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115 results

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Page 1
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Hartley T, Marshall D, Acker M, Fooks K, Gillespie MK, Price EM, Graham ID, White-Brown A, MacKay L, Macdonald SK, Brady L, Hui AY, Andrews JD, Chowdhury A, Wall E, Soubry É, Ediae GU, Rojas S, Assamad D, Dyment D, Tarnopolsky M, Sawyer SL, Chisholm C, Lemire G, Amburgey K, Lazier J, Mendoza-Londono R, Dowling JJ, Balci TB, Armour CM, Bhola PT, Costain G, Dupuis L, Carter M, Badalato L, Richer J, Boswell-Patterson C, Kannu P, Cordeiro D, Warman-Chardon J, Graham G, Siu VM, Cytrynbaum C, Rusnak A, Aul RB, Yoon G, Gonorazky H, McNiven V, Mercimek-Andrews S, Guerin A, Deshwar AR, Marwaha A, Weksberg R, Karp N, Campbell M, Al-Qattan S, Shuen AY, Inbar-Feigenberg M, Cohn R, Szuto A, Inglese C, Poirier M, Chad L, Potter B, Boycott KM, Hayeems R; Care4Rare Canada Consortium. Hartley T, et al. Among authors: price em. Genet Med. 2024 Feb;26(2):101012. doi: 10.1016/j.gim.2023.101012. Epub 2023 Nov 1. Genet Med. 2024. PMID: 37924259
The application of epiphenotyping approaches to DNA methylation array studies of the human placenta.
Khan A, Inkster AM, Peñaherrera MS, King S, Kildea S, Oberlander TF, Olson DM, Vaillancourt C, Brain U, Beraldo EO, Beristain AG, Clifton VL, Del Gobbo GF, Lam WL, Metz GAS, Ng JWY, Price EM, Schuetz JM, Yuan V, Portales-Casamar É, Robinson WP. Khan A, et al. Among authors: price em. Epigenetics Chromatin. 2023 Oct 4;16(1):37. doi: 10.1186/s13072-023-00507-5. Epigenetics Chromatin. 2023. PMID: 37794499 Free PMC article.
The application of epiphenotyping approaches to DNA methylation array studies of the human placenta.
Khan A, Inkster AM, Peñaherrera MS, King S, Kildea S, Oberlander TF, Olson DM, Vaillancourt C, Brain U, Beraldo EO, Beristain AG, Clifton VL, Del Gobbo GF, Lam WL, Metz GA, Ng JW, Price EM, Schuetz JM, Yuan V, Portales-Casamar É, Robinson WP. Khan A, et al. Among authors: price em. Res Sq [Preprint]. 2023 Jun 26:rs.3.rs-3069705. doi: 10.21203/rs.3.rs-3069705/v1. Res Sq. 2023. Update in: Epigenetics Chromatin. 2023 Oct 4;16(1):37. doi: 10.1186/s13072-023-00507-5 PMID: 37461679 Free PMC article. Updated. Preprint.
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Hartley T, Soubry É, Acker M, Osmond M, Couse M, Gillespie MK, Ito Y, Marshall AE, Lemire G, Huang L, Chisholm C, Eaton AJ, Price EM, Dowling JJ, Ramani AK, Mendoza-Londono R, Costain G, Axford MM, Szuto A, McNiven V, Damseh N, Jobling R, de Kock L, Mojarad BA, Young T, Shao Z, Hayeems RZ, Graham ID, Tarnopolsky M, Brady L, Armour CM, Geraghty M, Richer J, Sawyer S, Lines M, Mercimek-Andrews S, Carter MT, Graham G, Kannu P, Lazier J, Li C, Aul RB, Balci TB, Dlamini N, Badalato L, Guerin A, Walia J, Chitayat D, Cohn R, Faghfoury H, Forster-Gibson C, Gonorazky H, Grunebaum E, Inbar-Feigenberg M, Karp N, Morel C, Rusnak A, Sondheimer N, Warman-Chardon J, Bhola PT, Bourque DK, Chacon IJ, Chad L, Chakraborty P, Chong K, Doja A, Goh ES, Saleh M; Care4Rare Canada; Potter BK, Marshall CR, Dyment DA, Kernohan K, Boycott KM. Hartley T, et al. Among authors: price em. Clin Genet. 2023 Mar;103(3):288-300. doi: 10.1111/cge.14262. Epub 2022 Nov 29. Clin Genet. 2023. PMID: 36353900
Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario.
Hayeems RZ, Marshall CR, Gillespie MK, Szuto A, Chisholm C, Stavropoulos DJ, Venkataramanan V, Tsiplova K, Sawyer S, Price EM, Lau L, Khan R, Lee W, Huang L, Jarinova O, Ungar WJ, Mendoza-Londono R, Somerville MJ, Boycott KM. Hayeems RZ, et al. Among authors: price em. CMAJ Open. 2022 May 24;10(2):E460-E465. doi: 10.9778/cmajo.20210272. Print 2022 Apr-Jun. CMAJ Open. 2022. PMID: 35609929 Free PMC article.
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.
Driver HG, Hartley T, Price EM, Turinsky AL, Buske OJ, Osmond M, Ramani AK, Kirby E, Kernohan KD, Couse M, Elrick H, Lu K, Mashouri P, Mohan A, So D, Klamann C, Le HGBH, Herscovich A, Marshall CR, Statia A, Canada Consortium CR, Knoppers BM, Brudno M, Boycott KM. Driver HG, et al. Among authors: price em. Hum Mutat. 2022 Jun;43(6):800-811. doi: 10.1002/humu.24354. Epub 2022 Mar 9. Hum Mutat. 2022. PMID: 35181971 Free PMC article.
Genome-wide chromosomal association of Upf1 is linked to Pol II transcription in Schizosaccharomyces pombe.
De S, Edwards DM, Dwivedi V, Wang J, Varsally W, Dixon HL, Singh AK, Owuamalam PO, Wright MT, Summers RP, Hossain MN, Price EM, Wojewodzic MW, Falciani F, Hodges NJ, Saponaro M, Tanaka K, Azzalin CM, Baumann P, Hebenstreit D, Brogna S. De S, et al. Among authors: price em. Nucleic Acids Res. 2022 Jan 11;50(1):350-367. doi: 10.1093/nar/gkab1249. Nucleic Acids Res. 2022. PMID: 34928380 Free PMC article.
115 results