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Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.
Cuillerier A, Goodman A, Lawrence C, Villeneuve-Cloutier N, Armour CM, Bhola PT, Bourque DK, Carter MT, Lazier J, Sawyer SL, Saleh M, Prasad C, Siu VM; Care4Rare Canada Consortium; Boycott KM, Hartley T, Dyment DA, Balci TB. Cuillerier A, et al. Among authors: siu vm. Clin Genet. 2025 Jun 22. doi: 10.1111/cge.70008. Online ahead of print. Clin Genet. 2025. PMID: 40545823
Mainstreaming of clinical genetic testing: A conceptual framework.
Mackley MP, Richer J, Guerin A, Caluseriu O, Armstrong L, Blood KA, Bernier F, Boswell-Patterson C, Chard M, Costain G, Dyment D, Eaton A, Faghfoury H, Frosk P, Gillespie MK, Goh ES, Hayeems RZ, Hashemi B, Innes AM, Jackson M, Laberge AM, Limoges J, Marshall C, McMillan H, Nelson TN, Osmond M, Parboosingh J, Penney L, Prince B, Sawyer SL, Siu VM, Thomas MA, Turner L, Villeneuve-Cloutier N, Hartley T, Boycott KM. Mackley MP, et al. Among authors: siu vm. Genet Med. 2025 May 22;27(8):101465. doi: 10.1016/j.gim.2025.101465. Online ahead of print. Genet Med. 2025. PMID: 40417744 Free article.
Circles.
Siu VM, Siu JM. Siu VM, et al. Am J Med Genet C Semin Med Genet. 2024 Nov;196(2-3):e32105. doi: 10.1002/ajmg.c.32105. Epub 2024 Aug 31. Am J Med Genet C Semin Med Genet. 2024. PMID: 39215585 No abstract available.
Genesis and genetics of a miracle.
Siu VM. Siu VM. Am J Med Genet C Semin Med Genet. 2024 Nov;196(2-3):e32102. doi: 10.1002/ajmg.c.32102. Epub 2024 Aug 20. Am J Med Genet C Semin Med Genet. 2024. PMID: 39162357 No abstract available.
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, Gaspar H, Kopps AM, Rieubland C, Hurst ACE, Amor DJ, Nizon M, Pasquier L, Pfundt R, Reis A, Siu VM, Tessarech M, Thompson ML, Vincent M, de Vries BBA, Walsh MB, Wechsler SB, Zweier C, Schnur RE, Guillen Sacoto MJ, Margot H, Masotto B, Palafoll MIV, Nawaz U, Voineagu I, Slavotinek A. Ha T, et al. Among authors: siu vm. Am J Med Genet A. 2024 Jul;194(7):e63559. doi: 10.1002/ajmg.a.63559. Epub 2024 Feb 29. Am J Med Genet A. 2024. PMID: 38421105 Free article.
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: siu vm. Genet Med. 2024 Feb;26(2):101012. doi: 10.1016/j.gim.2023.101012. Epub 2023 Nov 1. Genet Med. 2024. PMID: 37924259 Free article.
84 results