Loss of ADAMTS19 causes progressive non-syndromic heart valve disease 9

Nat Genet. 2020 Jan;52(1):40-47. doi: 10.1038/s41588-019-0536-2.)

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Signature of CAID Syndrome: Noncanonical Roles of SGO1 in Regulation of TGF-β Signaling and Epigenomics (Cell Mol Gastroenterol Hepatol. 2019;7(2):411-431. doi: 10.1016/j.jcmgh.2018.10.011.)

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Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition (J Am Coll Cardiol. 2019 May 7;73(17):2237-2239. doi: 10.1016/j.jacc.2019.01.066.)

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ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm (d

Nat Genet. 2019 Jan;51(1):42-50. doi: 10.1038/s41588-018-0265-y. ) 

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Characterization of Sgo1 expression in developing and adult mouse (doi: 10.1016/j.gep.2017.04.004) 

Interattraction Signature of CAID Syndrome: Noncanonical Roles of SGO1 in Regulation of TGF-β Signaling and Epigenomics (Gene Expr Patterns. 2017 Nov;25-26:36-45. doi : 10..1016 /j.gep.2017.04.004.)

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Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease (PLoS Genet. 2016 Oct 19;12(10):e1006335. doi: 10.1371/journal.pgen.1006335.)

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Polymorphisms of ABCC5 and NOS3 genes influence doxorubicin cardiotoxicity in survivors of childhood acute lymphoblastic leukemia (Pharmacogenomics J. 2017 Jan;17(1):107. doi: 10.1038/tpj.2016.86. Epub 2016 Dec 13.) 

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Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm (Nat Genet. 2014 Nov;46(11):1245-9. doi: 10.1038/ng.3113. )