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

23 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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: quercia n. NPJ Genom Med. 2016 Jan 13;1:15012-. doi: 10.1038/npjgenmed.2015.12. NPJ Genom Med. 2016. PMID: 28567303 Free PMC article.
Detecting rearrangements in children using subtelomeric FISH and SKY.
Clarkson B, Pavenski K, Dupuis L, Kennedy S, Meyn S, Nezarati MM, Nie G, Weksberg R, Withers S, Quercia N, Teebi AS, Teshima I. Clarkson B, et al. Among authors: quercia n. Am J Med Genet. 2002 Feb 1;107(4):267-74. doi: 10.1002/ajmg.10240. Am J Med Genet. 2002. PMID: 11840482
Primary ciliary dyskinesia: mechanisms and management.
Damseh N, Quercia N, Rumman N, Dell SD, Kim RH. Damseh N, et al. Among authors: quercia n. Appl Clin Genet. 2017 Sep 19;10:67-74. doi: 10.2147/TACG.S127129. eCollection 2017. Appl Clin Genet. 2017. PMID: 29033599 Free PMC article. Review.
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: quercia n. 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.
23 results