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Page 1
The GENESIS database and tools: A decade of discovery in Mendelian genomics.
Danzi MC, Powell E, Rebelo AP, Dohrn MF, Beijer D, Fazal S, Xu IRL, Medina J, Chen S, Arcia de Jesus Y, Schatzman J, Hershberger RE, Saporta M, Baets J, Falk M, Herrmann DN, Scherer SS, Reilly MM, Cortese A, Marques W, Cornejo-Olivas MR, Sanmaneechai O, Kennerson ML, Jordanova A, Silva TYT, Pedroso JL, Schierbaum L, Ebrahimi-Fakhari D, Peric S, Lee YC, Synofzik M, Tekin M, Ravenscroft G, Shy M, Basak N, Schule R, Zuchner S. Danzi MC, et al. Among authors: silva tyt. Exp Neurol. 2024 Dec;382:114978. doi: 10.1016/j.expneurol.2024.114978. Epub 2024 Sep 30. Exp Neurol. 2024. PMID: 39357594 Review.
Ataxias in Brazil: 17 years of experience in an ataxia center.
Massuyama BK, Gama MTD, Silva TYT, Braga-Neto P, Pedroso JL, Barsottini OGP. Massuyama BK, et al. Among authors: silva tyt. Arq Neuropsiquiatr. 2024 Aug;82(8):1-8. doi: 10.1055/s-0044-1787800. Epub 2024 Jul 4. Arq Neuropsiquiatr. 2024. PMID: 38964341 Free article. English.
Fragile X premutation mimicking late onset hereditary spastic paraplegia.
Fraiman PHA, Silva TYT, Marussi VHR, de Oliveira JB, Barsottini OGP, Pedroso JL. Fraiman PHA, et al. Among authors: silva tyt. Parkinsonism Relat Disord. 2024 Feb;119:105964. doi: 10.1016/j.parkreldis.2023.105964. Epub 2023 Dec 25. Parkinsonism Relat Disord. 2024. PMID: 38177000 No abstract available.
The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.
Quaio CRDC, Ceroni JRM, Pereira MA, Teixeira ACB, Yamada RY, Cintra VP, Perrone E, De França M, Chen K, Minillo RM, Biondo CA, de Mello MRB, Moura LR, do Nascimento ATB, de Oliveira Pelegrino K, de Lima LB, do Amaral Virmond L, Moreno CA, Prota JRM, de Araujo Espolaor JG, Silva TYT, Moraes GHI, de Oliveira GS, Moura LMS, Caraciolo MP, Guedes RLM, Gretschischkin MC, Chazanas PLN, Nakamura CNI, de Souza Reis R, Toledo CM, Lage FSD, de Almeida GB, do Nascimento Júnior JB, Cardoso MA, de Paula Azevedo V, de Almeida TF, Cervato MC, de Oliveira Filho JB. Quaio CRDC, et al. Among authors: silva tyt. Hum Genomics. 2023 Nov 16;17(1):102. doi: 10.1186/s40246-023-00549-6. Hum Genomics. 2023. PMID: 37968704 Free PMC article.
A journey through the history of Neurogenetics.
Silva TYT, Pedroso JL, França Junior MC, Barsottini OGP. Silva TYT, et al. Arq Neuropsiquiatr. 2021 Oct;79(10):929-932. doi: 10.1590/0004-282X-ANP-2020-0574. Arq Neuropsiquiatr. 2021. PMID: 34550174 Free article.