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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

17 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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.
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.
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
X-linked BCOR-related syndrome in two male siblings.
Archer NE, Mercer L, Goobie S, Velsher L, Colaiacovo S, Prasad C. Archer NE, et al. Among authors: colaiacovo s. Clin Dysmorphol. 2021 Apr 1;30(2):104-109. doi: 10.1097/MCD.0000000000000359. Clin Dysmorphol. 2021. PMID: 33229924 No abstract available.
Bulging anterior fontanelle and dense bones in an infant.
Halgren CR, Lakhani J, Colaiacovo S, Prasad C. Halgren CR, et al. Among authors: colaiacovo s. Paediatr Child Health. 2020 Mar;25(2):69-71. doi: 10.1093/pch/pxz004. Epub 2019 Mar 20. Paediatr Child Health. 2020. PMID: 33390741 Free PMC article. No abstract available.
Aromatase deficiency in an Ontario Old Order Mennonite family.
Kim SY, Colaiacovo S, Dave S, Coughlin K, Langdon K, Stein R, Saleh M. Kim SY, et al. Among authors: colaiacovo s. J Pediatr Endocrinol Metab. 2021 Aug 5;34(12):1615-1618. doi: 10.1515/jpem-2021-0229. Print 2021 Dec 20. J Pediatr Endocrinol Metab. 2021. PMID: 34348419
17 results