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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 Free PMC article.
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W, Jin SC, Sierant MC, Lu Z, Li B, Lu Q, Morton SU, Zhang J, López-Giráldez F, Nelson-Williams C, Knight JR, Zhao H, Cao J, Mane S, Gruber PJ, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S, Russell M, Gaynor JW, Cnota JF, Wagner M, Srivastava D, Bernstein D, Porter GA Jr, Newburger J, Roberts AE, Yandell M, Yost HJ, Tristani-Firouzi M, Kim R, Seidman J, Chung WK, Gelb BD, Seidman CE, Lifton RP, Brueckner M. Dong W, et al. Proc Natl Acad Sci U S A. 2025 Mar 11;122(10):e2419992122. doi: 10.1073/pnas.2419992122. Epub 2025 Mar 3. Proc Natl Acad Sci U S A. 2025. PMID: 40030011 Free PMC article.
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.
Sierant MC, Jin SC, Bilguvar K, Morton SU, Dong W, Jiang W, Lu Z, Li B, López-Giráldez F, Tikhonova I, Zeng X, Lu Q, Choi J, Zhang J, Nelson-Williams C, Knight JR, Zhao H, Cao J, Mane S, Sedore SC, Gruber PJ, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S, Russell M, Gaynor JW, King E, Wagner M, Srivastava D, Shen Y, Bernstein D, Porter GA Jr, Newburger JW, Seidman JG, Roberts AE, Yandell M, Yost HJ, Tristani-Firouzi M, Kim R, Chung WK, Gelb BD, Seidman CE, Brueckner M, Lifton RP. Sierant MC, et al. Proc Natl Acad Sci U S A. 2025 Apr;122(13):e2420343122. doi: 10.1073/pnas.2420343122. Epub 2025 Mar 24. Proc Natl Acad Sci U S A. 2025. PMID: 40127276 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. 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.
Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes.
Yu M, Aguirre M, Jia M, Gjoni K, Cordova-Palomera A, Munger C, Amgalan D, Rosa Ma X, Pereira A, Tcheandjieu C, Seidman C, Seidman J, Tristani-Firouzi M, Chung W, Goldmuntz E, Srivastava D, Loos RJF, Chami N, Cordell H, Dreßen M, Mueller-Myhsok B, Lahm H, Krane M, Pollard KS, Engreitz JM, Gagliano Taliun SA, Gelb BD, Priest JR. Yu M, et al. Circ Genom Precis Med. 2023 Jun;16(3):258-266. doi: 10.1161/CIRCGEN.122.003968. Epub 2023 Apr 7. Circ Genom Precis Med. 2023. PMID: 37026454 Free PMC article.
Genetic and clinical variables act synergistically to impact neurodevelopmental outcomes in children with single ventricle heart disease.
Miller TA, Hernandez EJ, Gaynor JW, Russell MW, Newburger JW, Chung W, Goldmuntz E, Cnota JF, Zyblewski SC, Mahle WT, Zak V, Ravishankar C, Kaltman JR, McCrindle BW, Clarke S, Votava-Smith JK, Graham EM, Seed M, Rudd N, Bernstein D, Lee TM, Yandell M, Tristani-Firouzi M. Miller TA, et al. Commun Med (Lond). 2023 Sep 27;3(1):127. doi: 10.1038/s43856-023-00361-2. Commun Med (Lond). 2023. PMID: 37758840 Free PMC article.
Automated Identification of Germline de novo Mutations in Family Trios: A Consensus-Based Informatic Approach.
Shadrina M, Kalay Ö, Demirkaya-Budak S, LeDuc CA, Chung WK, Turgut D, Budak G, Arslan E, Semenyuk V, Davis-Dusenbery B, Seidman CE, Yost HJ, Jain A, Gelb BD. Shadrina M, et al. bioRxiv [Preprint]. 2024 Mar 13:2024.03.08.584100. doi: 10.1101/2024.03.08.584100. bioRxiv. 2024. Update in: Life Sci Alliance. 2025 Mar 28;8(6):e202403039. doi: 10.26508/lsa.202403039. PMID: 38559260 Free PMC article. Updated. Preprint.