Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: CYP2D6: 1094G>A; R365H; rs1058172
A Pharmacogenomic Dissection of a Rosuvastatin-Induced Rhabdomyolysis Case Evokes the Polygenic Nature of Adverse Drug Reactions.
Pharmacogenomics And Personalized Medicine
Calderon-Ospina, Carlos Alberto CA; Hernández-Sómerson, Mario M; García, Ana María AM; Mejia, Adriana A; Tamayo-Agudelo, Caroll C; Laissue, Paul P; Fonseca Mendoza, Dora Janeth DJ
Publication Date: 2020
Variant appearance in text: CYP2D6: 1094G>A; Arg365His; rs1058172
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10
Variant appearance in text: CYP2D6: 1094G>A; Arg365His
Interrogation of CYP2D6 Structural Variant Alleles Improves the Correlation Between CYP2D6 Genotype and CYP2D6-Mediated Metabolic Activity.
Clinical And Translational Science
Dalton, Rachel R; Lee, Seung-Been SB; Claw, Katrina G KG; Prasad, Bhagwat B; Phillips, Brian R BR; Shen, Danny D DD; Wong, Lai Hong LH; Fade, Mitch M; McDonald, Matthew G MG; Dunham, Maitreya J MJ; Fowler, Douglas M DM; Rettie, Allan E AE; Schuetz, Erin E; Thornton, Timothy A TA; Nickerson, Deborah A DA; Gaedigk, Andrea A; Thummel, Kenneth E KE; Woodahl, Erica L EL
Publication Date: 2020-01
Variant appearance in text: CYP2D6: R365H; rs1058172
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.
Cold Spring Harbor Molecular Case Studies
Lu, Charles C; Riedell, Peter P; Miller, Christopher A CA; Hagemann, Ian S IS; Westervelt, Peter P; Ozenberger, Bradley A BA; O'Laughlin, Michelle M; Magrini, Vincent V; Demeter, Ryan T RT; Duncavage, Eric J EJ; Griffith, Malachi M; Griffith, Obi L OL; Wartman, Lukas D LD
Publication Date: 2016-01
Variant appearance in text: CYP2D6: R365H; rs1058172
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24
Variant appearance in text: CYP2D6: 1094G>A; R365H; rs1058172