Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

38 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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: chad l. Genet Med. 2024 Feb;26(2):101012. doi: 10.1016/j.gim.2023.101012. Epub 2023 Nov 1. Genet Med. 2024. PMID: 37924259
A 5-year-old girl with abdominal pain, headache, and cracked lips.
Tran MA, Chad L, Parekh RS, Bismilla Z. Tran MA, et al. Among authors: chad l. Paediatr Child Health. 2021 Aug 23;27(2):70-71. doi: 10.1093/pch/pxab054. eCollection 2022 May. Paediatr Child Health. 2021. PMID: 35599679 Free PMC article. No abstract available.
Association of LY9 in UK and Canadian SLE families.
Cunninghame Graham DS, Vyse TJ, Fortin PR, Montpetit A, Cai YC, Lim S, McKenzie T, Farwell L, Rhodes B, Chad L, Hudson TJ, Sharpe A, Terhorst C, Greenwood CM, Wither J, Rioux JD; CaNIOS GenES Investigators. Cunninghame Graham DS, et al. Among authors: chad l. Genes Immun. 2008 Mar;9(2):93-102. doi: 10.1038/sj.gene.6364453. Epub 2008 Jan 24. Genes Immun. 2008. PMID: 18216865
Germline EPHB2 receptor variants in familial colorectal cancer.
Zogopoulos G, Jorgensen C, Bacani J, Montpetit A, Lepage P, Ferretti V, Chad L, Selvarajah S, Zanke B, Hudson TJ, Pawson T, Gallinger S. Zogopoulos G, et al. Among authors: chad l. PLoS One. 2008 Aug 6;3(8):e2885. doi: 10.1371/journal.pone.0002885. PLoS One. 2008. PMID: 18682749 Free PMC 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.
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.
38 results