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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. Among authors: priest jr. 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.
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.
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. Nucleic Acids Res. 2019 Jan 8;47(D1):D1018-D1027. doi: 10.1093/nar/gky1105. Nucleic Acids Res. 2019. PMID: 30476213 Free PMC article.
157 results