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Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease.
Xiao F, Zhang X, Morton SU, Kim SW, Fan Y, Gorham JM, Zhang H, Berkson PJ, Mazumdar N, Cao Y, Chen J, Hagen J, Liu X, Zhou P, Richter F, Shen Y, Ward T, Gelb BD, Seidman JG, Seidman CE, Pu WT. Xiao F, et al. Among authors: richter f. Nat Genet. 2024 Mar;56(3):420-430. doi: 10.1038/s41588-024-01669-y. Epub 2024 Feb 20. Nat Genet. 2024. PMID: 38378865
A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease.
Richter F, Rutherford KD, Cooke AJ, Meshkati M, Eddy-Abrams V, Greene D, Kosowsky J, Park Y, Aggarwal S, Burke RJ, Chang W, Connors J, Giannone PJ, Hays T, Khattar D, Polak M, Senaldi L, Smith-Raska M, Sridhar S, Steiner L, Swanson JR, Tauber KA, Barbosa M, Guttmann KF, Turro E. Richter F, et al. Am J Kidney Dis. 2024 Jan 10:S0272-6386(24)00010-6. doi: 10.1053/j.ajkd.2023.12.011. Online ahead of print. Am J Kidney Dis. 2024. PMID: 38211685
527 results