The Hole and the Whole: Lessons from Manipulation of Nipbl Deficiency. מאת Bruce D Gelb

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The Phosphatase CSW Controls Life Span by Insulin Signaling and Metabolism Throughout Adult Life in Drosophila מאת Leonardo R. Ruzzi, Pablo E. Schilman, Alvaro San Martin, Sergio E. Lew, Bruce D. Gelb, Bruce D. Gelb, Bruce D. Gelb, Mario R. Pagani

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Fgfr3 is a transcriptional target of Ap2delta and Ash2l-containing histone methyltransferase complexes. מאת Cheryl C Tan, Martin J Walsh, Bruce D Gelb

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Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease מאת Anne M. Slavotinek, Michelle L. Thompson, Lisa J. Martin, Bruce D. Gelb

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Small open reading frames: a comparative genetics approach to validation מאת Niyati Jain, Felix Richter, Ivan Adzhubei, Andrew J. Sharp, Bruce D. Gelb

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De novo variants in exomes of congenital heart disease patients identify risk genes and pathways מאת Cigdem Sevim Bayrak, Peng Zhang, Martin Tristani-Firouzi, Bruce D. Gelb, Yuval Itan

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PPA2 Deficiency in 2 Sisters מאת Will Genthe, MS, Colleen Donnelly, MS, David Ezon, MD, Veronica Fettig, MS, Jaya Ganesh, MD, Isaac Marin-Valecia, MD, Bruce D. Gelb, MD

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Trisomy 21 and Congenital Heart Disease: Impact on Health and Functional Outcomes From Birth Through Adolescence: A Scientific Statement From the American Heart Association מאת Jennifer K. Peterson, Shanelle Clarke, Bruce D. Gelb, Nadine A. Kasparian, Vanna Kazazian, Karyn Pieciak, Nancy A. Pike, Shaun P. Setty, Melissa K. Uveges, Nancy A. Rudd

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Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes מאת Rebecca Josowitz, Sonia Mulero-Navarro, Nelson A. Rodriguez, Christine Falce, Ninette Cohen, Erik M. Ullian, Lauren A. Weiss, Katherine A. Rauen, Eric A. Sobie, Bruce D. Gelb

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Identification and purification of human induced pluripotent stem cell-derived atrial-like cardiomyocytes based on sarcolipin expression. מאת Rebecca Josowitz, Jia Lu, Christine Falce, Sunita L D'Souza, Meng Wu, Ninette Cohen, Nicole C Dubois, Yong Zhao, Eric A Sobie, Glenn I Fishman, Bruce D Gelb

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“Is that something that should concern me?”: a qualitative exploration of parent understanding of their child’s genomic test results מאת Dana Watnick, Jacqueline A. Odgis, Sabrina A. Suckiel, Katie M. Gallagher, Nehama Teitelman, Katherine E. Donohue, Bruce D. Gelb, Eimear E. Kenny, Melissa P. Wasserstein, Carol R. Horowitz, Siobhan M. Dolan, Laurie J. Bauman

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Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency מאת Bryn D Webb, Sara M Nowinski, Ashley Solmonson, Jaya Ganesh, Richard J Rodenburg, Joao Leandro, Anthony Evans, Hieu S Vu, Thomas P Naidich, Bruce D Gelb, Ralph J DeBerardinis, Jared Rutter, Sander M Houten

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Quantitative Prediction of Right Ventricular Size and Function From the ECG מאת Son Q. Duong, Akhil Vaid, Vy Thi Ha My, Liam R. Butler, Joshua Lampert, Robert H. Pass, Alexander W. Charney, Jagat Narula, Rohan Khera, Ankit Sakhuja, Hayit Greenspan, Bruce D. Gelb, Ron Do, Girish N. Nadkarni

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Distinct epigenetic programs regulate cardiac myocyte development and disease in the human heart in vivo מאת Ralf Gilsbach, Martin Schwaderer, Sebastian Preissl, Björn A. Grüning, David Kranzhöfer, Pedro Schneider, Thomas G. Nührenberg, Sonia Mulero-Navarro, Dieter Weichenhan, Christian Braun, Martina Dreßen, Adam R. Jacobs, Harald Lahm, Torsten Doenst, Rolf Backofen, Markus Krane, Bruce D. Gelb, Lutz Hein

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The Congenital Heart Disease Genetic Network Study: Cohort description. מאת Thanh T Hoang, Elizabeth Goldmuntz, Amy E Roberts, Wendy K Chung, Jennie K Kline, John E Deanfield, Alessandro Giardini, Adolfo Aleman, Bruce D Gelb, Meghan Mac Neal, George A Porter, Richard Kim, Martina Brueckner, Richard P Lifton, Sharon Edman, Stacy Woyciechowski, Laura E Mitchell, A J Agopian

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De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes מאת W. Scott Watkins, E. Javier Hernandez, Sergiusz Wesolowski, Brent W. Bisgrove, Ryan T. Sunderland, Edwin Lin, Gordon Lemmon, Bradley L. Demarest, Thomas A. Miller, Daniel Bernstein, Martina Brueckner, Wendy K. Chung, Bruce D. Gelb, Elizabeth Goldmuntz, Jane W. Newburger, Christine E. Seidman, Yufeng Shen, H. Joseph Yost, Mark Yandell, Martin Tristani-Firouzi

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Loss of RNA expression and allele-specific expression associated with congenital heart disease מאת David M. McKean, Jason Homsy, Hiroko Wakimoto, Neil Patel, Joshua Gorham, Steven R. DePalma, James S. Ware, Samir Zaidi, Wenji Ma, Nihir Patel, Richard P. Lifton, Wendy K. Chung, Richard Kim, Yufeng Shen, Martina Brueckner, Elizabeth Goldmuntz, Andrew J. Sharp, Christine E. Seidman, Bruce D. Gelb, J. G. Seidman

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Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles. מאת Alejandro Martin-Trujillo, Nihir Patel, Felix Richter, Bharati Jadhav, Paras Garg, Sarah U Morton, David M McKean, Steven R DePalma, Elizabeth Goldmuntz, Dorota Gruber, Richard Kim, Jane W Newburger, George A Porter, Alessandro Giardini, Daniel Bernstein, Martin Tristani-Firouzi, Jonathan G Seidman, Christine E Seidman, Wendy K Chung, Bruce D Gelb, Andrew J Sharp

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Association of genetic and sulcal traits with executive function in congenital heart disease מאת Lara Maleyeff, Jane W. Newburger, David Wypij, Nina H. Thomas, Evdokia Anagnoustou, Martina Brueckner, Wendy K. Chung, John Cleveland, Sean Cunningham, Bruce D. Gelb, Elizabeth Goldmuntz, Donald J Hagler Jr, Hao Huang, Eileen King, Patrick McQuillen, Thomas A. Miller, Ami Norris‐Brilliant, George A. Porter Jr, Amy E. Roberts, P. Ellen Grant, Kiho Im, Sarah U. Morton

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Identification of rare de novo epigenetic variations in congenital disorders מאת Mafalda Barbosa, Ricky S. Joshi, Paras Garg, Alejandro Martin-Trujillo, Nihir Patel, Bharati Jadhav, Corey T. Watson, William Gibson, Kelsey Chetnik, Chloe Tessereau, Hui Mei, Silvia De Rubeis, Jennifer Reichert, Fatima Lopes, Lisenka E. L. M. Vissers, Tjitske Kleefstra, Dorothy E. Grice, Lisa Edelmann, Gabriela Soares, Patricia Maciel, Han G. Brunner, Joseph D. Buxbaum, Bruce D. Gelb, Andrew J. Sharp

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