Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact

Summary: Neurodevelopmental impairments associated with congenital heart disease (CHD) may arise from perturbations in brain developmental pathways, including the formation of sulcal patterns. While genetic factors contribute to sulcal features, the association of noncoding de novo variants (ncDNVs)...

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Main Authors: Enrique Mondragon-Estrada, Jane W. Newburger, Steven R. DePalma, Martina Brueckner, John Cleveland, Wendy K. Chung, Bruce D. Gelb, Elizabeth Goldmuntz, Donald J. Hagler, Jr., Hao Huang, Patrick McQuillen, Thomas A. Miller, Ashok Panigrahy, George A. Porter, Jr., Amy E. Roberts, Caitlin K. Rollins, Mark W. Russell, Martin Tristani-Firouzi, P. Ellen Grant, Kiho Im, Sarah U. Morton
Format: Article
Language:English
Published: Elsevier 2025-02-01
Series:iScience
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Online Access:http://www.sciencedirect.com/science/article/pii/S2589004224029341
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