K
Katrina M. Dipple
Researcher at University of Washington
Publications - 94
Citations - 4143
Katrina M. Dipple is an academic researcher from University of Washington. The author has contributed to research in topics: Glycerol kinase & Glycerol kinase deficiency. The author has an hindex of 28, co-authored 80 publications receiving 3568 citations. Previous affiliations of Katrina M. Dipple include Indiana University – Purdue University Indianapolis & Seattle Children's.
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Journal ArticleDOI
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Hane Lee,Joshua L. Deignan,Naghmeh Dorrani,Samuel P. Strom,Sibel Kantarci,Fabiola Quintero-Rivera,Kingshuk Das,Traci Toy,Bret Harry,Michael Yourshaw,Michelle Fox,Brent L. Fogel,Julian A. Martinez-Agosto,Derek Wong,Vivian Y. Chang,Perry B. Shieh,Christina G.S. Palmer,Katrina M. Dipple,Wayne W. Grody,Eric Vilain,Stanley F. Nelson +20 more
TL;DR: Initial clinical indications for CES referrals and molecular diagnostic rates for different indications and for different test types are reported, and trio-CES was associated with higher molecular diagnostic yield than proband-Ces or traditional molecular diagnostic methods.
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Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics.
TL;DR: One of the firmly held concepts in human molecular genetics has been that, if the details of specific genetic mutations and their effects on protein products are understood, the authors will be better able to correlate genotype with phenotype.
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Validation of candidate causal genes for obesity that affect shared metabolic pathways and networks.
Xia Yang,Joshua L. Deignan,Hongxiu Qi,Jun Zhu,Su Qian,Judy Zhong,Gevork Torosyan,Sana Majid,Brie Falkard,Robert R. Kleinhanz,Jenny C Karlsson,Lawrence W. Castellani,Sheena Mumick,Kai Wang,Tao Xie,Michael Coon,Chunsheng Zhang,Daria Estrada-Smith,Charles R. Farber,Susanna S. Wang,Atila van Nas,Anatole Ghazalpour,Bin Zhang,Douglas J. MacNeil,John Lamb,Katrina M. Dipple,Marc L. Reitman,Margarete Mehrabian,Pek Yee Lum,Eric E. Schadt,Aldons J. Lusis,Thomas A. Drake +31 more
TL;DR: Liver expression signatures revealed alterations in common metabolic pathways and networks contributing to abdominal obesity and overlapped with a macrophage-enriched metabolic network module that is highly associated with metabolic traits in mice and humans.
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Modifier genes convert "simple" Mendelian disorders to complex traits.
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Single-Gene Disorders: What Role Could Moonlighting Enzymes Play?
TL;DR: In this review, it is proposed that moonlighting enzymes (i.e., metabolic enzymes with additional functional activities) could contribute to the complexity of single-gene disorders with "simple" Mendelian inheritance.