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Page 1
Disruption of protein quality control of the human ether-à-go-go related gene K+ channel results in profound long QT syndrome.
Ledford HA, Ren L, Thai PN, Park S, Timofeyev V, Sirish P, Xu W, Emigh AM, Priest JR, Perez MV, Ashley EA, Yarov-Yarovoy V, Yamoah EN, Zhang XD, Chiamvimonvat N. Ledford HA, et al. Among authors: priest jr. Heart Rhythm. 2022 Feb;19(2):281-292. doi: 10.1016/j.hrthm.2021.10.005. Epub 2021 Oct 9. Heart Rhythm. 2022. PMID: 34634443 Free PMC article.
Genomics in clinical practice.
Priest JR, Ashley EA. Priest JR, et al. Heart. 2014 Oct;100(20):1569-70. doi: 10.1136/heartjnl-2014-306111. Heart. 2014. PMID: 25063760 Free PMC article. No abstract available.
Early somatic mosaicism is a rare cause of long-QT syndrome.
Priest JR, Gawad C, Kahlig KM, Yu JK, O'Hara T, Boyle PM, Rajamani S, Clark MJ, Garcia ST, Ceresnak S, Harris J, Boyle S, Dewey FE, Malloy-Walton L, Dunn K, Grove M, Perez MV, Neff NF, Chen R, Maeda K, Dubin A, Belardinelli L, West J, Antolik C, Macaya D, Quertermous T, Trayanova NA, Quake SR, Ashley EA. Priest JR, et al. Proc Natl Acad Sci U S A. 2016 Oct 11;113(41):11555-11560. doi: 10.1073/pnas.1607187113. Epub 2016 Sep 28. Proc Natl Acad Sci U S A. 2016. PMID: 27681629 Free PMC article.
Epistasis regulates genetic control of cardiac hypertrophy.
Wang Q, Tang TM, Youlton N, Weldy CS, Kenney AM, Ronen O, Weston Hughes J, Chin ET, Sutton SC, Agarwal A, Li X, Behr M, Kumbier K, Moravec CS, Wilson Tang WH, Margulies KB, Cappola TP, Butte AJ, Arnaout R, Brown JB, Priest JR, Parikh VN, Yu B, Ashley EA. Wang Q, et al. Among authors: priest jr. medRxiv [Preprint]. 2024 May 4:2023.11.06.23297858. doi: 10.1101/2023.11.06.23297858. medRxiv. 2024. PMID: 37987017 Free PMC article. Preprint.
Epistasis regulates genetic control of cardiac hypertrophy.
Wang Q, Tang TM, Youlton N, Weldy CS, Kenney AM, Ronen O, Hughes JW, Chin ET, Sutton SC, Agarwal A, Li X, Behr M, Kumbier K, Moravec CS, Tang WHW, Margulies KB, Cappola TP, Butte AJ, Arnaout R, Brown JB, Priest JR, Parikh VN, Yu B, Ashley EA. Wang Q, et al. Among authors: priest jr. Res Sq [Preprint]. 2023 Nov 20:rs.3.rs-3509208. doi: 10.21203/rs.3.rs-3509208/v1. Res Sq. 2023. PMID: 38045390 Free PMC article. Preprint.
Learning epistatic polygenic phenotypes with Boolean interactions.
Behr M, Kumbier K, Cordova-Palomera A, Aguirre M, Ronen O, Ye C, Ashley E, Butte AJ, Arnaout R, Brown B, Priest J, Yu B. Behr M, et al. PLoS One. 2024 Apr 16;19(4):e0298906. doi: 10.1371/journal.pone.0298906. eCollection 2024. PLoS One. 2024. PMID: 38625909 Free PMC article.
Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data.
Dewey FE, Grove ME, Priest JR, Waggott D, Batra P, Miller CL, Wheeler M, Zia A, Pan C, Karzcewski KJ, Miyake C, Whirl-Carrillo M, Klein TE, Datta S, Altman RB, Snyder M, Quertermous T, Ashley EA. Dewey FE, et al. Among authors: priest jr. PLoS Genet. 2015 Oct 8;11(10):e1005496. doi: 10.1371/journal.pgen.1005496. eCollection 2015 Oct. PLoS Genet. 2015. PMID: 26448358 Free PMC article.
Medical implications of technical accuracy in genome sequencing.
Goldfeder RL, Priest JR, Zook JM, Grove ME, Waggott D, Wheeler MT, Salit M, Ashley EA. Goldfeder RL, et al. Among authors: priest jr. Genome Med. 2016 Mar 2;8(1):24. doi: 10.1186/s13073-016-0269-0. Genome Med. 2016. PMID: 26932475 Free PMC article.
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.
Priest JR, Osoegawa K, Mohammed N, Nanda V, Kundu R, Schultz K, Lammer EJ, Girirajan S, Scheetz T, Waggott D, Haddad F, Reddy S, Bernstein D, Burns T, Steimle JD, Yang XH, Moskowitz IP, Hurles M, Lifton RP, Nickerson D, Bamshad M, Eichler EE, Mital S, Sheffield V, Quertermous T, Gelb BD, Portman M, Ashley EA. Priest JR, et al. PLoS Genet. 2016 Apr 8;12(4):e1005963. doi: 10.1371/journal.pgen.1005963. eCollection 2016 Apr. PLoS Genet. 2016. PMID: 27058611 Free PMC article.
157 results