Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Ty C. Lynnes"'
Autor:
Tyler Shugg, Reynold C. Ly, Wilberforce Osei, Elizabeth J. Rowe, Caitlin A. Granfield, Ty C. Lynnes, Elizabeth B. Medeiros, Jennelle C. Hodge, Amy M. Breman, Bryan P. Schneider, S. Cenk Sahinalp, Ibrahim Numanagić, Benjamin A. Salisbury, Steven M. Bray, Ryan Ratcliff, Todd C. Skaar
Publikováno v:
Frontiers in Oncology, Vol 13 (2023)
BackgroundNext-generation sequencing (NGS), including whole genome sequencing (WGS) and whole exome sequencing (WES), is increasingly being used for clinic care. While NGS data have the potential to be repurposed to support clinical pharmacogenomics
Externí odkaz:
https://doaj.org/article/0e19f26f16c14c318fbd190942dc1299
Autor:
Katherine A. Hargreaves, Victoria M. Pratt, Elizabeth B. Medeiros, Ty C. Lynnes, Caitlin A. Granfield, Todd C. Skaar, Aiko Iwata‐Otsubo, Emma M. Tillman
Publikováno v:
Clinical and Translational Science, Vol 14, Iss 2, Pp 497-501 (2021)
Patients in the pediatric intensive care unit are exposed to multiple medications and are at high risk for adverse drug reactions. Pharmacogenomic (PGx) testing could help decrease their risk of adverse reactions. Although whole blood is preferred fo
Externí odkaz:
https://doaj.org/article/be3410c7e0734797a5af2cb93ac991d4
Autor:
Katelyn Hodge, Katherine G. Spoonamore, Christopher B. Griffith, David D. Weaver, Patricia B.S. Celestino-Soper, Ty C. Lynnes, Hongyu Gao, Yunlong Liu, Matteo Vatta
Publikováno v:
Cardiogenetics, Vol 5, Iss 1 (2015)
We report on the process of post mortem evaluation and genetic testing following the death of a 25-year-old man due to ascending aortic dissection leading to aortic rupture. Following the negative clinical testing of a 12- gene thoracic aortic aneury
Externí odkaz:
https://doaj.org/article/536811a2a55c4c9b82c00896da003213
Autor:
Victoria M. Pratt, Wendy Y. Wang, Erin C. Boone, Ulrich Broeckel, Neal Cody, Lisa Edelmann, Andrea Gaedigk, Ty C. Lynnes, Elizabeth B. Medeiros, Ann M. Moyer, Matthew W. Mitchell, Stuart A. Scott, Petr Starostik, Amy Turner, Lisa V. Kalman
Publikováno v:
The Journal of Molecular Diagnostics. 24:1079-1088
Autor:
Lisa V. Kalman, Andrea Gaedigk, Victoria M. Pratt, Deborah Requesens, Ty C. Lynnes, Francesco Vetrini, Ulrich Broeckel, D. Brian Dawson, Amy Turner, Elizabeth B. Medeiros, Ann M. Moyer
Publikováno v:
The Journal of Molecular Diagnostics. 23:952-958
Pharmacogenetic testing is increasingly available from clinical and research laboratories. However, only a limited number of quality control and other reference materials are currently available for many of the variants that are tested. The Associati
Autor:
Reynold C. Ly, Tyler Shugg, Ryan Ratcliff, Wilberforce Osei, Ty C. Lynnes, Victoria M. Pratt, Bryan P. Schneider, Milan Radovich, Steven M. Bray, Benjamin A. Salisbury, Baiju Parikh, S. Cenk Sahinalp, Ibrahim Numanagić, Todd C. Skaar
Publikováno v:
J Mol Diagn
Germline whole exome sequencing from molecular tumor boards has the potential to be repurposed to support clinical pharmacogenomics. However, accurately calling pharmacogenomics-relevant genotypes from exome sequencing data remains challenging. Accor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68d33d88b595ae49bc5be912d2e471fd
https://europepmc.org/articles/PMC9227988/
https://europepmc.org/articles/PMC9227988/
Autor:
Todd C. Skaar, Caitlin A Granfield, Emma M. Tillman, Victoria M. Pratt, Aiko Iwata-Otsubo, Katherine A. Hargreaves, Ty C. Lynnes, Elizabeth B. Medeiros
Publikováno v:
Clinical and Translational Science
Clinical and Translational Science, Vol 14, Iss 2, Pp 497-501 (2021)
Clinical and Translational Science, Vol 14, Iss 2, Pp 497-501 (2021)
Pediatric intensive care unit (PICU) patients are exposed to multiple medications and are at high risk for adverse drug reactions. Pharmacogenomic (PGx) testing could help decrease their risk of adverse reactions. Although whole blood is preferred fo
Autor:
Pinar Bayrak-Toydemir, Junqing Shen, Rong Mao, James D. Metcalf, Victoria M. Pratt, Aiko Iwata-Otsubo, Thomas W. Prior, Ty C. Lynnes, Shumaila Qureshi, Ha T. Pham, Francesco Vetrini, Kasinathan Muralidharan, Lisa V. Kalman, Deborah Requesens
Publikováno v:
The Journal of Molecular Diagnostics. 23:103-110
Spinal muscular atrophy (SMA) is an autosomal recessive disorder predominately caused by bi-allelic loss of the SMN1 gene. Increased copies of SMN2, a low functioning nearly identical paralog, are associated with a less severe phenotype. SMA was rece
Autor:
Patrícia B S Celestino-Soper, Anisiia Doytchinova, Hillel A Steiner, Andrea Uradu, Ty C Lynnes, William J Groh, John M Miller, Hai Lin, Hongyu Gao, Zhiping Wang, Yunlong Liu, Peng-Sheng Chen, Matteo Vatta
Publikováno v:
PLoS ONE, Vol 11, Iss 1, p e0147455 (2016)
Externí odkaz:
https://doaj.org/article/da04ac1d6e57448db5b41ba7666a648d
Autor:
Georgianne Younger, Victoria M. Pratt, Kayla Treat, Francesco Vetrini, David D. Weaver, Ty C. Lynnes, Wilfredo Torres-Martinez
Publikováno v:
American Journal of Medical Genetics Part A. 182:2501-2507
EVEN-PLUS syndrome is a rare condition characterized by its involvement of the Epiphyses, Vertebrae, Ears, and Nose, PLUS other associated findings. We report here the fifth case of EVEN-PLUS syndrome with novel variants c.818 T > G (p.L273X) and c.9