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Page 1
Kousseff syndrome: a causally heterogeneous disorder.
Maclean K, Field MJ, Colley AS, Mowat DR, Sparrow DB, Dunwoodie SL, Kirk EP. Maclean K, et al. Among authors: dunwoodie sl. Am J Med Genet A. 2004 Jan 30;124A(3):307-12. doi: 10.1002/ajmg.a.20418. Am J Med Genet A. 2004. PMID: 14708106
Tinman/Nkx2-5 acts via miR-1 and upstream of Cdc42 to regulate heart function across species.
Qian L, Wythe JD, Liu J, Cartry J, Vogler G, Mohapatra B, Otway RT, Huang Y, King IN, Maillet M, Zheng Y, Crawley T, Taghli-Lamallem O, Semsarian C, Dunwoodie S, Winlaw D, Harvey RP, Fatkin D, Towbin JA, Molkentin JD, Srivastava D, Ocorr K, Bruneau BG, Bodmer R. Qian L, et al. J Cell Biol. 2011 Jun 27;193(7):1181-96. doi: 10.1083/jcb.201006114. Epub 2011 Jun 20. J Cell Biol. 2011. PMID: 21690310 Free PMC article.
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.
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: dunwoodie sl. N Engl J Med. 2017 Aug 10;377(6):544-552. doi: 10.1056/NEJMoa1616361. N Engl J Med. 2017. PMID: 28792876 Free article.
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Slavotinek A, Risolino M, Losa M, Cho MT, Monaghan KG, Schneidman-Duhovny D, Parisotto S, Herkert JC, Stegmann APA, Miller K, Shur N, Chui J, Muller E, DeBrosse S, Szot JO, Chapman G, Pachter NS, Winlaw DS, Mendelsohn BA, Dalton J, Sarafoglou K, Karachunski PI, Lewis JM, Pedro H, Dunwoodie SL, Selleri L, Shieh J. Slavotinek A, et al. Among authors: dunwoodie sl. Hum Mol Genet. 2017 Dec 15;26(24):4849-4860. doi: 10.1093/hmg/ddx363. Hum Mol Genet. 2017. PMID: 29036646 Free PMC 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: dunwoodie sl. Circ Genom Precis Med. 2018 Mar;11(3):e001978. doi: 10.1161/CIRCGEN.117.001978. Circ Genom Precis Med. 2018. PMID: 29555671
145 results