Dunwoodie SL - Search Results

1

Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing.

Carss KJ, Baranowska AA, Armisen J, Webb TR, Hamby SE, Premawardhana D, Al-Hussaini A, Wood A, Wang Q, Deevi SVV, Vitsios D, Lewis SH, Kotecha D, Bouatia-Naji N, Hesselson S, Iismaa SE, Tarr I, McGrath-Cadell L, Muller DW, Dunwoodie SL, Fatkin D, Graham RM, Giannoulatou E, Samani NJ, Petrovski S, Haefliger C, Adlam D. Carss KJ, et al. Among authors: dunwoodie sl. Circ Genom Precis Med. 2020 Dec;13(6):e003030. doi: 10.1161/CIRCGEN.120.003030. Epub 2020 Oct 30. Circ Genom Precis Med. 2020. PMID: 33125268 Free PMC article.

2

Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.

Sparrow DB, Chapman G, Wouters MA, Whittock NV, Ellard S, Fatkin D, Turnpenny PD, Kusumi K, Sillence D, Dunwoodie SL. Sparrow DB, et al. Among authors: dunwoodie sl. Am J Hum Genet. 2006 Jan;78(1):28-37. doi: 10.1086/498879. Epub 2005 Nov 16. Am J Hum Genet. 2006. PMID: 16385447 Free PMC article.

3

Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis.

Sparrow DB, Guillén-Navarro E, Fatkin D, Dunwoodie SL. Sparrow DB, et al. Among authors: dunwoodie sl. Hum Mol Genet. 2008 Dec 1;17(23):3761-6. doi: 10.1093/hmg/ddn272. Epub 2008 Sep 5. Hum Mol Genet. 2008. PMID: 18775957

4

Loss of Cited2 causes congenital heart disease by perturbing left-right patterning of the body axis.

Lopes Floro K, Artap ST, Preis JI, Fatkin D, Chapman G, Furtado MB, Harvey RP, Hamada H, Sparrow DB, Dunwoodie SL. Lopes Floro K, et al. Among authors: dunwoodie sl. Hum Mol Genet. 2011 Mar 15;20(6):1097-110. doi: 10.1093/hmg/ddq554. Epub 2010 Dec 28. Hum Mol Genet. 2011. PMID: 21224256

5

Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease.

Blue GM, Kirk EP, Giannoulatou E, Dunwoodie SL, Ho JW, Hilton DC, White SM, Sholler GF, Harvey RP, Winlaw DS. Blue GM, et al. Among authors: dunwoodie sl. J Am Coll Cardiol. 2014 Dec 16;64(23):2498-506. doi: 10.1016/j.jacc.2014.09.048. J Am Coll Cardiol. 2014. PMID: 25500235 Free article.

6

Gestational stress induces the unfolded protein response, resulting in heart defects.

Shi H, O'Reilly VC, Moreau JL, Bewes TR, Yam MX, Chapman BE, Grieve SM, Stocker R, Graham RM, Chapman G, Sparrow DB, Dunwoodie SL. Shi H, et al. Among authors: dunwoodie sl. Development. 2016 Jul 15;143(14):2561-72. doi: 10.1242/dev.136820. Development. 2016. PMID: 27436040

7

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: dunwoodie sl. 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.

8

SVPV: a structural variant prediction viewer for paired-end sequencing datasets.

Munro JE, Dunwoodie SL, Giannoulatou E. Munro JE, et al. Among authors: dunwoodie sl. Bioinformatics. 2017 Jul 1;33(13):2032-2033. doi: 10.1093/bioinformatics/btx117. Bioinformatics. 2017. PMID: 28334120

9

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: dunwoodie sl. Circ Genom Precis Med. 2018 Mar;11(3):e001978. doi: 10.1161/CIRCGEN.117.001978. Circ Genom Precis Med. 2018. PMID: 29555671

10

Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease.

Blue GM, Ip E, Walker K, Kirk EP, Loughran-Fowlds A, Sholler GF, Dunwoodie SL, Harvey RP, Giannoulatou E, Badawi N, Winlaw DS. Blue GM, et al. Among authors: dunwoodie sl. Am Heart J. 2018 Jul;201:33-39. doi: 10.1016/j.ahj.2018.03.021. Epub 2018 Apr 5. Am Heart J. 2018. PMID: 29910053

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