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A vascular endothelial growth factor A genetic variant is associated with improved ventricular function and transplant-free survival after surgery for non-syndromic CHD.
Mavroudis CD, Seung Kim D, Burnham N, Morss AH, Kim JH, Burt AA, Crosslin DR, McDonald-McGinn DM, Zackai EH, Cohen MS, Nicolson SC, Spray TL, Stanaway IB, Nickerson DA, Russell MW, Hakonarson H, Jarvik GP, Gaynor JW. Mavroudis CD, et al. Among authors: hakonarson h. Cardiol Young. 2018 Jan;28(1):39-45. doi: 10.1017/S1047951117001391. Epub 2017 Sep 20. Cardiol Young. 2018. PMID: 28927471
A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.
Haldeman-Englert CR, Gai X, Perin JC, Ciano M, Halbach SS, Geiger EA, McDonald-McGinn DM, Hakonarson H, Zackai EH, Shaikh TH. Haldeman-Englert CR, et al. Among authors: hakonarson h. Eur J Med Genet. 2009 Jul-Aug;52(4):265-8. doi: 10.1016/j.ejmg.2008.11.005. Epub 2008 Dec 13. Eur J Med Genet. 2009. PMID: 19100872 Free PMC article.
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SF, White PS, Hakonarson H. Shaikh TH, et al. Among authors: hakonarson h. Genome Res. 2009 Sep;19(9):1682-90. doi: 10.1101/gr.083501.108. Epub 2009 Jul 10. Genome Res. 2009. PMID: 19592680 Free PMC article.
Mosaic trisomy 17: variable clinical and cytogenetic presentation.
Daber R, Chapman KA, Ruchelli E, Kasperski S, Mulchandani S, Thiel BD, Hakonarson H, Zackai EH, Conlin LK, Spinner NB. Daber R, et al. Among authors: hakonarson h. Am J Med Genet A. 2011 Oct;155A(10):2489-95. doi: 10.1002/ajmg.a.34172. Am J Med Genet A. 2011. PMID: 21998853 Free PMC article.
Results of genome-wide analyses on neurodevelopmental phenotypes at four-year follow-up following cardiac surgery in infancy.
Kim DS, Stanaway IB, Rajagopalan R, Bernbaum JC, Solot CB, Burnham N, Zackai EH, Clancy RR, Nicolson SC, Gerdes M, Nickerson DA, Hakonarson H, Gaynor JW, Jarvik GP. Kim DS, et al. Among authors: hakonarson h. PLoS One. 2012;7(9):e45936. doi: 10.1371/journal.pone.0045936. Epub 2012 Sep 25. PLoS One. 2012. PMID: 23049896 Free PMC article.
Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.
Conlin LK, Kaur M, Izumi K, Campbell L, Wilkens A, Clark D, Deardorff MA, Zackai EH, Pallister P, Hakonarson H, Spinner NB, Krantz ID. Conlin LK, et al. Among authors: hakonarson h. Am J Med Genet A. 2012 Dec;158A(12):3046-53. doi: 10.1002/ajmg.a.35726. Epub 2012 Nov 20. Am J Med Genet A. 2012. PMID: 23169773
Loci influencing blood pressure identified using a cardiovascular gene-centric array.
Ganesh SK, Tragante V, Guo W, Guo Y, Lanktree MB, Smith EN, Johnson T, Castillo BA, Barnard J, Baumert J, Chang YP, Elbers CC, Farrall M, Fischer ME, Franceschini N, Gaunt TR, Gho JM, Gieger C, Gong Y, Isaacs A, Kleber ME, Mateo Leach I, McDonough CW, Meijs MF, Mellander O, Molony CM, Nolte IM, Padmanabhan S, Price TS, Rajagopalan R, Shaffer J, Shah S, Shen H, Soranzo N, van der Most PJ, Van Iperen EP, Van Setten J, Vonk JM, Zhang L, Beitelshees AL, Berenson GS, Bhatt DL, Boer JM, Boerwinkle E, Burkley B, Burt A, Chakravarti A, Chen W, Cooper-Dehoff RM, Curtis SP, Dreisbach A, Duggan D, Ehret GB, Fabsitz RR, Fornage M, Fox E, Furlong CE, Gansevoort RT, Hofker MH, Hovingh GK, Kirkland SA, Kottke-Marchant K, Kutlar A, Lacroix AZ, Langaee TY, Li YR, Lin H, Liu K, Maiwald S, Malik R; CARDIOGRAM, METASTROKE; Murugesan G, Newton-Cheh C, O'Connell JR, Onland-Moret NC, Ouwehand WH, Palmas W, Penninx BW, Pepine CJ, Pettinger M, Polak JF, Ramachandran VS, Ranchalis J, Redline S, Ridker PM, Rose LM, Scharnag H, Schork NJ, Shimbo D, Shuldiner AR, Srinivasan SR, Stolk RP, Taylor HA, Thorand B, Trip MD, van Duijn CM, Verschuren WM, Wijmenga C, Winkelmann BR, Wyatt S, Young JH, Boehm BO, Caulfie… See abstract for full author list ➔ Ganesh SK, et al. Among authors: hakonarson h. Hum Mol Genet. 2013 Apr 15;22(8):1663-78. doi: 10.1093/hmg/dds555. Epub 2013 Jan 8. Hum Mol Genet. 2013. PMID: 23303523 Free PMC article.
1,032 results