Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Greyson P Twist"'
Autor:
Katrin Sangkuhl, Neil A. Miller, Greyson P Twist, Michelle Whirl-Carrillo, Teri E. Klein, Andrea Gaedigk
Publikováno v:
Clinical Pharmacology and Therapeutics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ac8d6dbd5264b4551b45d681027090e
https://doi.org/10.1002/cpt.1275
https://doi.org/10.1002/cpt.1275
Autor:
Neil A. Miller, Andrea Gaedigk, Greyson P Twist, Emily G. Farrow, Sarah E Soden, Jennifer Lowry
Publikováno v:
Pharmacogenomics. 18(5)
CYP2D6*84 was first described in a Black South African subject, however, its function remains unknown. Astrolabe, a probabilistic scoring tool developed in our laboratory to call genotypes from whole genome sequence, identified CYP2D6*84 in a trio. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91f15a8d8b8c4ea6914acf904f4d2e94
https://pubmed.ncbi.nlm.nih.gov/28290770
https://pubmed.ncbi.nlm.nih.gov/28290770
Autor:
Andrea Gaedigk, Roger Gaedigk, J. Steven Leeder, Hongying Dai, Amanda K. Riffel, Greyson P Twist, Robin E. Pearce
Although CYP2B6 catalyzes the biotransformation of many drugs used clinically for children and adults, information regarding the effects of development on CYP2B6 expression and activity are scarce. Utilizing a large panel of human liver samples (201
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a54e068a9c639eae6dee427b89c6121
https://europepmc.org/articles/PMC4931886/
https://europepmc.org/articles/PMC4931886/
Autor:
Julie A. Cakici, Darrell L. Dinwiddie, Laurel K. Willig, Margaret Gibson, J. Steven Leeder, Josh E Petrikin, Stephen F. Kingsmore, Amanda K. Riffel, Andrea Gaedigk, Suzanne Herd, Greyson P Twist, Emily G. Farrow, Deendayal Dinakarpandian, Sarah E Soden, Neil A. Miller
Publikováno v:
NPJ Genomic Medicine
An important component of precision medicine—the use of whole-genome sequencing (WGS) to guide lifelong healthcare—is electronic decision support to inform drug choice and dosing. To achieve this, automated identification of genetic variation in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22c3d51f4f64d926dcd2b1d5c158e020
https://doi.org/10.1038/npjgenmed.2015.7
https://doi.org/10.1038/npjgenmed.2015.7
Autor:
Julie A. Cakici, Laurel K. Willig, Carol J Saunders, Adam Walter, Severine Catreux, Laurie D. Smith, Isabelle Thiffault, Lisa Ann Krivohlavek, Josh E Petrikin, Mike Ruehle, Suzanne Herd, Darrell L. Dinwiddie, Margaret Gibson, Tyler Marrs, Stephen F. Kingsmore, Sarah E Soden, Shane Corder, Byunggil Yoo, Greyson P Twist, Emily G. Farrow, Neil A. Miller
Publikováno v:
Genome Medicine
While the cost of whole genome sequencing (WGS) is approaching the realm of routine medical tests, it remains too tardy to help guide the management of many acute medical conditions. Rapid WGS is imperative in light of growing evidence of its utility
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca7b9e2b6d25056bcb6aee4a2bb8f43b
https://doi.org/10.1186/s13073-015-0221-8
https://doi.org/10.1186/s13073-015-0221-8
Autor:
Lauren E. Grote, Greyson P Twist, Mukta Sharma, Nicole P. Safina, Emily G. Farrow, Carol J Saunders, Janda L Jenkins, Nikita Raje, Stephen F. Kingsmore, Isabelle Thiffault, Holly I Welsh, Kristi Canty, Neil A. Miller, Lee Zellmer, David L. Zwick
Publikováno v:
BMC Medical Genetics
Background Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage, often leading to immunodeficiency, growth retardation and increased risk of malignancy. Case presentation We perform
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fe544a511d95c208f58b96d0168f255
https://doi.org/10.1186/s12881-015-0177-y
https://doi.org/10.1186/s12881-015-0177-y
Autor:
Sarah L Tsai, Carol J Saunders, Julie A. Cakici, Greyson P Twist, Isabelle Thiffault, Emily G. Farrow, Laurel K. Willig, Shannon L. Carpenter, Howard W. Kilbride, Ryan McDonough, Mitchell Creed, Ryan T. Fischer, Josh E Petrikin, J Allyson Hays, Jamie L Rosterman, Aaron Noll, Mark A. Clements, Laurie D. Smith, Sarah E Soden, Stephen F. Kingsmore, Suzanne Herd, Lee Zellmer, Neil A. Miller, Patria M Alba
Publikováno v:
The Lancet. Respiratory medicine. 3(5)
Summary Background Genetic disorders and congenital anomalies are the leading causes of infant mortality. Diagnosis of most genetic diseases in neonatal and paediatric intensive care units (NICU and PICU) is not sufficiently timely to guide acute cli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a3b58a723f5a623c9c545c5f66de650
https://pubmed.ncbi.nlm.nih.gov/25937000
https://pubmed.ncbi.nlm.nih.gov/25937000
Autor:
Laurel K. Willig, Ann C. Modrcin, Zhaohui Ye, Nicole P. Safina, Darrell L. Dinwiddie, Aaron Noll, Carol J Saunders, Xuan Yuan, Josh E Petrikin, Sarah S. Nyp, Robert A. Brodsky, Britton Zuccarelli, Mitchell Creed, Jean Baptiste LePichon, Neil A. Miller, Laurie D. Smith, Isabelle Thiffault, Lee Zellmer, Suzanne Herd, Andrea M. Atherton, Sarah E Soden, Bryce A. Heese, Ahmed Abdelmoity, Greyson P Twist, Emily G. Farrow, Stephen F. Kingsmore, Ingrid A. Larson
Publikováno v:
Science Translational Medicine. 6
Neurodevelopmental disorders (NDDs) affect more than 3% of children and are attributable to single-gene mutations at more than 1000 loci. Traditional methods yield molecular diagnoses in less than one-half of children with NDD. Whole-genome sequencin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::451cbf91f767c881f986a572affa97ec
https://doi.org/10.1126/scitranslmed.3010076
https://doi.org/10.1126/scitranslmed.3010076
High-resolution melt (HRM) analysis using ‘release-on-demand’ dyes, such as EvaGreen® has the potential to resolve complex genotypes in situations where genotype interpretation is complicated by the presence of pseudogenes or allelic variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ef5c50be34cf5a465d928eded4d6140
https://europepmc.org/articles/PMC3866959/
https://europepmc.org/articles/PMC3866959/
Autor:
Hongying Dai, Robin E Pearce, Roger Gaedigk, J Steven Leeder, Andrea Gaedigk, Greyson P Twist, Amanda K. Riffel
Publikováno v:
The FASEB Journal. 27
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::06b47319cd83b7b7315b26ea4c40e6de
https://doi.org/10.1096/fasebj.27.1_supplement.270.1
https://doi.org/10.1096/fasebj.27.1_supplement.270.1