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113 results for Gelb,+Bruce+D

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Gelb, Bruce D
Journal title:American Men & Women of Science : A Biographical Directory of Today’s Leaders in Physical, Biological and Related Sciences: GAL-HAL, 2022, p.3949-3949
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Gelb, Bruce D
Journal title:American Men & Women of Science : A Biographical Directory of Today’s Leaders in Physical, Biological and Related Sciences: GAL-HAL, 2021, p.3931-3931
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ArticlesPeer ReviewedFull Text
Noonan syndrome
Author / Creator:Roberts, Amy E, Dr ; Allanson, Judith E, Prof ; Tartaglia, Marco, PhD ; Gelb, Bruce D, Prof
Publisher:Kidlington: Elsevier Ltd
Journal title:The Lancet (British edition), 2013-01, Vol.381 (9863), p.333-342
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Enabling Technologies for Personalized and Precision Medicine
Author / Creator:Ho, Dean ; Quake, Stephen R ; McCabe, Edward R.B ; Chng, Wee Joo ; Chow, Edward K ; Ding, Xianting ; Gelb, Bruce D ; Ginsburg, Geoffrey S ; Hassenstab, Jason ; Ho, Chih-Ming ; Mobley, William C ; Nolan, Garry P ; Rosen, Steven T ; Tan, Patrick ; Yen, Yun ; Zarrinpar, Ali
Publisher:England: Elsevier Ltd
Journal title:Trends in biotechnology (Regular ed.), 2020-05, Vol.38 (5), p.497-518
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Distinct epigenetic programs regulate cardiac myocyte development and disease in the human heart in vivo
Author / Creator: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
Publisher:London: Nature Publishing Group
Journal title:Nature communications, 2018-01, Vol.9, p.1-14
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Small open reading frames: a comparative genetics approach to validation
Author / Creator:Jain, Niyati ; Richter, Felix ; Adzhubei, Ivan ; Sharp, Andrew J. ; Gelb, Bruce D.
Publisher:England: BioMed Central Ltd
Journal title:BMC genomics, 2023-05, Vol.24 (1), p.226-11, Article 226
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ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation
Author / Creator: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
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2018-11, Vol.20 (11), p.1334-1345
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Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy
Author / Creator:Cashman, Timothy J. ; Josowitz, Rebecca ; Johnson, Bryce V. ; Gelb, Bruce D. ; Costa, Kevin D.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-01, Vol.11 (1), p.e0146697-e0146697
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The Congenital Heart Disease Genetic Network Study: Cohort description
Author / Creator:Hoang, Thanh T. ; Goldmuntz, Elizabeth ; Roberts, Amy E. ; Chung, Wendy K. ; Kline, Jennie K. ; Deanfield, John E. ; Giardini, Alessandro ; Aleman, Adolfo ; Gelb, Bruce D. ; Mac Neal, Meghan ; Porter, George A. ; Kim, Richard ; Brueckner, Martina ; Lifton, Richard P. ; Edman, Sharon ; Woyciechowski, Stacy ; Mitchell, Laura E. ; Agopian, A. J.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-01, Vol.13 (1), p.e0191319
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De novo variants in exomes of congenital heart disease patients identify risk genes and pathways
Author / Creator:Sevim Bayrak, Cigdem ; Zhang, Peng ; Tristani-Firouzi, Martin ; Gelb, Bruce D. ; Itan, Yuval
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2020-01, Vol.12 (1), p.9-9, Article 9
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Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome
Author / Creator:Carvajal-Vergara, Xonia ; Sevilla, Ana ; D’Souza, Sunita L. ; Ang, Yen-Sin ; Schaniel, Christoph ; Lee, Dung-Fang ; Yang, Lei ; Kaplan, Aaron D. ; Adler, Eric D. ; Rozov, Roye ; Ge, YongChao ; Cohen, Ninette ; Edelmann, Lisa J. ; Chang, Betty ; Waghray, Avinash ; Su, Jie ; Pardo, Sherly ; Lichtenbelt, Klaske D. ; Tartaglia, Marco ; Gelb, Bruce D. ; Lemischka, Ihor R.
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2010-06, Vol.465 (7299), p.808-812
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De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2019-10, Vol.10 (1), p.4722-12, Article 4722
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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
Author / Creator:Cordeddu, Viviana ; Di Schiavi, Elia ; Pennacchio, Len A ; Ma'ayan, Avi ; Sarkozy, Anna ; Fodale, Valentina ; Cecchetti, Serena ; Cardinale, Alessio ; Martin, Joel ; Schackwitz, Wendy ; Lipzen, Anna ; Zampino, Giuseppe ; Mazzanti, Laura ; Digilio, Maria C ; Martinelli, Simone ; Flex, Elisabetta ; Lepri, Francesca ; Bartholdi, Deborah ; Kutsche, Kerstin ; Ferrero, Giovanni B ; Anichini, Cecilia ; Selicorni, Angelo ; Rossi, Cesare ; Tenconi, Romano ; Zenker, Martin ; Merlo, Daniela ; Dallapiccola, Bruno ; Iyengar, Ravi ; Bazzicalupo, Paolo ; Gelb, Bruce D ; Tartaglia, Marco
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2009-09, Vol.41 (9), p.1022-1026
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De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects
Author / Creator:Priest, James R. ; Osoegawa, Kazutoyo ; Mohammed, Nebil ; Nanda, Vivek ; Kundu, Ramendra ; Schultz, Kathleen ; Lammer, Edward J. ; Girirajan, Santhosh ; Scheetz, Todd ; Waggott, Daryl ; Haddad, Francois ; Reddy, Sushma ; Bernstein, Daniel ; Burns, Trudy ; Steimle, Jeffrey D. ; Yang, Xinan H. ; Moskowitz, Ivan P. ; Hurles, Matthew ; Lifton, Richard P. ; Nickerson, Debbie ; Bamshad, Michael ; Eichler, Evan E. ; Mital, Seema ; Sheffield, Val ; Quertermous, Thomas ; Gelb, Bruce D. ; Portman, Michael ; Ashley, Euan A.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2016-04, Vol.12 (4), p.e1005963-e1005963
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Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles
Author / Creator:Martin-Trujillo, Alejandro ; Patel, Nihir ; Richter, Felix ; Jadhav, Bharati ; Garg, Paras ; Morton, Sarah U. ; McKean, David M. ; DePalma, Steven R. ; Goldmuntz, Elizabeth ; Gruber, Dorota ; Kim, Richard ; Newburger, Jane W. ; Porter, George A. ; Giardini, Alessandro ; Bernstein, Daniel ; Tristani-Firouzi, Martin ; Seidman, Jonathan G. ; Seidman, Christine E. ; Chung, Wendy K. ; Gelb, Bruce D. ; Sharp, Andrew J.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2020-11, Vol.16 (11), p.e1009189
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A restricted spectrum of NRAS mutations causes Noonan syndrome
Author / Creator:Cirstea, Ion C ; Kutsche, Kerstin ; Dvorsky, Radovan ; Gremer, Lothar ; Carta, Claudio ; Horn, Denise ; Roberts, Amy E ; Lepri, Francesca ; Merbitz-Zahradnik, Torsten ; König, Rainer ; Kratz, Christian P ; Pantaleoni, Francesca ; Dentici, Maria L ; Joshi, Victoria A ; Kucherlapati, Raju S ; Mazzanti, Laura ; Mundlos, Stefan ; Patton, Michael A ; Silengo, Margherita Cirillo ; Rossi, Cesare ; Zampino, Giuseppe ; Digilio, Cristina ; Stuppia, Liborio ; Seemanova, Eva ; Pennacchio, Len A ; Gelb, Bruce D ; Dallapiccola, Bruno ; Wittinghofer, Alfred ; Ahmadian, Mohammad R ; Tartaglia, Marco ; Zenker, Martin
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2010-01, Vol.42 (1), p.27-29
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Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
Author / Creator:Tartaglia, Marco ; Pennacchio, Len A ; Zhao, Chen ; Yadav, Kamlesh K ; Fodale, Valentina ; Sarkozy, Anna ; Pandit, Bhaswati ; Oishi, Kimihiko ; Martinelli, Simone ; Schackwitz, Wendy ; Ustaszewska, Anna ; Martin, Joel ; Bristow, James ; Carta, Claudio ; Lepri, Francesca ; Neri, Cinzia ; Vasta, Isabella ; Gibson, Kate ; Curry, Cynthia J ; Siguero, Juan Pedro López ; Digilio, Maria Cristina ; Zampino, Giuseppe ; Dallapiccola, Bruno ; Bar-Sagi, Dafna ; Gelb, Bruce D
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2007-01, Vol.39 (1), p.75-79
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GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm
Author / Creator:Sharma, Arun ; Wasson, Lauren K ; Willcox, Jon AL ; Morton, Sarah U ; Gorham, Joshua M ; DeLaughter, Daniel M ; Neyazi, Meraj ; Schmid, Manuel ; Agarwal, Radhika ; Jang, Min Young ; Toepfer, Christopher N ; Ward, Tarsha ; Kim, Yuri ; Pereira, Alexandre C ; DePalma, Steven R ; Tai, Angela ; Kim, Seongwon ; Conner, David ; Bernstein, Daniel ; Gelb, Bruce D ; Chung, Wendy K ; Goldmuntz, Elizabeth ; Porter, George ; Tristani-Firouzi, Martin ; Srivastava, Deepak ; Seidman, Jonathan G ; Seidman, Christine E
Publisher:England: eLife Science Publications, Ltd
Journal title:eLife, 2020-10, Vol.9
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The Hole and the Whole: Lessons from Manipulation of Nipbl Deficiency
Author / Creator:Gelb, Bruce D.
Publisher:United States: Public Library of Science
Journal title:PLoS biology, 2016-09, Vol.14 (9), p.e2000494-e2000494
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Robust identification of mosaic variants in congenital heart disease
Author / Creator:Manheimer, Kathryn B. ; Richter, Felix ; Edelmann, Lisa J. ; D’Souza, Sunita L. ; Shi, Lisong ; Shen, Yufeng ; Homsy, Jason ; Boskovski, Marko T. ; Tai, Angela C. ; Gorham, Joshua ; Yasso, Christopher ; Goldmuntz, Elizabeth ; Brueckner, Martina ; Lifton, Richard P. ; Chung, Wendy K. ; Seidman, Christine E. ; Seidman, J. G. ; Gelb, Bruce D.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2018-02, Vol.137 (2), p.183-193
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Gelb, Bruce D

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Gelb, Bruce D

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Noonan syndrome

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Enabling Technologies for Personalized and Precision Medicine

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Distinct epigenetic programs regulate cardiac myocyte development and disease in the human heart in vivo

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Small open reading frames: a comparative genetics approach to validation

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ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation

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Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy

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The Congenital Heart Disease Genetic Network Study: Cohort description

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De novo variants in exomes of congenital heart disease patients identify risk genes and pathways

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Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome

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De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

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De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects

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Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles

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A restricted spectrum of NRAS mutations causes Noonan syndrome

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Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

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GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm

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The Hole and the Whole: Lessons from Manipulation of Nipbl Deficiency

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Robust identification of mosaic variants in congenital heart disease

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