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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2003 1
2010 1
2011 2
2012 4
2013 2
2014 2
2015 2
2017 3
2018 2
2019 4
2020 1
2021 5
2022 2
2023 1
2024 1

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26 results

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Page 1
Choroideremia.
MacDonald IM, Hume S, Zhai Y, Xu M. MacDonald IM, et al. Among authors: hume s. 2003 Feb 21 [updated 2021 Mar 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Feb 21 [updated 2021 Mar 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301511 Free Books & Documents. Review.
Newborn Screening: Current Status in Alberta, Canada.
De Souza A, Wolan V, Battochio A, Christian S, Hume S, Johner G, Lilley M, Ridsdale R, Schnabl K, Tran C, Yuen-Jung J, Sosova I. De Souza A, et al. Among authors: hume s. Int J Neonatal Screen. 2019 Oct 1;5(4):37. doi: 10.3390/ijns5040037. eCollection 2019 Dec. Int J Neonatal Screen. 2019. PMID: 33072996 Free PMC article. Review.
Correction: Methodology for clinical genotyping of CYP2D6 and CYP2C19.
Henriques BC, Buchner A, Hu X, Wang Y, Yavorskyy V, Wallace K, Dong R, Martens K, Carr MS, Asl BB, Hague J, Sivapalan S, Maier W, Dernovsek MZ, Henigsberg N, Hauser J, Souery D, Cattaneo A, Mors O, Rietschel M, Pfeffer G, Hume S, Aitchison KJ. Henriques BC, et al. Among authors: hume s. Transl Psychiatry. 2022 Mar 8;12(1):94. doi: 10.1038/s41398-022-01845-w. Transl Psychiatry. 2022. PMID: 35260547 Free PMC article. No abstract available.
Methodology for clinical genotyping of CYP2D6 and CYP2C19.
Carvalho Henriques B, Buchner A, Hu X, Wang Y, Yavorskyy V, Wallace K, Dong R, Martens K, Carr MS, Behroozi Asl B, Hague J, Sivapalan S, Maier W, Dernovsek MZ, Henigsberg N, Hauser J, Souery D, Cattaneo A, Mors O, Rietschel M, Pfeffer G, Hume S, Aitchison KJ. Carvalho Henriques B, et al. Among authors: hume s. Transl Psychiatry. 2021 Nov 22;11(1):596. doi: 10.1038/s41398-021-01717-9. Transl Psychiatry. 2021. PMID: 34811360 Free PMC article.
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.
McDevitt T, Durkie M, Arnold N, Burghel GJ, Butler S, Claes KBM, Logan P, Robinson R, Sheils K, Wolstenholme N, Hanson H, Turnbull C, Hume S. McDevitt T, et al. Among authors: hume s. Eur J Hum Genet. 2024 May;32(5):479-488. doi: 10.1038/s41431-023-01507-5. Epub 2024 Mar 5. Eur J Hum Genet. 2024. PMID: 38443545 Free PMC article. Review.
Mitochondrial Replacement Therapy: The Road to the Clinic in Canada.
Knoppers BM, Leader A, Hume S, Shoubridge EA, Isasi R, Noohi F, Ogbogu U, Ravitsky V, Kleiderman E. Knoppers BM, et al. Among authors: hume s. J Obstet Gynaecol Can. 2017 Oct;39(10):916-918. doi: 10.1016/j.jogc.2017.05.007. Epub 2017 Jul 18. J Obstet Gynaecol Can. 2017. PMID: 28733061 No abstract available.
CCMG practice guideline: laboratory guidelines for next-generation sequencing.
Hume S, Nelson TN, Speevak M, McCready E, Agatep R, Feilotter H, Parboosingh J, Stavropoulos DJ, Taylor S, Stockley TL; Canadian College of Medical Geneticists (CCMG). Hume S, et al. J Med Genet. 2019 Dec;56(12):792-800. doi: 10.1136/jmedgenet-2019-106152. Epub 2019 Jul 12. J Med Genet. 2019. PMID: 31300550 Free PMC article.
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
Mighton C, Smith AC, Mayers J, Tomaszewski R, Taylor S, Hume S, Agatep R, Spriggs E, Feilotter HE, Semenuk L, Wong H, Lazo de la Vega L, Marshall CR, Axford MM, Silver T, Charames GS, Di Gioacchino V, Watkins N, Foulkes WD, Clavier M, Hamel N, Chong G, Lamont RE, Parboosingh J, Karsan A, Bosdet I, Young SS, Tucker T, Akbari MR, Speevak MD, Vaags AK, Lebo MS, Lerner-Ellis J; Canadian Open Genetics Repository Working Group. Mighton C, et al. Among authors: hume s. J Med Genet. 2022 Jun;59(6):571-578. doi: 10.1136/jmedgenet-2021-107738. Epub 2021 Apr 19. J Med Genet. 2022. PMID: 33875564 Free PMC article.
Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project.
Niri F, Nicholls J, Baptista Wyatt K, Walker C, Price T, Kelln R, Hume S, Parboosingh J, Lilley M, Kolski H, Ridsdale R, Muranyi A, Mah JK, Bulman DE. Niri F, et al. Among authors: hume s. Int J Neonatal Screen. 2023 Jul 27;9(3):42. doi: 10.3390/ijns9030042. Int J Neonatal Screen. 2023. PMID: 37606479 Free PMC article.
26 results