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Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ. Wojcik MH, et al. Among authors: colaiacovo s. Am J Med Genet A. 2023 Jul;191(7):1900-1910. doi: 10.1002/ajmg.a.63226. Epub 2023 May 14. Am J Med Genet A. 2023. PMID: 37183572
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.
Aref-Eshghi E, Kerkhof J, Carere DA, Volodarsky M, Bhai P, Colaiacovo S, Saleh M, Caudle M, Karp N, Prasad C, Balci T, Lin H, Campbell C, Siu VM, Sadikovic B. Aref-Eshghi E, et al. Among authors: colaiacovo s. J Hum Genet. 2021 May;66(5):451-464. doi: 10.1038/s10038-020-00860-3. Epub 2020 Oct 23. J Hum Genet. 2021. PMID: 33093641
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
Aref-Eshghi E, Bend EG, Colaiacovo S, Caudle M, Chakrabarti R, Napier M, Brick L, Brady L, Carere DA, Levy MA, Kerkhof J, Stuart A, Saleh M, Beaudet AL, Li C, Kozenko M, Karp N, Prasad C, Siu VM, Tarnopolsky MA, Ainsworth PJ, Lin H, Rodenhiser DI, Krantz ID, Deardorff MA, Schwartz CE, Sadikovic B. Aref-Eshghi E, et al. Among authors: colaiacovo s. Am J Hum Genet. 2019 Apr 4;104(4):685-700. doi: 10.1016/j.ajhg.2019.03.008. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929737 Free PMC article.
Pitfalls in Genetic Testing for Consanguineous Pediatric Populations.
Saleh M, Colaiacovo S, Napier MP, Prasad AN, Rupar CA, Prasad C. Saleh M, et al. Among authors: colaiacovo s. Case Rep Genet. 2022 May 25;2022:9393042. doi: 10.1155/2022/9393042. eCollection 2022. Case Rep Genet. 2022. PMID: 35663206 Free PMC article.
OTX2 mutation associated with severe myopia in a Canadian family.
Wangding S, Colaiacovo S, Makar I, Saleh M. Wangding S, et al. Among authors: colaiacovo s. Ophthalmic Genet. 2022 Jun;43(3):389-391. doi: 10.1080/13816810.2021.2015791. Epub 2021 Dec 26. Ophthalmic Genet. 2022. PMID: 34957897
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