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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.
Genet Med. 2024 Feb;26(2):101012. doi: 10.1016/j.gim.2023.101012. Epub 2023 Nov 1.
Genet Med. 2024.
PMID: 37924259
Pathogenic variant in the X-linked ARR3 gene associated with variable early-onset myopia.
Ediae GU, Chisholm C, Lemire G, Campbell F, Boycott KM.
Ediae GU, et al.
Am J Med Genet A. 2024 Feb;194(2):397-399. doi: 10.1002/ajmg.a.63435. Epub 2023 Oct 5.
Am J Med Genet A. 2024.
PMID: 37795829
No abstract available.
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The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.
Ediae GU, Lemire G, Chisholm C, Hartley T, Eaton A, Osmond M, Rojas SK, Huang L, Gillespie M; Care4Rare Canada Consortium; Sawyer SL, Boycott KM.
Ediae GU, et al.
Am J Med Genet A. 2023 Feb;191(2):338-347. doi: 10.1002/ajmg.a.63022. Epub 2022 Nov 4.
Am J Med Genet A. 2023.
PMID: 36331261
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Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.
Lemire G, Zheng B, Ediae GU, Zou R, Bhola PT, Chisholm C, de Nanassy J, Lo B, Wang C, Shril S, El Desoky S, Shalaby M, Kari JA, Wang X; Care4Rare Canada Consortium; Kernohan KD, Boycott KM, Hildebrandt F, Sawyer SL.
Lemire G, et al. Among authors: ediae gu.
Am J Med Genet A. 2021 Oct;185(10):3005-3011. doi: 10.1002/ajmg.a.62398. Epub 2021 Jun 19.
Am J Med Genet A. 2021.
PMID: 34145744
Free PMC article.
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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM.
Zhang LX, et al. Among authors: ediae gu.
Genet Med. 2020 Aug;22(8):1338-1347. doi: 10.1038/s41436-020-0811-8. Epub 2020 May 19.
Genet Med. 2020.
PMID: 32424177
Free PMC article.
Review.
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Implementation of Epilepsy Multigene Panel Testing in Ontario, Canada.
Dyment DA, Prasad AN, Boycott KM, Ediae GU, Hartley T, Hassan A, Muir KE, Potter M, Boisse Lomax L, Jarinova O, Sadikovic B, Stavropoulos DJ, Snead OC.
Dyment DA, et al. Among authors: ediae gu.
Can J Neurol Sci. 2020 Jan;47(1):61-68. doi: 10.1017/cjn.2019.304. Epub 2019 Oct 30.
Can J Neurol Sci. 2020.
PMID: 31587668
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