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Pierpont, Mary Ella, Brueckner, Martina, Chung, Wendy K, Garg, Vidu, Lacro, Ronald V, McGuire, Amy L, Mital, Seema, Priest, James R, Pu, William T, Roberts, Amy, Ware, Stephanie M, Gelb, Bruce D, Russell, Mark W
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Published in Circulation (New York, N.Y.) (20.11.2018)
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Noonan syndrome
Roberts, Amy E, Dr, Allanson, Judith E, Prof, Tartaglia, Marco, PhD, Gelb, Bruce D, Prof
Published in The Lancet (British edition) (26.01.2013)
Published in The Lancet (British edition) (26.01.2013)
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Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition
Andelfinger, Gregor, Marquis, Christopher, Raboisson, Marie-Josée, Théoret, Yves, Waldmüller, Stephan, Wiegand, Gesa, Gelb, Bruce D., Zenker, Martin, Delrue, Marie-Ange, Hofbeck, Michael
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Published in Journal of the American College of Cardiology (07.05.2019)
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Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy
Cashman, Timothy J, Josowitz, Rebecca, Johnson, Bryce V, Gelb, Bruce D, Costa, Kevin D
Published in PloS one (19.01.2016)
Published in PloS one (19.01.2016)
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Distinct epigenetic programs regulate cardiac myocyte development and disease in the human heart in vivo
Gilsbach, Ralf, Schwaderer, Martin, Preissl, Sebastian, Grüning, Björn A., Kranzhöfer, David, Schneider, Pedro, Nührenberg, Thomas G., Mulero-Navarro, Sonia, Weichenhan, Dieter, Braun, Christian, Dreßen, Martina, Jacobs, Adam R., Lahm, Harald, Doenst, Torsten, Backofen, Rolf, Krane, Markus, Gelb, Bruce D., Hein, Lutz
Published in Nature communications (26.01.2018)
Published in Nature communications (26.01.2018)
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ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation
Gelb, Bruce D, Cavé, Hélène, Dillon, Mitchell W, Gripp, Karen W, Lee, Jennifer A, Mason-Suares, Heather, Rauen, Katherine A, Williams, Bradley, Zenker, Martin, Vincent, Lisa M
Published in Genetics in medicine (01.11.2018)
Published in Genetics in medicine (01.11.2018)
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Small open reading frames: a comparative genetics approach to validation
Jain, Niyati, Richter, Felix, Adzhubei, Ivan, Sharp, Andrew J, Gelb, Bruce D
Published in BMC genomics (01.05.2023)
Published in BMC genomics (01.05.2023)
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Noonan syndrome: clinical features, diagnosis, and management guidelines
Romano, Alicia A, Allanson, Judith E, Dahlgren, Jovanna, Gelb, Bruce D, Hall, Bryan, Pierpont, Mary Ella, Roberts, Amy E, Robinson, Wanda, Takemoto, Clifford M, Noonan, Jacqueline A
Published in Pediatrics (Evanston) (01.10.2010)
Published in Pediatrics (Evanston) (01.10.2010)
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Noonan syndrome and related disorders: genetics and pathogenesis
Tartaglia, Marco, Gelb, Bruce D
Published in Annual review of genomics and human genetics (01.01.2005)
Published in Annual review of genomics and human genetics (01.01.2005)
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Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis
Belkaya, Serkan, PhD, Kontorovich, Amy R., MD, PhD, Byun, Minji, PhD, Mulero-Navarro, Sonia, PhD, Bajolle, Fanny, MD, PhD, Cobat, Aurelie, MD, PhD, Josowitz, Rebecca, MD, PhD, Itan, Yuval, PhD, Quint, Raphaelle, MSc, Lorenzo, Lazaro, MSc, Boucherit, Soraya, MD, Stoven, Cecile, MD, Di Filippo, Sylvie, MD, PhD, Abel, Laurent, MD, PhD, Zhang, Shen-Ying, MD, PhD, Bonnet, Damien, MD, PhD, Gelb, Bruce D., MD, Casanova, Jean-Laurent, MD, PhD
Published in Journal of the American College of Cardiology (04.04.2017)
Published in Journal of the American College of Cardiology (04.04.2017)
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Atenolol versus Losartan in Children and Young Adults with Marfan's Syndrome
Lacro, Ronald V, Dietz, Harry C, Sleeper, Lynn A, Yetman, Anji T, Bradley, Timothy J, Colan, Steven D, Pearson, Gail D, Selamet Tierney, E. Seda, Levine, Jami C, Atz, Andrew M, Benson, D. Woodrow, Braverman, Alan C, Chen, Shan, De Backer, Julie, Gelb, Bruce D, Grossfeld, Paul D, Klein, Gloria L, Lai, Wyman W, Liou, Aimee, Loeys, Bart L, Markham, Larry W, Olson, Aaron K, Paridon, Stephen M, Pemberton, Victoria L, Pierpont, Mary Ella, Pyeritz, Reed E, Radojewski, Elizabeth, Roman, Mary J, Sharkey, Angela M, Stylianou, Mario P, Wechsler, Stephanie Burns, Young, Luciana T, Mahony, Lynn
Published in The New England journal of medicine (27.11.2014)
Published in The New England journal of medicine (27.11.2014)
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De novo variants in exomes of congenital heart disease patients identify risk genes and pathways
Sevim Bayrak, Cigdem, Zhang, Peng, Tristani-Firouzi, Martin, Gelb, Bruce D, Itan, Yuval
Published in Genome medicine (15.01.2020)
Published in Genome medicine (15.01.2020)
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Published in Nature (London) (10.06.2010)
Published in Nature (London) (10.06.2010)
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De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
Watkins, W. Scott, Hernandez, E. Javier, Wesolowski, Sergiusz, Bisgrove, Brent W., Sunderland, Ryan T., Lin, Edwin, Lemmon, Gordon, Demarest, Bradley L., Miller, Thomas A., Bernstein, Daniel, Brueckner, Martina, Chung, Wendy K., Gelb, Bruce D., Goldmuntz, Elizabeth, Newburger, Jane W., Seidman, Christine E., Shen, Yufeng, Yost, H. Joseph, Yandell, Mark, Tristani-Firouzi, Martin
Published in Nature communications (17.10.2019)
Published in Nature communications (17.10.2019)
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