[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 …

[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 …

Developmental expression of CYP2B6: a comprehensive analysis of mRNA expression, protein content and bupropion hydroxylase activity and the impact of genetic …

RE Pearce, R Gaedigk, GP Twist, H Dai, AK Riffel… - Drug Metabolism and …, 2016 - ASPET
Although CYP2B6 catalyzes the biotransformation of many drugs used clinically for children
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 …

[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 …

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 …

[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 …

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 …

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 …

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. …