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222 results

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Page 1
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. J Clin Invest. 2024 Jun 3;134(11):e167811. doi: 10.1172/JCI167811. J Clin Invest. 2024. PMID: 38828726
Sequencing by avidity enables high accuracy with low reagent consumption.
Arslan S, Garcia FJ, Guo M, Kellinger MW, Kruglyak S, LeVieux JA, Mah AH, Wang H, Zhao J, Zhou C, Altomare A, Bailey J, Byrne MB, Chang C, Chen SX, Cho B, Dennler CN, Dien VT, Fuller D, Kelley R, Khandan O, Klein MG, Kim M, Lajoie BR, Lin B, Liu Y, Lopez T, Mains PT, Price AD, Robertson SR, Taylor-Weiner H, Tippana R, Tomaney AB, Zhang S, Abtahi M, Ambroso MR, Bajari R, Bellizzi AM, Benitez CB, Berard DR, Berti L, Blease KN, Blum AP, Boddicker AM, Bondar L, Brown C, Bui CA, Calleja-Aguirre J, Cappa K, Chan J, Chang VW, Charov K, Chen X, Constandse RM, Damron W, Dawood M, DeBuono N, Dimalanta JD, Edoli L, Elango K, Faustino N, Feng C, Ferrari M, Frankie K, Fries A, Galloway A, Gavrila V, Gemmen GJ, Ghadiali J, Ghorbani A, Goddard LA, Guetter AR, Hendricks GL, Hentschel J, Honigfort DJ, Hsieh YT, Hwang Fu YH, Im SK, Jin C, Kabu S, Kincade DE, Levy S, Li Y, Liang VK, Light WH, Lipsher JB, Liu TL, Long G, Ma R, Mailloux JM, Mandla KA, Martinez AR, Mass M, McKean DT, Meron M, Miller EA, Moh CS, Moore RK, Moreno J, Neysmith JM, Niman CS, Nunez JM, Ojeda MT, Ortiz SE, Owens J, Piland G, Proctor DJ, Purba JB, Ray M, Rong D, Saade VM, Saha S, Tomas GS, Scheidler N, Sirajudeen LH, Sn… See abstract for full author list ➔ Arslan S, et al. Among authors: mckean dt. Nat Biotechnol. 2024 Jan;42(1):132-138. doi: 10.1038/s41587-023-01750-7. Epub 2023 May 25. Nat Biotechnol. 2024. PMID: 37231263 Free PMC article.
Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease.
Jang MY, Patel PN, Pereira AC, Willcox JAL, Haghighi A, Tai AC, Ito K, Morton SU, Gorham JM, McKean DM, DePalma SR, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, Newburger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb BD, Porter GA Jr, Seidman CE, Seidman JG. Jang MY, et al. Among authors: mckean dm. Circ Genom Precis Med. 2023 Jun;16(3):224-231. doi: 10.1161/CIRCGEN.122.003924. Epub 2023 May 11. Circ Genom Precis Med. 2023. PMID: 37165897 Free PMC article.
Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk.
Willcox JAL, Geiger JT, Morton SU, McKean D, Quiat D, Gorham JM, Tai AC, DePalma S, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, Newburger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb B, Porter GA Jr, Seidman JG, Seidman CE. Willcox JAL, et al. Among authors: mckean d. Am J Hum Genet. 2022 May 5;109(5):961-966. doi: 10.1016/j.ajhg.2022.03.011. Epub 2022 Apr 8. Am J Hum Genet. 2022. PMID: 35397206 Free PMC article.
222 results