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Page 1
Validation of low-pass genome sequencing for prenatal diagnosis.
Prenat Diagn. 2024 Apr;44(4):443-453. doi: 10.1002/pd.6525. Epub 2024 Jan 27.
Prenat Diagn. 2024.
PMID: 38279846
Recontact to return new or updated PALB2 genetic results in the clinical laboratory setting.
Panchal S, Mahajan R, Aujla N, McKay P, Casalino S, Di Gioacchino V, Charames GS, Lefebvre M, Metcalfe KA, Akbari MR, McCuaig JM, Lerner-Ellis J.
Panchal S, et al. Among authors: di gioacchino v.
J Med Genet. 2024 Apr 19;61(5):477-482. doi: 10.1136/jmg-2023-109652.
J Med Genet. 2024.
PMID: 38124008
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A model for the return and referral of all clinically significant secondary findings of genomic sequencing.
Kodida R, Reble E, Clausen M, Shickh S, Mighton C, Sam J, Forster N, Panchal S, Aronson M, Semotiuk K, Graham T, Silberman Y, Randall Armel S, McCuaig JM, Cohn I, Morel CF, Elser C, Eisen A, Carroll JC, Glogowski E, Schrader KA, Di Gioacchino V, Lerner-Ellis J, Kim RH, Bombard Y; Incidental Genomics Study Team.
Kodida R, et al. Among authors: di gioacchino v.
J Med Genet. 2023 Aug;60(8):733-739. doi: 10.1136/jmg-2022-109091. Epub 2023 May 22.
J Med Genet. 2023.
PMID: 37217257
Review.
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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: di gioacchino v.
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.
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Correction to: Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario.
Lerner-Ellis J, Mighton C, Lazaro C, Watkins N, Di Gioacchino V, Wong A, Chang MC, Charames GS.
Lerner-Ellis J, et al. Among authors: di gioacchino v.
J Cancer Res Clin Oncol. 2021 Aug;147(8):2487. doi: 10.1007/s00432-020-03399-0.
J Cancer Res Clin Oncol. 2021.
PMID: 32975687
No abstract available.
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Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario.
Lerner-Ellis J, Mighton C, Lazaro C, Watkins N, Di Gioacchino V, Wong A, Chang MC, Charames GS.
Lerner-Ellis J, et al. Among authors: di gioacchino v.
J Cancer Res Clin Oncol. 2021 Mar;147(3):871-879. doi: 10.1007/s00432-020-03377-6. Epub 2020 Sep 3.
J Cancer Res Clin Oncol. 2021.
PMID: 32885271
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Canadian genetic healthcare professionals' attitudes towards discussing private pay options with patients.
Di Gioacchino V, Langlois S, Elliott AM.
Di Gioacchino V, et al.
Mol Genet Genomic Med. 2019 Apr;7(4):e00572. doi: 10.1002/mgg3.572. Epub 2019 Feb 2.
Mol Genet Genomic Med. 2019.
PMID: 30712332
Free PMC article.
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