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Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide.
Blue GM, Kirk EP, Giannoulatou E, Sholler GF, Dunwoodie SL, Harvey RP, Winlaw DS. Blue GM, et al. Among authors: giannoulatou e. J Am Coll Cardiol. 2017 Feb 21;69(7):859-870. doi: 10.1016/j.jacc.2016.11.060. J Am Coll Cardiol. 2017. PMID: 28209227 Free article. Review.
SVPV: a structural variant prediction viewer for paired-end sequencing datasets.
Munro JE, Dunwoodie SL, Giannoulatou E. Munro JE, et al. Among authors: giannoulatou e. Bioinformatics. 2017 Jul 1;33(13):2032-2033. doi: 10.1093/bioinformatics/btx117. Bioinformatics. 2017. PMID: 28334120
AVAILABILITY AND IMPLEMENTATION: SVPV is available at GitHub ( https://github.com/VCCRI/SVPV/ ). CONTACT: e.giannoulatou@victorchang.edu.au. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online....
AVAILABILITY AND IMPLEMENTATION: SVPV is available at GitHub ( https://github.com/VCCRI/SVPV/ ). CONTACT: e.giannoulatou@victo …
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL. Shi H, et al. Among authors: giannoulatou e. N Engl J Med. 2017 Aug 10;377(6):544-552. doi: 10.1056/NEJMoa1616361. N Engl J Med. 2017. PMID: 28792876 Free article.
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.
Szot JO, Cuny H, Blue GM, Humphreys DT, Ip E, Harrison K, Sholler GF, Giannoulatou E, Leo P, Duncan EL, Sparrow DB, Ho JWK, Graham RM, Pachter N, Chapman G, Winlaw DS, Dunwoodie SL. Szot JO, et al. Among authors: giannoulatou e. Circ Genom Precis Med. 2018 Mar;11(3):e001978. doi: 10.1161/CIRCGEN.117.001978. Circ Genom Precis Med. 2018. PMID: 29555671
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.
Alankarage D, Ip E, Szot JO, Munro J, Blue GM, Harrison K, Cuny H, Enriquez A, Troup M, Humphreys DT, Wilson M, Harvey RP, Sholler GF, Graham RM, Ho JWK, Kirk EP, Pachter N, Chapman G, Winlaw DS, Giannoulatou E, Dunwoodie SL. Alankarage D, et al. Among authors: giannoulatou e. Genet Med. 2019 May;21(5):1111-1120. doi: 10.1038/s41436-018-0296-x. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293987 Free article.
Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection.
Adlam D, Olson TM, Combaret N, Kovacic JC, Iismaa SE, Al-Hussaini A, O'Byrne MM, Bouajila S, Georges A, Mishra K, Braund PS, d'Escamard V, Huang S, Margaritis M, Nelson CP, de Andrade M, Kadian-Dodov D, Welch CA, Mazurkiewicz S, Jeunemaitre X; DISCO Consortium; Wong CMY, Giannoulatou E, Sweeting M, Muller D, Wood A, McGrath-Cadell L, Fatkin D, Dunwoodie SL, Harvey R, Holloway C, Empana JP, Jouven X; CARDIoGRAMPlusC4D Study Group; Olin JW, Gulati R, Tweet MS, Hayes SN, Samani NJ, Graham RM, Motreff P, Bouatia-Naji N. Adlam D, et al. Among authors: giannoulatou e. J Am Coll Cardiol. 2019 Jan 8;73(1):58-66. doi: 10.1016/j.jacc.2018.09.085. J Am Coll Cardiol. 2019. PMID: 30621952 Free PMC article.
150 results