A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases

Autor: Yutaka Furuta, Rory J. Tinker, Rizwan Hamid, Joy D. Cogan, Kimberly M. Ezell, Devin Oglesbee, Ralph J. DeBerardinis, John A. Phillips, the Undiagnosed Diseases Network

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)

Abstract Background The number of known inherited metabolic diseases (IMDs) has been expanding, and the rate of diagnosis is improving with the development of innovative approaches including next generation sequencing (NGS). However, a substantial pr

Externí odkaz: https://doaj.org/article/5009f7b9676c4d17bda5092fd4409131

Phenotypic Presentation of Mendelian Disease Across the Diagnostic Trajectory in Electronic Health

Autor: Rory J Tinker, Records, Peterson, Josh, Bastarache, Lisa

Publikováno v: In Genetics in Medicine June 2023

Genomic Analyses of Potential Novel Recombinant Human Adenovirus C in Brazil

Autor: Roozbeh Tahmasebi, Antonio Charlys da Costa, Kaelan Tardy, Rory J. Tinker, Flavio Augusto de Padua Milagres, Rafael Brustulin, Maria da Aparecida Rodrigues Teles, Rogério Togisaki das Chagas, Cassia Vitória de Deus Alves Soares, Aripuana Sakurada Aranha Watanabe, Cecilia Salete Alencar, Fabiola Villanova, Xutao Deng, Eric Delwart, Adriana Luchs, Élcio Leal, Ester Cerdeira Sabino

Publikováno v: Viruses, Vol 12, Iss 5, p 508 (2020)

Human Adenovirus species C (HAdV-C) is the most common etiologic agent of respiratory disease. In the present study, we characterized the nearly full-length genome of one potential new HAdV-C recombinant strain constituted by Penton and Fiber protein

Externí odkaz: https://doaj.org/article/25fe59d9e2ae4971b308f4bfcc2997de

Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder

Autor: George J Burghel, Shruti Garg, Rory J Tinker, Maggie Steggall, Sara Cuvertino, Siddharth Banka

Publikováno v: Tinker, R J, Burghel, G J, Garg, S, Steggall, M, Cuvertino, S & Banka, S 2020, ' Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder ', American Journal of Medical Genetics Part A . https://doi.org/10.1002/ajmg.a.61905

We recently contributed to the description of eight individuals with a novel condition caused by 16p13.3 microdeletions encompassing TBC1D24, ATP6V0C, and PDPK1 and resulting in epilepsy, microcephaly and neurodevelopmental problems. The phenotypic s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a83af0049920346a596217dddc8eed0
https://doi.org/10.1002/ajmg.a.61905

Viral gastroenteritis in Tocantins, Brazil: characterizing the diversity of human adenovirus F through next-generation sequencing and bioinformatics

Autor: Owrang Eilami, Xutao Deng, Rafael Brustulin, Philip Michael Hefford, Roozbeh Tahmasebi, Flavio Augusto de Pádua Milagres, Eric Delwart, Vanessa dos Santos Morais, Ester Cerdeira Sabino, Élcio Leal, Antonio Charlys da Costa, Renata Buccheri, Rory J Tinker, Emerson Luiz Lima Araújo, Maria da Aparecida Rodrigues Teles, Fabiola Villanova, Kaelan Tardy, Carlos Henrique Valente Moreira, Adriana Luchs

Publikováno v: The Journal of general virology. 101(12)

Human enteric adenovirus species F (HAdV-F) is one of the most common pathogens responsible for acute gastroenteritis worldwide. Brazil is a country with continental dimensions where continuous multiregional surveillance is vital to establish a more

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9126feb191dd8b4ad13de0b320ef0ea
https://pubmed.ncbi.nlm.nih.gov/33044150