| Maple syrup urine disease: mechanisms and management PR Blackburn, JM Gass, FPE Vairo, KM Farnham, HK Atwal, S Macklin, ... The application of clinical genetics, 57-66, 2017 | 200 | 2017 |
| De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias KL Helbig, RJ Lauerer, JC Bahr, IA Souza, CT Myers, B Uysal, N Schwarz, ... The American Journal of Human Genetics 103 (5), 666-678, 2018 | 111 | 2018 |
| A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia SE Flanagan, F Vairo, MB Johnson, R Caswell, TW Laver, H Lango Allen, ... Pediatric diabetes 18 (4), 320-323, 2017 | 89 | 2017 |
| Enzyme replacement therapy for Fabry disease: a systematic review and meta-analysis T Alegra, F Vairo, MV de Souza, BC Krug, IVD Schwartz Genetics and molecular biology 35, 947-954, 2012 | 81 | 2012 |
| A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease FP e Vairo, BC Chwal, S Perini, MAP Ferreira, AC de Freitas Lopes, ... Molecular genetics and metabolism 126 (1), 6-13, 2019 | 77 | 2019 |
| Diagnostic and treatment strategies in mucopolysaccharidosis VI F Vairo, A Federhen, G Baldo, M Riegel, M Burin, S Leistner-Segal, ... The application of clinical genetics, 245-255, 2015 | 75 | 2015 |
| Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy DC Pant, I Dorboz, A Schluter, S Fourcade, N Launay, J Joya, ... The Journal of clinical investigation 129 (3), 1240-1256, 2019 | 69 | 2019 |
| Phenylketonuria and gut microbiota: a controlled study based on next-generation sequencing F Pinheiro de Oliveira, RH Mendes, PT Dobbler, V Mai, VS Pylro, ... PLoS One 11 (6), e0157513, 2016 | 66 | 2016 |
| Emerging drugs for the treatment of mucopolysaccharidoses R Giugliani, A Federhen, F Vairo, C Vanzella, G Pasqualim, LMR Da Silva, ... Expert opinion on emerging drugs 21 (1), 9-26, 2016 | 65 | 2016 |
| Lysosomal diseases: Overview on current diagnosis and treatment FO Poswar, F Vairo, M Burin, K Michelin-Tirelli, AC Brusius-Facchin, ... Genetics and molecular biology 42, 165-177, 2019 | 56 | 2019 |
| Neuroimaging findings in patients with mucopolysaccharidosis: what you really need to know R Reichert, LG Campos, F Vairo, CFM de Souza, JA Pérez, JÁ Duarte, ... Radiographics 36 (5), 1448-1462, 2016 | 53 | 2016 |
| Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression E Giorgio, H Rolyan, L Kropp, AB Chakka, S Yatsenko, ED Gregorio, ... Human mutation 34 (8), 1160-1171, 2013 | 49 | 2013 |
| Mucopolysaccharidosis type I F Kubaski, F de Oliveira Poswar, K Michelin-Tirelli, US Matte, DD Horovitz, ... Diagnostics 10 (3), 161, 2020 | 46 | 2020 |
| Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor β signaling BV Johnson, R Kumar, S Oishi, S Alexander, M Kasherman, MS Vega, ... Biological psychiatry 87 (2), 100-112, 2020 | 45 | 2020 |
| Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS R Giugliani, F Vairo, F Kubaski, F Poswar, M Riegel, G Baldo, JA Saute The Lancet Child & Adolescent Health 2 (1), 56-68, 2018 | 44 | 2018 |
| Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis AD Dornelles, O Artigalás, AA Da Silva, DLV Ardila, T Alegra, TV Pereira, ... PLoS One 12 (8), e0184065, 2017 | 40 | 2017 |
| Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis F Sperb, F Vairo, M Burin, FQ Mayer, U Matte, R Giugliani Gene 512 (1), 113-116, 2013 | 39 | 2013 |
| Biomolecules damage and redox status abnormalities in Fabry patients before and during enzyme replacement therapy GB Biancini, CE Jacques, T Hammerschmidt, HM de Souza, B Donida, ... Clinica Chimica Acta 461, 41-46, 2016 | 35 | 2016 |
| Impact of integrated translational research on clinical exome sequencing EW Klee, MA Cousin, F Pinto e Vairo, JA Morales-Rosado, EL Macke, ... Genetics in Medicine 23 (3), 498-507, 2021 | 33 | 2021 |
| Living related versus deceased donor liver transplantation for maple syrup urine disease F Feier, IVD Schwartz, AR Benkert, JS Neto, I Miura, P Chapchap, ... Molecular genetics and metabolism 117 (3), 336-343, 2016 | 33 | 2016 |
