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| 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 | 173 | 2013 |
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| 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 | 144 | 2014 |
| 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 | 125 | 2007 |
| 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 | 123 | 2013 |
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| 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 | 114 | 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 | 113 | 2002 |
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