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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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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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Investigating the Impact of Screen-Sharing Visual Aids during Genomic Results Disclosure via Telehealth in Diverse Families in the TeleKidSeq Pilot Study by Jacqueline A. Odgis, Nicole R. Kelly, Monisha Sebastin, Laura Golfinopoulos, Beverly J. Insel, Sabrina A. Suckiel, Katherine E. Bonini, Priya N. Marathe, Miranda Di Biase, Kaitlyn Brown, Katie M. Gallagher, Michelle A. Ramos, Jessica E. Rodriguez, Nicole Yelton, Karla López Aguiñiga, Michelle A. Rodriguez, Estefany María, Jessenia Lopez, Randi E. Zinberg, George A. Diaz, John M. Greally, Noura S. Abul-Husn, Laurie J. Bauman, Bruce D. Gelb, Carol R. Horowitz, Eimear E. Kenny, Melissa P. Wasserstein
Published 2025-01-01Get full text
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Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels by Emma H. Wilcox, Ryan F. Webb, Kezang C. Tshering, Madeline Y. Hughes, Hélène Cavé, Marina T. DiStefano, Hannah Dziadzio, Kate Garber, Bruce D. Gelb, Karen W. Gripp, Shoji Ichikawa, Jennifer A. Lee, Hannah McCurry, Marco Tartaglia, Bradley Williams, Martin Zenker, Lisa M. Vincent, Heather Mason-Suares, Bradley Williams, Bruce Gelb, Hannah Dziadzio, Heather Mason-Suares, Hélène Cavé, Jennifer Lee, Karen Gripp, Kat Lafferty, Kezang Tshering, Lisa Vincent, Luis Enrique Gomez, Marco Tartaglia, Marina DiStefano, Martin Zenker, Reza Ahmadian, Ryan Webb, Shoji Ichikawa
Published 2025-01-01Get full text
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