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Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.
Reichart D, Lindberg EL, Maatz H, Miranda AMA, Viveiros A, Shvetsov N, Gärtner A, Nadelmann ER, Lee M, Kanemaru K, Ruiz-Orera J, Strohmenger V, DeLaughter DM, Patone G, Zhang H, Woehler A, Lippert C, Kim Y, Adami E, Gorham JM, Barnett SN, Brown K, Buchan RJ, Chowdhury RA, Constantinou C, Cranley J, Felkin LE, Fox H, Ghauri A, Gummert J, Kanda M, Li R, Mach L, McDonough B, Samari S, Shahriaran F, Yapp C, Stanasiuk C, Theotokis PI, Theis FJ, van den Bogaerdt A, Wakimoto H, Ware JS, Worth CL, Barton PJR, Lee YA, Teichmann SA, Milting H, Noseda M, Oudit GY, Heinig M, Seidman JG, Hubner N, Seidman CE. Reichart D, et al. Among authors: strohmenger v. Science. 2022 Aug 5;377(6606):eabo1984. doi: 10.1126/science.abo1984. Epub 2022 Aug 5. Science. 2022. PMID: 35926050 Free PMC article.
Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypes.
McKean DM, Zhang Q, Narayan P, Morton SU, Strohmenger V, Tang VT, McAllister S, Sharma A, Quiat D, Reichart D, DeLaughter DM, Wakimoto H, Gorham JM, Brown K, McDonough B, Willcox JA, Jang MY, DePalma SR, Ward T; Pediatric Cardiac Genomics Consortium Investigators; Kim R, Cleveland JD, Seidman JG, Seidman CE. McKean DM, et al. Among authors: strohmenger v. J Clin Invest. 2024 Jun 3;134(11):e167811. doi: 10.1172/JCI167811. J Clin Invest. 2024. PMID: 38828726 Free PMC article.