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Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency.
Lirussi F, Jonard L, Gaston V, Sanlaville D, Kooy RF, Winnepenninckx B, Maher ER, Fitzpatrick DR, Gicquel C, Portnoï MF, Couderc R, Vazquez MP, Bahuau M. Lirussi F, et al. Among authors: fitzpatrick dr. Am J Med Genet A. 2007 Dec 1;143A(23):2796-803. doi: 10.1002/ajmg.a.31768. Am J Med Genet A. 2007. PMID: 17994567
Enhancer-adoption as a mechanism of human developmental disease.
Lettice LA, Daniels S, Sweeney E, Venkataraman S, Devenney PS, Gautier P, Morrison H, Fantes J, Hill RE, FitzPatrick DR. Lettice LA, et al. Among authors: fitzpatrick dr. Hum Mutat. 2011 Dec;32(12):1492-9. doi: 10.1002/humu.21615. Epub 2011 Oct 20. Hum Mutat. 2011. PMID: 21948517
A trans-acting protein effect causes severe eye malformation in the Mp mouse.
Rainger J, Keighren M, Keene DR, Charbonneau NL, Rainger JK, Fisher M, Mella S, Huang JT, Rose L, van't Hof R, Sakai LY, Jackson IJ, Fitzpatrick DR. Rainger J, et al. Among authors: fitzpatrick dr. PLoS Genet. 2013;9(12):e1003998. doi: 10.1371/journal.pgen.1003998. Epub 2013 Dec 12. PLoS Genet. 2013. PMID: 24348270 Free PMC article.
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.
Rainger JK, Bhatia S, Bengani H, Gautier P, Rainger J, Pearson M, Ansari M, Crow J, Mehendale F, Palinkasova B, Dixon MJ, Thompson PJ, Matarin M, Sisodiya SM, Kleinjan DA, Fitzpatrick DR. Rainger JK, et al. Among authors: fitzpatrick dr. Hum Mol Genet. 2014 May 15;23(10):2569-79. doi: 10.1093/hmg/ddt647. Epub 2013 Dec 20. Hum Mol Genet. 2014. PMID: 24363063 Free PMC article.
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.
Williamson KA, Rainger J, Floyd JA, Ansari M, Meynert A, Aldridge KV, Rainger JK, Anderson CA, Moore AT, Hurles ME, Clarke A, van Heyningen V, Verloes A, Taylor MS, Wilkie AO; UK10K Consortium; Fitzpatrick DR. Williamson KA, et al. Among authors: fitzpatrick dr. Am J Hum Genet. 2014 Feb 6;94(2):295-302. doi: 10.1016/j.ajhg.2014.01.001. Epub 2014 Jan 23. Am J Hum Genet. 2014. PMID: 24462371 Free PMC article.
FRA2A is a CGG repeat expansion associated with silencing of AFF3.
Metsu S, Rooms L, Rainger J, Taylor MS, Bengani H, Wilson DI, Chilamakuri CS, Morrison H, Vandeweyer G, Reyniers E, Douglas E, Thompson G, Haan E, Gecz J, Fitzpatrick DR, Kooy RF. Metsu S, et al. Among authors: fitzpatrick dr. PLoS Genet. 2014 Apr 24;10(4):e1004242. doi: 10.1371/journal.pgen.1004242. eCollection 2014 Apr. PLoS Genet. 2014. PMID: 24763282 Free PMC article.
253 results