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Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario.
Hayeems RZ, Marshall CR, Gillespie MK, Szuto A, Chisholm C, Stavropoulos DJ, Venkataramanan V, Tsiplova K, Sawyer S, Price EM, Lau L, Khan R, Lee W, Huang L, Jarinova O, Ungar WJ, Mendoza-Londono R, Somerville MJ, Boycott KM. Hayeems RZ, et al. Among authors: stavropoulos dj. CMAJ Open. 2022 May 24;10(2):E460-E465. doi: 10.9778/cmajo.20210272. Print 2022 Apr-Jun. CMAJ Open. 2022. PMID: 35609929 Free PMC article.
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM; 2p15 Consortium; 16p11.2 Consortium; Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A. Loviglio MN, et al. Mol Psychiatry. 2017 Jun;22(6):836-849. doi: 10.1038/mp.2016.84. Epub 2016 May 31. Mol Psychiatry. 2017. PMID: 27240531 Free PMC article.
Severe intellectual disability and autistic features associated with microduplication 2q23.1.
Chung BH, Mullegama S, Marshall CR, Lionel AC, Weksberg R, Dupuis L, Brick L, Li C, Scherer SW, Aradhya S, Stavropoulos DJ, Elsea SH, Mendoza-Londono R. Chung BH, et al. Among authors: stavropoulos dj. Eur J Hum Genet. 2012 Apr;20(4):398-403. doi: 10.1038/ejhg.2011.199. Epub 2011 Nov 16. Eur J Hum Genet. 2012. PMID: 22085900 Free PMC article.
1q21.1 Microduplication expression in adults.
Dolcetti A, Silversides CK, Marshall CR, Lionel AC, Stavropoulos DJ, Scherer SW, Bassett AS. Dolcetti A, et al. Among authors: stavropoulos dj. Genet Med. 2013 Apr;15(4):282-9. doi: 10.1038/gim.2012.129. Epub 2012 Sep 27. Genet Med. 2013. PMID: 23018752 Free PMC article. Review.
PhenoTips: patient phenotyping software for clinical and research use.
Girdea M, Dumitriu S, Fiume M, Bowdin S, Boycott KM, Chénier S, Chitayat D, Faghfoury H, Meyn MS, Ray PN, So J, Stavropoulos DJ, Brudno M. Girdea M, et al. Among authors: stavropoulos dj. Hum Mutat. 2013 Aug;34(8):1057-65. doi: 10.1002/humu.22347. Epub 2013 May 24. Hum Mutat. 2013. PMID: 23636887
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.
Costain G, Lionel AC, Merico D, Forsythe P, Russell K, Lowther C, Yuen T, Husted J, Stavropoulos DJ, Speevak M, Chow EW, Marshall CR, Scherer SW, Bassett AS. Costain G, et al. Among authors: stavropoulos dj. Hum Mol Genet. 2013 Nov 15;22(22):4485-501. doi: 10.1093/hmg/ddt297. Epub 2013 Jun 27. Hum Mol Genet. 2013. PMID: 23813976 Free PMC article.
Adult expression of a 3q13.31 microdeletion.
Lowther C, Costain G, Melvin R, Stavropoulos DJ, Lionel AC, Marshall CR, Scherer SW, Bassett AS. Lowther C, et al. Among authors: stavropoulos dj. Mol Cytogenet. 2014 Mar 20;7(1):23. doi: 10.1186/1755-8166-7-23. Mol Cytogenet. 2014. PMID: 24650298 Free PMC article.
Adult neuropsychiatric expression and familial segregation of 2q13 duplications.
Costain G, Lionel AC, Fu F, Stavropoulos DJ, Gazzellone MJ, Marshall CR, Scherer SW, Bassett AS. Costain G, et al. Among authors: stavropoulos dj. Am J Med Genet B Neuropsychiatr Genet. 2014 Jun;165B(4):337-44. doi: 10.1002/ajmg.b.32236. Epub 2014 May 8. Am J Med Genet B Neuropsychiatr Genet. 2014. PMID: 24807792 Free PMC article.
106 results