[HTML][HTML] Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences
…, S Herd, M Gibson, JA Cakici, AK Riffel… - NPJ genomic …, 2016 - nature.com
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 …
to guide lifelong healthcare—is electronic decision support to inform drug choice and …
[HTML][HTML] CYP2D6 haplotype determination using long range allele-specific amplification: resolution of a complex genotype and a discordant genotype involving the …
A Gaedigk, AK Riffel, JS Leeder - The Journal of Molecular Diagnostics, 2015 - Elsevier
Cytochrome P450 (CYP) 2D6, a major contributor to the metabolism and bioactivation of many
clinically used drugs, is encoded by a complex, highly polymorphic gene locus. To aid in …
clinically used drugs, is encoded by a complex, highly polymorphic gene locus. To aid in …
Developmental expression of CYP2B6: a comprehensive analysis of mRNA expression, protein content and bupropion hydroxylase activity and the impact of genetic …
Although CYP2B6 catalyzes the biotransformation of many drugs used clinically for children
and adults, information regarding the effects of development on CYP2B6 expression and …
and adults, information regarding the effects of development on CYP2B6 expression and …
Cotinine in human placenta predicts induction of gene expression in fetal tissues
CA Vyhlidal, AK Riffel, KJ Haley, S Sharma… - Drug Metabolism and …, 2013 - ASPET
Maternal cigarette smoking during pregnancy is associated with increased risk of perinatal
morbidity and mortality. However, the mechanisms underlying adverse birth outcomes …
morbidity and mortality. However, the mechanisms underlying adverse birth outcomes …
[HTML][HTML] SNP genotyping using TaqMan® technology: the CYP2D6*17 assay conundrum
A Gaedigk, N Freeman, T Hartshorne, AK Riffel… - Scientific reports, 2015 - nature.com
CYP2D6 contributes to the metabolism of many clinically used drugs and is increasingly
tested to individualize drug therapy. The CYP2D6 gene is challenging to genotype due to the …
tested to individualize drug therapy. The CYP2D6 gene is challenging to genotype due to the …
Regulation of the CYP3A4 and CYP3A7 promoters by members of the nuclear factor I transcription factor family
AK Riffel, E Schuenemann, CA Vyhlidal - Molecular pharmacology, 2009 - ASPET
Despite the established interindividual variability and ontogeny of the CYP3A enzymes, the
most abundant phase I drug-metabolizing enzymes in human liver and intestine, the …
most abundant phase I drug-metabolizing enzymes in human liver and intestine, the …
[HTML][HTML] CYP2D7 sequence variation interferes with TaqMan CYP2D6* 15 and* 35 genotyping
AK Riffel, M Dehghani, T Hartshorne… - Frontiers in …, 2016 - frontiersin.org
TaqMan™ genotyping assays are widely used to genotype CYP2D6, which encodes a major
drug metabolizing enzyme. Assay design for CYP2D6 can be challenging owing to the …
drug metabolizing enzyme. Assay design for CYP2D6 can be challenging owing to the …
Characterization of a complex CYP2D6 genotype that caused an AmpliChip CYP450 Test® no-call in the clinical setting
A Gaedigk, AK Riffel, BG Berrocal… - Clinical Chemistry and …, 2014 - degruyter.com
Background: CYP2D6, a major drug-metabolizing enzyme, is encoded by a highly polymorphic
and complex gene locus. We have identified a patient who failed to produce a CYP2D6 …
and complex gene locus. We have identified a patient who failed to produce a CYP2D6 …
Erratum: constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences
…, S Herd, M Gibson, JA Cakici, AK Riffel… - NPJ genomic …, 2017 - pubmed.ncbi.nlm.nih.gov
… Greyson P Twist, Andrea Gaedigk, Neil A Miller, Emily G Farrow, Laurel K Willig, Darrell L
Dinwiddie, Josh E Petrikin, Sarah E Soden, Suzanne Herd, Margaret Gibson, Julie A Cakici …
Dinwiddie, Josh E Petrikin, Sarah E Soden, Suzanne Herd, Margaret Gibson, Julie A Cakici …
Detecting gene expression in buccal mucosa in subjects with asthma versus subjects without asthma
CA Vyhlidal, AK Riffel, H Dai… - Pediatric Allergy and …, 2013 - Wiley Online Library
Background Differences in mRNA expression for inflammatory markers have been observed
between subjects with asthma vs. controls and in relation to corticosteroid response. …
between subjects with asthma vs. controls and in relation to corticosteroid response. …