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Page 1
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. Among authors: porter ga jr. 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.
Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart disease.
Kwon H, Son S, Morton SU, Wypij D, Cleveland J, Rollins CK, Huang H, Goldmuntz E, Panigrahy A, Thomas NH, Chung WK, Anagnostou E, Norris-Brilliant A, Gelb BD, McQuillen P, Porter GA Jr, Tristani-Firouzi M, Russell MW, Roberts AE, Newburger JW, Grant PE, Lee JM, Im K. Kwon H, et al. Among authors: porter ga jr. Med Image Anal. 2025 May;102:103538. doi: 10.1016/j.media.2025.103538. Epub 2025 Feb 28. Med Image Anal. 2025. PMID: 40121807
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. Among authors: porter ga jr. 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.
Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact.
Mondragon-Estrada E, Newburger JW, DePalma SR, Brueckner M, Cleveland J, Chung WK, Gelb BD, Goldmuntz E, Hagler DJ Jr, Huang H, McQuillen P, Miller TA, Panigrahy A, Porter GA Jr, Roberts AE, Rollins CK, Russell MW, Tristani-Firouzi M, Grant PE, Im K, Morton SU. Mondragon-Estrada E, et al. Among authors: porter ga jr. iScience. 2024 Dec 28;28(2):111707. doi: 10.1016/j.isci.2024.111707. eCollection 2025 Feb 21. iScience. 2024. PMID: 39877905 Free PMC article.
Environmental Signals.
Porter GA Jr. Porter GA Jr. Adv Exp Med Biol. 2024;1441:397-416. doi: 10.1007/978-3-031-44087-8_20. Adv Exp Med Biol. 2024. PMID: 38884722
58 results