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.


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


My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1994 3
1995 2
1996 2
2001 1
2002 1
2003 3
2006 1
2008 1
2009 1
2010 1
2011 2
2012 1
2013 3
2014 1
2015 2
2017 1
2018 2
2019 1
2020 1
2021 1
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

27 results

Results by year

Filters applied: . Clear all
Page 1
An unusual case of alpha-1-antitrypsin deficiency: SZ/Z.
Speevak MD, DeMarco ML, Wiebe NS, Chapman KR. Speevak MD, et al. Clin Biochem. 2019 Feb;64:49-52. doi: 10.1016/j.clinbiochem.2018.12.008. Epub 2018 Dec 21. Clin Biochem. 2019. PMID: 30579752
Isodicentric Yp: prenatal diagnosis and outcome in 12 cases.
Bruyère H, Speevak MD, Winsor EJ, de Fréminville B, Farrell SA, McGowan-Jordan J, McGillivray B, Chitayat D, McFadden D, Adouard V, Terespolsky D, Prieur F, Pantzar T, Hrynchak M. Bruyère H, et al. Among authors: speevak md. Prenat Diagn. 2006 Apr;26(4):324-9. doi: 10.1002/pd.1406. Prenat Diagn. 2006. PMID: 16521154 Review.
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: speevak md. 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.
Alpha-1-antitrypsin molecular testing in Canada: A seven year, multi-centre comparison.
Mattman A, Gilfix BM, Chen SX, DeMarco ML, Kyle BD, Parker ML, Agbor TA, Jung B, Selvarajah S, Barakauskas VE, Vaags AK, Estey MP, Nelson TN, Speevak MD. Mattman A, et al. Among authors: speevak md. Clin Biochem. 2020 Jul;81:27-33. doi: 10.1016/j.clinbiochem.2020.05.001. Epub 2020 May 6. Clin Biochem. 2020. PMID: 32387440
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
Lebo MS, Zakoor KR, Chun K, Speevak MD, Waye JS, McCready E, Parboosingh JS, Lamont RE, Feilotter H, Bosdet I, Tucker T, Young S, Karsan A, Charames GS, Agatep R, Spriggs EL, Chisholm C, Vasli N, Daoud H, Jarinova O, Tomaszewski R, Hume S, Taylor S, Akbari MR, Lerner-Ellis J; Canadian Open Genetics Repository Working Group. Lebo MS, et al. Among authors: speevak md. Genet Med. 2018 Mar;20(3):294-302. doi: 10.1038/gim.2017.80. Epub 2017 Jul 20. Genet Med. 2018. PMID: 28726806 Free article.
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ; DDD Study; Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT. Chaudhry A, et al. Among authors: speevak md. Clin Genet. 2015 Sep;88(3):224-33. doi: 10.1111/cge.12482. Epub 2014 Oct 14. Clin Genet. 2015. PMID: 25131214
27 results