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Page 1
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
Marshall CR, Scherer SW, Zariwala MA, Lau L, Paton TA, Stockley T, Jobling RK, Ray PN, Knowles MR; FORGE Canada Consortium; Hall DA, Dell SD, Kim RH. Marshall CR, et al. Among authors: kim rh. G3 (Bethesda). 2015 Jul 2;5(8):1775-81. doi: 10.1534/g3.115.019851. G3 (Bethesda). 2015. PMID: 26139845 Free PMC article.
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.
Reuter MS, Jobling R, Chaturvedi RR, Manshaei R, Costain G, Heung T, Curtis M, Hosseini SM, Liston E, Lowther C, Oechslin E, Sticht H, Thiruvahindrapuram B, Mil SV, Wald RM, Walker S, Marshall CR, Silversides CK, Scherer SW, Kim RH, Bassett AS. Reuter MS, et al. Among authors: kim rh. Genet Med. 2019 Apr;21(4):1001-1007. doi: 10.1038/s41436-018-0260-9. Epub 2018 Sep 20. Genet Med. 2019. PMID: 30232381 Free PMC article.
Development of patient "profiles" to tailor counseling for incidental genomic sequencing results.
Mighton C, Carlsson L, Clausen M, Casalino S, Shickh S, McCuaig L, Joshi E, Panchal S, Graham T, Aronson M, Piccinin C, Winter-Paquette L, Semotiuk K, Lorentz J, Mancuso T, Ott K, Silberman Y, Elser C, Eisen A, Kim RH, Lerner-Ellis J, Carroll JC, Glogowski E, Schrader K, Bombard Y; Incidental Genomics Study Team. Mighton C, et al. Among authors: kim rh. Eur J Hum Genet. 2019 Jul;27(7):1008-1017. doi: 10.1038/s41431-019-0352-2. Epub 2019 Mar 8. Eur J Hum Genet. 2019. PMID: 30846854 Free PMC article.
Return of genetic and genomic research findings: experience of a pediatric biorepository.
Papaz T, Liston E, Zahavich L, Stavropoulos DJ, Jobling RK, Kim RH, Reuter M, Miron A, Oechslin E, Mondal T, Bergin L, Smythe JF, Altamirano-Diaz L, Lougheed J, Yao R, Akinrinade O, Breckpot J, Mital S. Papaz T, et al. Among authors: kim rh. BMC Med Genomics. 2019 Nov 27;12(1):173. doi: 10.1186/s12920-019-0618-0. BMC Med Genomics. 2019. PMID: 31775751 Free PMC article.
Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial.
Bombard Y, Clausen M, Shickh S, Mighton C, Casalino S, Kim THM, Muir SM, Carlsson L, Baxter N, Scheer A, Elser C, Eisen A, Panchal S, Graham T, Aronson M, Piccinin C, Mancuso T, Semotiuk K, Evans M, Carroll JC, Offit K, Robson M, Hamilton JG, Glogowski E, Schrader K, Kim RH, Lerner-Ellis J, Thorpe KE, Laupacis A; Incidental Genomics Study Team. Bombard Y, et al. Among authors: kim rh, kim thm. Genet Med. 2020 Apr;22(4):727-735. doi: 10.1038/s41436-019-0702-z. Epub 2019 Dec 11. Genet Med. 2020. PMID: 31822848 Free PMC article. Clinical Trial.
Quality of life drives patients' preferences for secondary findings from genomic sequencing.
Mighton C, Carlsson L, Clausen M, Casalino S, Shickh S, McCuaig L, Joshi E, Panchal S, Semotiuk K, Ott K, Elser C, Eisen A, Kim RH, Lerner-Ellis J, Carroll JC, Glogowski E, Schrader K, Bombard Y; Incidental Genomics Study Team. Mighton C, et al. Among authors: kim rh. Eur J Hum Genet. 2020 Sep;28(9):1178-1186. doi: 10.1038/s41431-020-0640-x. Epub 2020 May 18. Eur J Hum Genet. 2020. PMID: 32424322 Free PMC article.
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.
Manshaei R, Merico D, Reuter MS, Engchuan W, Mojarad BA, Chaturvedi R, Heung T, Pellecchia G, Zarrei M, Nalpathamkalam T, Khan R, Okello JBA, Liston E, Curtis M, Yuen RKC, Marshall CR, Jobling RK, Oechslin E, Wald RM, Silversides CK, Scherer SW, Kim RH, Bassett AS. Manshaei R, et al. Among authors: kim rh. Front Genet. 2020 Sep 15;11:957. doi: 10.3389/fgene.2020.00957. eCollection 2020. Front Genet. 2020. PMID: 33110418 Free PMC article.
The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care.
Shickh S, Rafferty SA, Clausen M, Kodida R, Mighton C, Panchal S, Lorentz J, Ward T, Watkins N, Elser C, Eisen A, Carroll JC, Glogowski E, Schrader KA, Lerner-Ellis J, Kim RH, Chitayat D, Shuman C, Bombard Y; Incidental Genomics Study Team. Shickh S, et al. Among authors: kim rh. Genet Med. 2021 Jun;23(6):1086-1094. doi: 10.1038/s41436-021-01112-1. Epub 2021 Mar 2. Genet Med. 2021. PMID: 33654192 Free PMC article. Clinical Trial.
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. 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.
503 results