R
Rachel Lorier
Researcher at Medical College of Wisconsin
Publications - 15
Citations - 902
Rachel Lorier is an academic researcher from Medical College of Wisconsin. The author has contributed to research in topics: Genotyping & Exome sequencing. The author has an hindex of 10, co-authored 15 publications receiving 806 citations.
Papers
More filters
Journal ArticleDOI
An autoinflammatory disease due to homozygous deletion of the IL1RN locus.
Sreelatha T. Reddy,Shuang Jia,Rhonda Geoffrey,Rachel Lorier,Mariko Suchi,Ulrich Broeckel,Martin J. Hessner,James W. Verbsky +7 more
TL;DR: A patient with an autoinflammatory disease in which the main clinical features are pustular rash, marked osteopenia, lytic bone lesions, respiratory insufficiency, and thrombosis is described, which contains a 175-kb homozygous deletion at chromosome 2q13, which encompasses several interleukin-1 family members.
Journal ArticleDOI
Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project
Victoria M. Pratt,Robin E. Everts,Praful Aggarwal,Brittany N. Beyer,Ulrich Broeckel,Ruth Epstein-Baak,Paul Hujsak,Ruth Kornreich,Jun Liao,Rachel Lorier,Stuart A. Scott,Chingying Huang Smith,Lorraine Toji,Amy Turner,Lisa V. Kalman +14 more
TL;DR: In this paper, the Coriell cell lines were selected based on ethnic diversity and partial genotype characterization from earlier testing, and DNA samples were coded and distributed to volunteer testing laboratories for targeted genotyping using a number of commercially available and laboratory developed tests.
Journal ArticleDOI
A clinician-driven automated system for integration of pharmacogenetic interpretations into an electronic medical record.
J K Hicks,Kristine R. Crews,James M. Hoffman,Nancy Kornegay,Mark R. Wilkinson,Rachel Lorier,Alexander Stoddard,Wenjian Yang,Colton Smith,Christian A. Fernandez,Shane J Cross,Cyrine E. Haidar,Donald K. Baker,Scott C. Howard,William E. Evans,Ulrich Broeckel,Mary V. Relling +16 more
TL;DR: Processes for incorporating pharmacogenetic tests and interpretations into the EMR for clinical practice and translating the growing number of genetic variants into interpretive consultations to facilitate gene‐based drug prescribing are described.
Journal ArticleDOI
IL-10 Produced by Induced Regulatory T Cells (iTregs) Controls Colitis and Pathogenic Ex-iTregs during Immunotherapy
Erica G. Schmitt,Dipica Haribhai,Jason B. Williams,Praful Aggarwal,Shuang Jia,Louis-Marie Charbonnier,Ke Yan,Rachel Lorier,Amy Turner,Jennifer Ziegelbauer,Peter Georgiev,Pippa Simpson,Nita H. Salzman,Martin J. Hessner,Ulrich Broeckel,Talal A. Chatila,Calvin B. Williams +16 more
TL;DR: A dynamic IL-10–dependent functional reciprocity between regulatory T cell subsets that maintains mucosal tolerance is identified and promoted by the niche supporting stable iTregs, which promotes a large population of ex-iTregs with pathogenic potential during immunotherapy.
Journal ArticleDOI
Signal transducer of inflammation gp130 modulates atherosclerosis in mice and man
Maren Luchtefeld,Heribert Schunkert,Monika Stoll,Tina Selle,Rachel Lorier,Karsten Grote,Christian Sagebiel,Kumaravelu Jagavelu,Uwe J. F. Tietge,Ulrike Assmus,Konrad L. Streetz,Christian Hengstenberg,Marcus Fischer,Björn Mayer,Karen Maresso,Nour Eddine El Mokhtari,Stefan Schreiber,Werner Müller,Udo Bavendiek,Christina Grothusen,Helmut Drexler,Christian Trautwein,Ulrich Broeckel,Bernhard Schieffer +23 more
TL;DR: The results reveal a central role of a hepatocyte-specific, gp130-dependent acute phase reaction for plaque development in a murine model of atherosclerosis, and further implicate IL6ST as a genetic susceptibility factor for CAD and MI in humans.