| Current and emerging clinical treatment in mitochondrial disease RJ Tinker, AZ Lim, RJ Stefanetti, R McFarland Molecular diagnosis & therapy 25, 181-206, 2021 | 57 | 2021 |
| Predictors of mortality and disability in stroke-associated pneumonia RJ Tinker, CJ Smith, C Heal, JH Bettencourt-Silva, AK Metcalf, JF Potter, ... Acta Neurologica Belgica 121, 379-385, 2021 | 41 | 2021 |
| First identification of mammalian orthoreovirus type 3 by gut virome analysis in diarrheic child in Brazil UA Rosa, GO Ribeiro, F Villanova, A Luchs, FAP Milagres, ... Scientific reports 9 (1), 18599, 2019 | 23 | 2019 |
| Viral gastroenteritis in Tocantins, Brazil: characterizing the diversity of human adenovirus F through next-generation sequencing and bioinformatics R Tahmasebi, A Luchs, K Tardy, PM Hefford, RJ Tinker, O Eilami, ... Journal of General Virology 101 (12), 1280-1288, 2020 | 22 | 2020 |
| Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder RJ Tinker, GJ Burghel, S Garg, M Steggall, S Cuvertino, S Banka American Journal of Medical Genetics Part A 185 (1), 196-202, 2021 | 12 | 2021 |
| Pentraxin 3 regulates neutrophil infiltration to the brain during neuroinflammation I Rajkovic, R Wong, E Lemarchand, R Tinker, SM Allan, E Pinteaux AMRC open research 1, 2019 | 11 | 2019 |
| A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype RJ Tinker, T Guess, DC Rinker, JH Sheehan, D Lubarsky, B Porath, ... Molecular Genetics & Genomic Medicine 10 (12), e2054, 2022 | 8 | 2022 |
| Genomic analyses of potential novel recombinant human adenovirus C in Brazil R Tahmasebi, AC da Costa, K Tardy, R J. Tinker, FA de Padua Milagres, ... Viruses 12 (5), 508, 2020 | 7 | 2020 |
| Norovirus strains in patients with acute gastroenteritis in rural and low-income urban areas in northern Brazil RJ Tinker, AC da Costa, R Tahmasebi, FAP Milagres, ... Archives of Virology 166, 905-913, 2021 | 6 | 2021 |
| The contribution of mosaicism to genetic diseases and de novo pathogenic variants RJ Tinker, L Bastarache, K Ezell, SN Kobren, C Esteves, JA Rosenfeld, ... American Journal of Medical Genetics Part A 191 (10), 2482-2492, 2023 | 3 | 2023 |
| Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis RJ Tinker, MJ Falk, A Goldstein, I George-Sankoh, R Xiao, L Adang, ... Molecular genetics and metabolism 135 (4), 342-349, 2022 | 3 | 2022 |
| Intraoperative Vasopressor Usage in Free Tissue Transfer: Should We Be Worried? SP Munro, C Chang, RJ Tinker, IB Anderson, GC Bedford, M Ragbir, ... Journal of Reconstructive Microsurgery 38 (01), 075-083, 2022 | 3 | 2022 |
| Phenotypic Presentation of Mendelian Disease Across the Diagnostic Trajectory in Electronic Health RJ Tinker, J Peterson, L Bastarache Genetics in Medicine, 100921, 2023 | 2 | 2023 |
| Fibrous myopathy induced by intramuscular injections of cyclizine RJ Tinker, R Wiltshire, D Du Plessis, JB Lilleker BMJ Case Reports CP 13 (5), e233544, 2020 | 2 | 2020 |
| Probable digenic inheritance of Diamond–Blackfan anemia Y Furuta, RJ Tinker, A Gulsevin, SM Neumann, R Hamid, JD Cogan, ... American Journal of Medical Genetics Part A, 2023 | 1 | 2023 |
| Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase AG Jones, M Aquilino, RJ Tinker, L Duncan, Z Jenkins, GL Carvill, ... The American Journal of Human Genetics 111 (4), 729-741, 2024 | | 2024 |
| A review of multiple diagnostic approaches in the Undiagnosed Diseases Network to identify inherited metabolic diseases Y Furuta, R Tinker, R Hamid, J Cogan, K Ezell, D Oglesbee, ... Molecular Genetics and Metabolism 141 (4), 108282, 2024 | | 2024 |
| Reanalysis of undiagnosed disease reveals formerly recessive congenital disorder of glycosylation, type Iw due to de novo STT3A variant K Ezell, Y Furuta, R Tinker, B Corner, S Neumann, R Hamid, J Cogan, ... Molecular Genetics and Metabolism 141 (4), 108281, 2024 | | 2024 |
| Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant KM Ezell, RJ Tinker, Y Furuta, A Gulsevin, L Bastarache, R Hamid, ... American Journal of Medical Genetics Part A, e63597, 2024 | | 2024 |
| Diagnostic delay in monogenic disease: a scoping review RJ Tinker, M Fisher, AF Gimeno, K Gill, C Ivey, JF Peterson, L Bastarache Genetics in Medicine, 101074, 2024 | | 2024 |
Ester Cerdeira SabinoUniversidade de Sao PauloDirección de correo verificada de usp.br
