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Items: 1 to 20 of 89

1.

The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.

Reuter MS, Chaturvedi RR, Liston E, Manshaei R, Aul RB, Bowdin S, Cohn I, Curtis M, Dhir P, Hayeems RZ, Hosseini SM, Khan R, Ly LG, Marshall CR, Mertens L, Okello JBA, Pereira SL, Raajkumar A, Seed M, Thiruvahindrapuram B, Scherer SW, Kim RH, Jobling RK.

Genet Med. 2020 Feb 10. doi: 10.1038/s41436-020-0757-x. [Epub ahead of print]

PMID:
32037394
2.

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.

Genet Med. 2019 Dec 11. doi: 10.1038/s41436-019-0702-z. [Epub ahead of print]

PMID:
31822848
3.

Standard operating procedure for curation and clinical interpretation of variants in cancer.

Danos AM, Krysiak K, Barnell EK, Coffman AC, McMichael JF, Kiwala S, Spies NC, Sheta LM, Pema SP, Kujan L, Clark KA, Wollam AZ, Rao S, Ritter DI, Sonkin D, Raca G, Lin WH, Grisdale CJ, Kim RH, Wagner AH, Madhavan S, Griffith M, Griffith OL.

Genome Med. 2019 Nov 29;11(1):76. doi: 10.1186/s13073-019-0687-x.

4.

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.

BMC Med Genomics. 2019 Nov 27;12(1):173. doi: 10.1186/s12920-019-0618-0.

5.

Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trial.

Shickh S, Clausen M, Mighton C, Gutierrez Salazar M, Zakoor KR, Kodida R, Reble E, Elser C, Eisen A, Panchal S, Aronson M, Graham T, Armel SR, Morel CF, Fattouh R, Glogowski E, Schrader KA, Hamilton JG, Offit K, Robson M, Carroll JC, Isaranuwatchai W, Kim RH, Lerner-Ellis J, Thorpe KE, Laupacis A, Bombard Y; Incidental Genomics Study Team.

BMJ Open. 2019 Oct 7;9(10):e031092. doi: 10.1136/bmjopen-2019-031092.

6.

Co-occurrence of breast cancer and neuroendocrine tumours: New genetic insights beyond Multiple Endocrine Neoplasia syndromes.

Larouche V, Akirov A, Thain E, Kim RH, Ezzat S.

Endocrinol Diabetes Metab. 2019 Sep 8;2(4):e00092. doi: 10.1002/edm2.92. eCollection 2019 Oct.

7.

An update on genetic risk assessment and prevention: the role of genetic testing panels in breast cancer.

Piccinin C, Panchal S, Watkins N, Kim RH.

Expert Rev Anticancer Ther. 2019 Sep;19(9):787-801. doi: 10.1080/14737140.2019.1659730. Epub 2019 Sep 7.

PMID:
31469018
8.

Evidence of small-fiber neuropathy in neurofibromatosis type 1.

Barnett C, Alon T, Abraham A, Kim RH, McCuaig JM, Kongkham P, Maurice C, Suppiah S, Zadeh G, Bril V.

Muscle Nerve. 2019 Dec;60(6):673-678. doi: 10.1002/mus.26687. Epub 2019 Sep 12.

PMID:
31465118
9.

Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients.

Salama Y, Albanyan S, Szybowska M, Bullivant G, Gallinger B, Giles RH, Asa S, Badduke C, Chiorean A, Druker H, Ezzat S, Hannah-Shmouni F, Hernandez KG, Inglese C, Jani P, Kaur Y, Krema H, Krimus L, Laperriere N, Lichner Z, Mete O, Sit M, Zadeh G, Jewett MAS, Malkin D, Stockley T, Wasserman JD, Xu W, Schachter NF, Kim RH.

Clin Genet. 2019 Nov;96(5):461-467. doi: 10.1111/cge.13613. Epub 2019 Aug 6.

PMID:
31368132
10.

NF1 Patients Receiving Breast Cancer Screening: Insights from The Ontario High Risk Breast Screening Program.

Maani N, Westergard S, Yang J, Scaranelo AM, Telesca S, Thain E, Schachter NF, McCuaig JM, Kim RH.

Cancers (Basel). 2019 May 22;11(5). pii: E707. doi: 10.3390/cancers11050707.

11.

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.

Eur J Hum Genet. 2019 Jul;27(7):1008-1017. doi: 10.1038/s41431-019-0352-2. Epub 2019 Mar 8.

PMID:
30846854
12.

Neuroendocrine Neoplasms Associated with Germline Pathogenic Variants in the Homologous Recombination Pathway.

Szybowska M, Mete O, Weber E, Silver J, Kim RH.

Endocr Pathol. 2019 Sep;30(3):237-245. doi: 10.1007/s12022-019-9569-4.

PMID:
30772928
13.

Modified panel-based genetic counseling for ovarian cancer susceptibility: A randomized non-inferiority study.

McCuaig JM, Tone AA, Maganti M, Romagnuolo T, Ricker N, Shuldiner J, Rodin G, Stockley T, Kim RH, Bernardini MQ.

Gynecol Oncol. 2019 Apr;153(1):108-115. doi: 10.1016/j.ygyno.2018.12.027. Epub 2019 Jan 10.

PMID:
30638766
14.

No 366 - Prise en charge gynécologique du cancer du sein et de l'ovaire héréditaire.

Jacobson M, Bernardini M, Sobel ML, Kim RH, McCuaig J, Allen L.

J Obstet Gynaecol Can. 2018 Nov;40(11):1511-1527. doi: 10.1016/j.jogc.2018.09.001.

PMID:
30473126
15.

No. 366-Gynaecologic Management of Hereditary Breast and Ovarian Cancer.

Jacobson M, Bernardini M, Sobel ML, Kim RH, McCuaig J, Allen L.

J Obstet Gynaecol Can. 2018 Nov;40(11):1497-1510. doi: 10.1016/j.jogc.2018.05.046.

PMID:
30473125
16.

Intrathyroidal Parathyroid Carcinoma: An Atypical Thyroid Lesion.

Alharbi N, Asa SL, Szybowska M, Kim RH, Ezzat S.

Front Endocrinol (Lausanne). 2018 Nov 1;9:641. doi: 10.3389/fendo.2018.00641. eCollection 2018.

17.

Next-Generation Service Delivery: A Scoping Review of Patient Outcomes Associated with Alternative Models of Genetic Counseling and Genetic Testing for Hereditary Cancer.

McCuaig JM, Armel SR, Care M, Volenik A, Kim RH, Metcalfe KA.

Cancers (Basel). 2018 Nov 13;10(11). pii: E435. doi: 10.3390/cancers10110435. Review.

18.

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.

Genet Med. 2019 Apr;21(4):1001-1007. doi: 10.1038/s41436-018-0260-9. Epub 2018 Sep 20.

19.

Additional germline findings from a tumor profiling program.

Stjepanovic N, Stockley TL, Bedard PL, McCuaig JM, Aronson M, Holter S, Semotiuk K, Leighl NB, Jang R, Krzyzanowska MK, Oza AM, Gupta A, Elser C, Ahmed L, Wang L, Kamel-Reid S, Siu LL, Kim RH.

BMC Med Genomics. 2018 Aug 9;11(1):65. doi: 10.1186/s12920-018-0383-5.

20.

Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap.

McCuaig JM, Stockley TL, Shaw P, Fung-Kee-Fung M, Altman AD, Bentley J, Bernardini MQ, Cormier B, Hirte H, Kieser K, MacMillan A, Meschino WS, Panabaker K, Perrier R, Provencher D, Schrader KA, Serfas K, Tomiak E, Wong N, Young SS, Gotlieb WH, Hoskins P, Kim RH; BRCA TtoT Community of Practice.

J Med Genet. 2018 Sep;55(9):571-577. doi: 10.1136/jmedgenet-2018-105472. Epub 2018 Jul 24. Review.

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