| TFEB links autophagy to lysosomal biogenesis C Settembre, C Di Malta, VA Polito, MG Arencibia, F Vetrini, S Erdin, ... science 332 (6036), 1429-1433, 2011 | 3231 | 2011 |
| A lysosome‐to‐nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB C Settembre, R Zoncu, DL Medina, F Vetrini, S Erdin, SU Erdin, T Huynh, ... The EMBO journal 31 (5), 1095-1108, 2012 | 2016 | 2012 |
| TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop C Settembre, R De Cegli, G Mansueto, PK Saha, F Vetrini, O Visvikis, ... Nature cell biology 15 (6), 647-658, 2013 | 1016 | 2013 |
| Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management L Meng, M Pammi, A Saronwala, P Magoulas, AR Ghazi, F Vetrini, ... JAMA pediatrics 171 (12), e173438-e173438, 2017 | 444 | 2017 |
| Reanalysis of clinical exome sequencing data P Liu, L Meng, EA Normand, F Xia, X Song, A Ghazi, J Rosenfeld, ... New England Journal of Medicine 380 (25), 2478-2480, 2019 | 261 | 2019 |
| 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 | 159 | 2013 |
| Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder EA Normand, A Braxton, S Nassef, PA Ward, F Vetrini, W He, V Patel, ... Genome medicine 10, 1-14, 2018 | 158 | 2018 |
| Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations SR Lalani, P Liu, JA Rosenfeld, LB Watkin, T Chiang, MS Leduc, W Zhu, ... The American Journal of Human Genetics 98 (2), 347-357, 2016 | 132 | 2016 |
| Generation of a Kupffer cell-evading adenovirus for systemic and liver-directed gene transfer R Khare, SM May, F Vetrini, EA Weaver, D Palmer, A Rosewell, N Grove, ... Molecular Therapy 19 (7), 1254-1262, 2011 | 99 | 2011 |
| Complex compound inheritance of lethal lung developmental disorders due to disruption of the TBX-FGF pathway JA Karolak, M Vincent, G Deutsch, T Gambin, B Cogné, O Pichon, ... The American Journal of Human Genetics 104 (2), 213-228, 2019 | 97 | 2019 |
| Modifications of adenovirus hexon allow for either hepatocyte detargeting or targeting with potential evasion from Kupffer cells JM Prill, S Espenlaub, U Samen, T Engler, E Schmidt, F Vetrini, ... Molecular Therapy 19 (1), 83-92, 2011 | 95 | 2011 |
| Haploinsufficiency of the chromatin remodeler BPTF causes syndromic developmental and speech delay, postnatal microcephaly, and dysmorphic features P Stankiewicz, TN Khan, P Szafranski, L Slattery, H Streff, F Vetrini, ... The American Journal of Human Genetics 101 (4), 503-515, 2017 | 94 | 2017 |
| Gene therapy with helper-dependent adenoviral vectors: current advances and future perspectives F Vetrini, P Ng Viruses 2 (9), 1886, 2010 | 94 | 2010 |
| Phenotypic expansion in DDX3X – a common cause of intellectual disability in females X Wang, JE Posey, JA Rosenfeld, CA Bacino, F Scaglia, LD Immken, ... Annals of clinical and translational neurology 5 (10), 1277-1285, 2018 | 84 | 2018 |
| Bi-allelic mutations in PKD1L1 are associated with laterality defects in humans F Vetrini, LCA D’Alessandro, ZC Akdemir, A Braxton, MS Azamian, ... The American Journal of Human Genetics 99 (4), 886-893, 2016 | 84 | 2016 |
| The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis F Vetrini, A Auricchio, J Du, B Angeletti, DE Fisher, A Ballabio, V Marigo Molecular and cellular biology, 2004 | 81 | 2004 |
| SR-A and SREC-I are Kupffer and endothelial cell receptors for helper-dependent adenoviral vectors P Piccolo, F Vetrini, P Mithbaokar, NC Grove, T Bertin, D Palmer, P Ng, ... Molecular Therapy 21 (4), 767-774, 2013 | 61 | 2013 |
| Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases AV Dharmadhikari, R Ghosh, BO Yuan, P Liu, H Dai, S Al Masri, J Scull, ... Genome medicine 11, 1-17, 2019 | 58 | 2019 |
| Sustained reduction of hyperbilirubinemia in Gunn rats after adeno-associated virus-mediated gene transfer of bilirubin UDP-glucuronosyltransferase isozyme 1A1 to skeletal muscle N Pastore, E Nusco, J Vaníkova, RM Sepe, F Vetrini, A McDonagh, ... Human gene therapy 23 (10), 1082-1089, 2012 | 57 | 2012 |
| Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and … J Zhang, T Gambin, B Yuan, P Szafranski, JA Rosenfeld, MA Balwi, ... Human genetics 136, 377-386, 2017 | 54 | 2017 |
