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Page 1
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.
Soemedi R, Wilson IJ, Bentham J, Darlay R, Töpf A, Zelenika D, Cosgrove C, Setchfield K, Thornborough C, Granados-Riveron J, Blue GM, Breckpot J, Hellens S, Zwolinkski S, Glen E, Mamasoula C, Rahman TJ, Hall D, Rauch A, Devriendt K, Gewillig M, O' Sullivan J, Winlaw DS, Bu'Lock F, Brook JD, Bhattacharya S, Lathrop M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD. Soemedi R, et al. Among authors: goodship ja. Am J Hum Genet. 2012 Sep 7;91(3):489-501. doi: 10.1016/j.ajhg.2012.08.003. Epub 2012 Aug 30. Am J Hum Genet. 2012. PMID: 22939634 Free PMC article.
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.
Cordell HJ, Töpf A, Mamasoula C, Postma AV, Bentham J, Zelenika D, Heath S, Blue G, Cosgrove C, Granados Riveron J, Darlay R, Soemedi R, Wilson IJ, Ayers KL, Rahman TJ, Hall D, Mulder BJ, Zwinderman AH, van Engelen K, Brook JD, Setchfield K, Bu'Lock FA, Thornborough C, O'Sullivan J, Stuart AG, Parsons J, Bhattacharya S, Winlaw D, Mital S, Gewillig M, Breckpot J, Devriendt K, Moorman AF, Rauch A, Lathrop GM, Keavney BD, Goodship JA. Cordell HJ, et al. Among authors: goodship ja. Hum Mol Genet. 2013 Apr 1;22(7):1473-81. doi: 10.1093/hmg/dds552. Epub 2013 Jan 7. Hum Mol Genet. 2013. PMID: 23297363 Free PMC article.
Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.
Griffin HR, Töpf A, Glen E, Zweier C, Stuart AG, Parsons J, Peart I, Deanfield J, O'Sullivan J, Rauch A, Scambler P, Burn J, Cordell HJ, Keavney B, Goodship JA. Griffin HR, et al. Among authors: goodship ja. Heart. 2010 Oct;96(20):1651-5. doi: 10.1136/hrt.2010.200121. Heart. 2010. PMID: 20937753 Free PMC article.
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, Hall D, Huang N, Bentham J, Bhattacharya S, Cosgrove C, Brook JD, Granados-Riveron J, Setchfield K, Bu'lock F, Thornborough C, Devriendt K, Breckpot J, Hofbeck M, Lathrop M, Rauch A, Blue GM, Winlaw DS, Hurles M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD. Soemedi R, et al. Among authors: goodship ja. Hum Mol Genet. 2012 Apr 1;21(7):1513-20. doi: 10.1093/hmg/ddr589. Epub 2011 Dec 22. Hum Mol Genet. 2012. PMID: 22199024 Free PMC article.
A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.
Goodship JA, Hall D, Topf A, Mamasoula C, Griffin H, Rahman TJ, Glen E, Tan H, Palomino Doza J, Relton CL, Bentham J, Bhattacharya S, Cosgrove C, Brook D, Granados-Riveron J, Bu'Lock FA, O'Sullivan J, Stuart AG, Parsons J, Cordell HJ, Keavney B. Goodship JA, et al. Circ Cardiovasc Genet. 2012 Jun;5(3):287-92. doi: 10.1161/CIRCGENETICS.111.962035. Epub 2012 Apr 13. Circ Cardiovasc Genet. 2012. PMID: 22503907 Free PMC article.
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.
Twigg SR, Lloyd D, Jenkins D, Elçioglu NE, Cooper CD, Al-Sannaa N, Annagür A, Gillessen-Kaesbach G, Hüning I, Knight SJ, Goodship JA, Keavney BD, Beales PL, Gileadi O, McGowan SJ, Wilkie AO. Twigg SR, et al. Among authors: goodship ja. Am J Hum Genet. 2012 Nov 2;91(5):897-905. doi: 10.1016/j.ajhg.2012.08.027. Epub 2012 Oct 11. Am J Hum Genet. 2012. PMID: 23063620 Free PMC article.
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.
Cordell HJ, Bentham J, Topf A, Zelenika D, Heath S, Mamasoula C, Cosgrove C, Blue G, Granados-Riveron J, Setchfield K, Thornborough C, Breckpot J, Soemedi R, Martin R, Rahman TJ, Hall D, van Engelen K, Moorman AF, Zwinderman AH, Barnett P, Koopmann TT, Adriaens ME, Varro A, George AL Jr, dos Remedios C, Bishopric NH, Bezzina CR, O'Sullivan J, Gewillig M, Bu'Lock FA, Winlaw D, Bhattacharya S, Devriendt K, Brook JD, Mulder BJ, Mital S, Postma AV, Lathrop GM, Farrall M, Goodship JA, Keavney BD. Cordell HJ, et al. Among authors: goodship ja. Nat Genet. 2013 Jul;45(7):822-4. doi: 10.1038/ng.2637. Epub 2013 May 26. Nat Genet. 2013. PMID: 23708191 Free PMC article.
Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls.
Mamasoula C, Prentice RR, Pierscionek T, Pangilinan F, Mills JL, Druschel C, Pass K, Russell MW, Hall D, Töpf A, Brown DL, Zelenika D, Bentham J, Cosgrove C, Bhattacharya S, Riveron JG, Setchfield K, Brook JD, Bu'Lock FA, Thornborough C, Rahman TJ, Doza JP, Tan HL, O'Sullivan J, Stuart AG, Blue G, Winlaw D, Postma AV, Mulder BJ, Zwinderman AH, van Engelen K, Moorman AF, Rauch A, Gewillig M, Breckpot J, Devriendt K, Lathrop GM, Farrall M, Goodship JA, Cordell HJ, Brody LC, Keavney BD. Mamasoula C, et al. Among authors: goodship ja. Circ Cardiovasc Genet. 2013 Aug;6(4):347-53. doi: 10.1161/CIRCGENETICS.113.000191. Epub 2013 Jul 22. Circ Cardiovasc Genet. 2013. PMID: 23876493 Free PMC article.
170 results