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Page 1
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.
Chetaille P, Preuss C, Burkhard S, Côté JM, Houde C, Castilloux J, Piché J, Gosset N, Leclerc S, Wünnemann F, Thibeault M, Gagnon C, Galli A, Tuck E, Hickson GR, El Amine N, Boufaied I, Lemyre E, de Santa Barbara P, Faure S, Jonzon A, Cameron M, Dietz HC, Gallo-McFarlane E, Benson DW, Moreau C, Labuda D; FORGE Canada Consortium; Zhan SH, Shen Y, Jomphe M, Jones SJ, Bakkers J, Andelfinger G. Chetaille P, et al. Among authors: benson dw. Nat Genet. 2014 Nov;46(11):1245-9. doi: 10.1038/ng.3113. Epub 2014 Oct 5. Nat Genet. 2014. PMID: 25282101
Bicuspid aortic valve is heritable.
Cripe L, Andelfinger G, Martin LJ, Shooner K, Benson DW. Cripe L, et al. Among authors: benson dw. J Am Coll Cardiol. 2004 Jul 7;44(1):138-43. doi: 10.1016/j.jacc.2004.03.050. J Am Coll Cardiol. 2004. PMID: 15234422 Free article.
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Audain E, Wilsdon A, Breckpot J, Izarzugaza JMG, Fitzgerald TW, Kahlert AK, Sifrim A, Wünnemann F, Perez-Riverol Y, Abdul-Khaliq H, Bak M, Bassett AS, Benson DW, Berger F, Daehnert I, Devriendt K, Dittrich S, Daubeney PE, Garg V, Hackmann K, Hoff K, Hofmann P, Dombrowsky G, Pickardt T, Bauer U, Keavney BD, Klaassen S, Kramer HH, Marshall CR, Milewicz DM, Lemaire S, Coselli JS, Mitchell ME, Tomita-Mitchell A, Prakash SK, Stamm K, Stewart AFR, Silversides CK, Siebert R, Stiller B, Rosenfeld JA, Vater I, Postma AV, Caliebe A, Brook JD, Andelfinger G, Hurles ME, Thienpont B, Larsen LA, Hitz MP. Audain E, et al. Among authors: benson dw. PLoS Genet. 2021 Jul 29;17(7):e1009679. doi: 10.1371/journal.pgen.1009679. eCollection 2021 Jul. PLoS Genet. 2021. PMID: 34324492 Free PMC article.
Polymorphic ventricular tachycardia and KCNJ2 mutations.
Chun TU, Epstein MR, Dick M 2nd, Andelfinger G, Ballester L, Vanoye CG, George AL Jr, Benson DW. Chun TU, et al. Among authors: benson dw. Heart Rhythm. 2004 Jul;1(2):235-41. doi: 10.1016/j.hrthm.2004.02.017. Heart Rhythm. 2004. PMID: 15851159
The complex genetics of hypoplastic left heart syndrome.
Liu X, Yagi H, Saeed S, Bais AS, Gabriel GC, Chen Z, Peterson KA, Li Y, Schwartz MC, Reynolds WT, Saydmohammed M, Gibbs B, Wu Y, Devine W, Chatterjee B, Klena NT, Kostka D, de Mesy Bentley KL, Ganapathiraju MK, Dexheimer P, Leatherbury L, Khalifa O, Bhagat A, Zahid M, Pu W, Watkins S, Grossfeld P, Murray SA, Porter GA Jr, Tsang M, Martin LJ, Benson DW, Aronow BJ, Lo CW. Liu X, et al. Among authors: benson dw. Nat Genet. 2017 Jul;49(7):1152-1159. doi: 10.1038/ng.3870. Epub 2017 May 22. Nat Genet. 2017. PMID: 28530678 Free PMC article.
324 results