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The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability.
Hayeems RZ, Luca S, Ungar WJ, Venkataramanan V, Tsiplova K, Bashir NS, Costain G, Inglese C, McNiven V, Quercia N, Shugar A, Yoon G, Cytrynbaum C, Dupuis L, Shao Z, Hewson S, Shuman C, Aul R, Liston E, Babul-Hirji R, Bushby A, Pullenayegum E, Chad L, Meyn MS. Hayeems RZ, et al. Among authors: chad l. Genet Med. 2022 Feb;24(2):430-438. doi: 10.1016/j.gim.2021.10.005. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906486 Free article.
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR. Stavropoulos DJ, et al. Among authors: chad l. NPJ Genom Med. 2016 Jan 13;1:15012-. doi: 10.1038/npjgenmed.2015.12. NPJ Genom Med. 2016. PMID: 28567303 Free PMC article.
Response to Rubanovich et al.
Hayeems RZ, Luca S, Ungar WJ, Bhatt A, Chad L, Pullenayegum E, Meyn MS. Hayeems RZ, et al. Among authors: chad l. Genet Med. 2020 Mar;22(3):667-668. doi: 10.1038/s41436-019-0700-1. Epub 2019 Nov 19. Genet Med. 2020. PMID: 31740736 Free PMC article. No abstract available.
Understanding genetic variants of uncertain significance.
Joynt ACM, Axford MM, Chad L, Costain G. Joynt ACM, et al. Among authors: chad l. Paediatr Child Health. 2021 Sep 13;27(1):10-11. doi: 10.1093/pch/pxab070. eCollection 2022 Mar. Paediatr Child Health. 2021. PMID: 35273666 Free PMC article. No abstract available.
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes.
Awamleh Z, Chater-Diehl E, Choufani S, Wei E, Kianmahd RR, Yu A, Chad L, Costain G, Tan WH, Scherer SW, Arboleda VA, Russell BE, Weksberg R. Awamleh Z, et al. Among authors: chad l. Eur J Hum Genet. 2022 Jun;30(6):695-702. doi: 10.1038/s41431-022-01083-0. Epub 2022 Apr 1. Eur J Hum Genet. 2022. PMID: 35361921 Free PMC article.
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