Amy J. Turner

发表

Comprehensive evaluation of AmpliSeq transcriptome, a novel targeted whole transcriptome RNA sequencing methodology for global gene expression analysis

D. Arnett, U. Broeckel, A. Turner, 2015, BMC Genomics.

Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel–Feil and Treacher Collins syndromes

P. Giampietro, U. Broeckel, L. Armstrong, 2015, American journal of medical genetics. Part A.

Human IL12RB1 expression is allele-biased and produces a novel IL12 response regulator

U. Broeckel, A. Turner, J. Routes, 2018, Genes & Immunity.

Whole-Exome Sequencing and hiPSC Cardiomyocyte Models Identify MYRIP, TRAPPC11, and SLC27A6 of Potential Importance to Left Ventricular Hypertrophy in an African Ancestry Population

D. Nickerson, Joshua D. Smith, D. Rao, 2021, Frontiers in Genetics.

IL-10 Produced by Induced Regulatory T Cells (iTregs) Controls Colitis and Pathogenic Ex-iTregs during Immunotherapy

T. Chatila, U. Broeckel, M. Hessner, 2012, The Journal of Immunology.

Ex-iTregs during Immunotherapy Pathogenic Cells (iTregs) Controls Colitis and IL-10 Produced by Induced Regulatory T

Williams, T. Chatila, U. Broeckel, 2012 .

PLCγ-dependent mTOR signalling controls IL-7-mediated early B cell development

U. Broeckel, H. Chi, G. Neale, 2017, Nature Communications.

Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles A GeT-RM Collaborative Project.

Andrea Gaedigk, Amy Turner, Robin E Everts, 2019, The Journal of molecular diagnostics : JMD.

Whole-exome Sequencing and an iPSC-Derived Cardiomyocyte Model Provides a Powerful Platform for Gene Discovery in Left Ventricular Hypertrophy

D. Rao, H. Tiwari, C. Gu, 2012, Front. Gene..

Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project.

Ulrich Broeckel, Victoria M Pratt, Amy Turner, 2016, The Journal of molecular diagnostics : JMD.

Characterization of complex structural variation in the CYP2D6-CYP2D7-CYP2D8 gene loci using single-molecule long-read sequencing

U. Broeckel, A. Gaedigk, M. Berres, 2023, Frontiers in Pharmacology.

Characterization of Novel CYP2D6 Alleles across Sub-Saharan African Populations

S. Hazelhurst, U. Broeckel, C. Nofziger, 2022, Journal of personalized medicine.

PharmVar GeneFocus: CYP2D6

M. Whirl‐Carrillo, K. Sangkuhl, T. Klein, 2019, Clinical pharmacology and therapeutics.

Pharmacogene Variation Consortium Gene Introduction: NUDT15

Neil A. Miller, M. Whirl‐Carrillo, T. Klein, 2018, Clinical pharmacology and therapeutics.

RNA Expression Profiling of Human iPSC-Derived Cardiomyocytes in a Cardiac Hypertrophy Model

D. Arnett, U. Broeckel, S. Kattman, 2014, PloS one.

The introduction of RNA-DNA differences underlies interindividual variation in the human IL12RB1 mRNA repertoire

Halli E. Miller, U. Broeckel, A. Turner, 2015, Proceedings of the National Academy of Sciences.

Characterization of Reference Materials for CYP3A4 and CYP3A5: A GeT-RM Collaborative Project.

U. Broeckel, R. V. van Schaik, A. Gaedigk, 2023, The Journal of molecular diagnostics : JMD.

Challenges in clinical implementation of CYP2D6 genotyping: choice of variants to test affects phenotype determination

M. Relling, U. Broeckel, Wenjian Yang, 2019, Genetics in Medicine.