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AI-based analysis of fetal growth restriction in a prospective obstetric cohort quantifies compound risks for perinatal morbidity and mortality and identifies previously unrecogniz... by Raquel M. Zimmerman, Edgar J. Hernandez, Mark Yandell, Martin Tristani-Firouzi, Robert M. Silver, William Grobman, David Haas, George Saade, Jonathan Steller, Nathan R. Blue
Published 2025-01-01Get full text
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Enrichment of tandem repeat element variants near CHD genes identified by short- and long-read genome sequencing by Abhilash Suresh, Sarah U. Morton, Daniel Quiat, Steven R. DePalma, Joshua M. Gorham, Martina Brueckner, Martin Tristani-Firouzi, Bruce D. Gelb, Jonathan G. Seidman, Christine E. Seidman, the Pediatric Cardiac Genomics Consortium
Published 2025-07-01Get full text
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MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission by Bennet Peterson, Edwin F. Juarez, Barry Moore, Edgar Javier Hernandez, Erwin Frise, Jianrong Li, Yves Lussier, Martin Tristani-Firouzi, Martin G. Reese, Sabrina Malone Jenkins, Stephen F. Kingsmore, Matthew N. Bainbridge, Mark Yandell
Published 2025-06-01Get full text
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Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis by Tarsha Ward, Sarah U. Morton, Gabriela Venturini, Warren Tai, Min Young Jang, Joshua Gorham, Dan Delaughter, Lauren K. Wasson, Zahra Khazal, Jason Homsy, Bruce D. Gelb, Wendy K. Chung, Benoit G. Bruneau, Martina Brueckner, Martin Tristani‐Firouzi, Steven R. DePalma, Christine Seidman, J. G. Seidman
Published 2025-03-01Get full text
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Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact by 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
Published 2025-02-01Get full text
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Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery by W. Scott Watkins, Edgar J. Hernandez, Thomas A. Miller, Nathan R. Blue, Raquel Mae Zimmerman, Eric R. Griffiths, Erwin Frise, Daniel Bernstein, Marko T. Boskovski, Martina Brueckner, Wendy K. Chung, J. William Gaynor, Bruce D. Gelb, Elizabeth Goldmuntz, Peter J. Gruber, Jane W. Newburger, Amy E. Roberts, Sarah U. Morton, John E. Mayer, Christine E. Seidman, Jonathan G. Seidman, Yufeng Shen, Michael Wagner, H. Joseph Yost, Mark Yandell, Martin Tristani-Firouzi
Published 2025-07-01Get full text
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The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit by Sabrina Malone Jenkins, Rachel N. Palmquist, Barry Moore, Steven E. Boyden, Thomas J. Nicholas, Pinar Bayrak-Toydemir, Rong Mao, J. Andrew R. Farrell, Carson H. Holt, Shawn G. Rynearson, Chelsea M. Solorzano, Alistair Ward, D. Hunter Best, Najla Al-Sweel, Dawn L. Bentley, Luca Brunelli, Clement Y. Chow, Devin W. Close, Michael J. Cormier, Malia J. Deshotel, Jacob Durtschi, Erik J. Eide, Luaiva Floyd, Eric K. Fredrickson, Makenzie L. Fulmer, Edgar J. Hernandez, Ashley L. Kapron, Mary Anne Karren, Robert G. Lewis, Christine E. Miller, L. Charles Murtaugh, Kelsey E. Nicholson, Katherine Noble, Brendan D. O’Fallon, John M. O’Shea, David C. Pattison, Brent S. Pedersen, Brandy J. Petersen, Bennet D. Peterson, Lucilla Pizzo, Hayley M. Reynolds, Paul Rindler, Carrie B. Torr, Ting Wen, H. Joseph Yost, Jian Zhao, Mark Yandell, Gabor T. Marth, Aaron R. Quinlan, John C. Carey, Brian J. Shayota, Martin Tristani-Firouzi, Joshua L. Bonkowsky
Published 2025-03-01Get full text
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