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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Köhler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine JP, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D, Cipriani V, Balhoff JP, Conlin T, Blau H, Baynam G, Palmer R, Gratian D, Dawkins H, Segal M, Jansen AC, Muaz A, Chang WH, Bergerson J, Laulederkind SJF, Yüksel Z, Beltran S, Freeman AF, Sergouniotis PI, Durkin D, Storm AL, Hanauer M, Brudno M, Bello SM, Sincan M, Rageth K, Wheeler MT, Oegema R, Lourghi H, Della Rocca MG, Thompson R, Castellanos F, Priest J, Cunningham-Rundles C, Hegde A, Lovering RC, Hajek C, Olry A, Notarangelo L, Similuk M, Zhang XA, Gómez-Andrés D, Lochmüller H, Dollfus H, Rosenzweig S, Marwaha S, Rath A, Sullivan K, Smith C, Milner JD, Leroux D, Boerkoel CF, Klion A, Carter MC, Groza T, Smedley D, Haendel MA, Mungall C, Robinson PN. Köhler S, et al. Among authors: priest j. Nucleic Acids Res. 2019 Jan 8;47(D1):D1018-D1027. doi: 10.1093/nar/gky1105. Nucleic Acids Res. 2019. PMID: 30476213 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. Genome Med. 2016 Mar 2;8(1):24. doi: 10.1186/s13073-016-0269-0. Genome Med. 2016. PMID: 26932475 Free PMC article.
A primer to clinical genome sequencing.
Priest JR. Priest JR. Curr Opin Pediatr. 2017 Oct;29(5):513-519. doi: 10.1097/MOP.0000000000000532. Curr Opin Pediatr. 2017. PMID: 28786837 Free PMC article. Review.
Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts.
Helle E, Córdova-Palomera A, Ojala T, Saha P, Potiny P, Gustafsson S, Ingelsson E, Bamshad M, Nickerson D, Chong JX; University of Washington Center for Mendelian Genomics; Ashley E, Priest JR. Helle E, et al. Genet Epidemiol. 2019 Mar;43(2):215-226. doi: 10.1002/gepi.22176. Epub 2018 Dec 4. Genet Epidemiol. 2019. PMID: 30511478 Free PMC article.
Cardiac Imaging of Aortic Valve Area From 34 287 UK Biobank Participants Reveals Novel Genetic Associations and Shared Genetic Comorbidity With Multiple Disease Phenotypes.
Córdova-Palomera A, Tcheandjieu C, Fries JA, Varma P, Chen VS, Fiterau M, Xiao K, Tejeda H, Keavney BD, Cordell HJ, Tanigawa Y, Venkataraman G, Rivas MA, Ré C, Ashley E, Priest JR. Córdova-Palomera A, et al. Among authors: priest jr. Circ Genom Precis Med. 2020 Dec;13(6):e003014. doi: 10.1161/CIRCGEN.120.003014. Epub 2020 Oct 30. Circ Genom Precis Med. 2020. PMID: 33125279 Free article.
488 results