders T Wang, K Hoekzema, D Vecchio, H Wu, A Sulovari, BP Coe, ... Nature communications 11 (1), 4932, 2020 | 164 | 2020 |
| Inborn errors of metabolism: the flux from Mendelian to complex diseases B Lanpher, N Brunetti-Pierri, B Lee Nature Reviews Genetics 7 (6), 449-459, 2006 | 157 | 2006 |
| Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha‐1‐anti‐trypsin deficiency N Pastore, K Blomenkamp, F Annunziata, P Piccolo, P Mithbaokar, ... EMBO molecular medicine 5 (3), 397-412, 2013 | 156 | 2013 |
| Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects CMR Weemaes, MJ Van Tol, J Wang, MM van Ostaijen-Ten Dam, ... European Journal of Human Genetics 21 (11), 1219-1225, 2013 | 153 | 2013 |
| DUF1220-domain copy number implicated in human brain-size pathology and evolution LJ Dumas, MS O’Bleness, JM Davis, CM Dickens, N Anderson, ... The American Journal of Human Genetics 91 (3), 444-454, 2012 | 151 | 2012 |
| Generalized metabolic bone disease in Neurofibromatosis type I N Brunetti-Pierri, SB Doty, J Hicks, K Phan, R Mendoza-Londono, M Blazo, ... Molecular genetics and metabolism 94 (1), 105-111, 2008 | 148 | 2008 |
| Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3β-hydroxysteroid-Δ5-desaturase N Brunetti-Pierri, G Corso, M Rossi, P Ferrari, F Balli, F Rivasi, ... The American Journal of Human Genetics 71 (4), 952-958, 2002 | 143 | 2002 |
| Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy LJC Wong, N Brunetti‐Pierri, Q Zhang, N Yazigi, KE Bove, BB Dahms, ... Hepatology 46 (4), 1218-1227, 2007 | 141 | 2007 |
