Bruce D. Gelb
1991–2025 年に発表
- 182
- 論文数
- 30,791
- 被引用数
- 91
- h 指数
- 171
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Biochemistry, Genetics and Molecular Biology53.2%
- Medicine38.8%
- Neuroscience2.2%
- Immunology and Microbiology2%
- Engineering1.1%
- Computer Science0.7%
- その他2%
トピック
- Congenital heart defects research4.5%
- Protein Tyrosine Phosphatases3.8%
- Congenital Heart Disease Studies3%
- Genomics and Rare Diseases2.9%
- Cardiomyopathy and Myosin Studies2.1%
- Galectins and Cancer Biology2%
- その他81.7%
共著者
- Marco Tartaglia37
- Elizabeth Goldmuntz22
- Wendy K. Chung21
- Christine E. Seidman20
- Amy E. Roberts19
- Sarah U. Morton18
- George A. Porter17
- Martina Brueckner15
- Jane W. Newburger13
- Martin Tristani‐Firouzi12
- Daniel Bernstein11
- Deepak Srivastava11
- Giuseppe Zampino11
- Martin Zenker11
- Steven R. DePalma11
- Yufeng Shen11
- Anna Giardini10
- Bruno Dallapiccola10
- Cesare Rossi10
- Francesca Pantaleoni10
- Jonathan G. Seidman10
- Nihir Patel10
- Francesca Romana Lepri9
- George A. Díaz9
全論文
- Enabling Technologies for Personalized and Precision Medicine
著者: Dean Ho, Stephen R. Quake, Edward R.B. McCabe, Wee Joo Chng, Edward Kai‐Hua Chow, Xianting Ding, Bruce D. Gelb, Geoffrey S. Ginsburg, Jason Hassenstab, Chih‐Ming Ho, William C. Mobley, Garry P. Nolan, Steven T. Rosen, Patrick Tan, Yun Yen, Ali Zarrinpar - Trends in biotechnology 2020 被引用: 484
- Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
著者: Sheng Chih Jin, Jason Homsy, Samir Zaidi, Qiongshi Lu, Sarah U. Morton, Steven R. DePalma, Xue Zeng, Hongjian Qi, Wen-I Chang, Michael C. Sierant, Wei-Chien Hung, Shozeb Haider, Junhui Zhang, James Knight, Robert Bjornson, Christopher Castaldi, Irina R Tikhonoa, Kaya Bilgüvar, Shrikant Mane, Stephan Sanders, Seema Mital, Mark W. Russell, J. William Gaynor, John Deanfield, Anna Giardini, George A. Porter, Deepak Srivastava, Cecilia Lo, Yufeng Shen, W. Scott Watkins, Mark Yandell, H. Joseph Yost, Martin Tristani‐Firouzi, Jane W. Newburger, Amy E. Roberts, Richard Kim, Hongyu Zhao, Jonathan R. Kaltman, Elizabeth Goldmuntz, Wendy K. Chung, Jonathan G. Seidman, Bruce D. Gelb, Christine E. Seidman, Richard P. Lifton, Martina Brueckner - Nature Genetics 2017 被引用: 928
- De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
著者: Jason Homsy, Samir Zaidi, Yufeng Shen, James S. Ware, Kaitlin E. Samocha, Konrad J. Karczewski, Steven R. DePalma, David McKean, Hiroko Wakimoto, Josh Gorham, Sheng Chih Jin, John Deanfield, Anna Giardini, George A. Porter, Richard Kim, Kaya Bilgüvar, Francesc López‐Giráldez, Irina Tikhonova, Shrikant Mane, Angela Romano-Adesman, Hongjian Qi, Badri N. Vardarajan, Lijiang Ma, Mark J. Daly, Amy E. Roberts, Mark W. Russell, Seema Mital, Jane W. Newburger, J. William Gaynor, Roger E. Breitbart, Ivan Iossifov, Michael Ronemus, Stephan Sanders, Jonathan R. Kaltman, Jonathan G. Seidman, Martina Brueckner, Bruce D. Gelb, Elizabeth Goldmuntz, Richard P. Lifton, Christine E. Seidman, Wendy K. Chung - Science 2015 被引用: 910
- Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
著者: Mary Ella Pierpont, Martina Brueckner, Wendy K. Chung, Vidu Garg, Ronald V. Lacro, Amy L. McGuire, Seema Mital, James R. Priest, William T. Pu, Amy E. Roberts, Stephanie M. Ware, Bruce D. Gelb, Mark W. Russell - Circulation 2018 被引用: 650
- De novo mutations in histone-modifying genes in congenital heart disease
著者: Samir Zaidi, Murim Choi, Hiroko Wakimoto, Lijiang Ma, Jianming Jiang, John D. Overton, Angela Romano-Adesman, Robert Bjornson, Roger E. Breitbart, Kerry K. Brown, Nicholas Carriero, Yee Him Cheung, John Deanfield, Steven R. DePalma, Khalid A. Fakhro, Joseph Glessner, Håkon Håkonarson, Michael J. Italia, Jonathan R. Kaltman, Juan Pablo Kaski, Richard Kim, Jennie Kline, Teresa Lee, Jeremy Leipzig, Alexander Lopez, Shrikant Mane, Laura E. Mitchell, Jane W. Newburger, Michael Parfenov, Itsik Pe’er, George A. Porter, Amy E. Roberts, Ravi Sachidanandam, Stephan Sanders, Howard Seiden, Mathew W. State, Sai Lakshmi Subramanian, Irina R. Tikhonova, Wei Wang, Dorothy Warburton, Peter S. White, Ismée A. Williams, Hongyu Zhao, Jonathan G. Seidman, Martina Brueckner, Wendy K. Chung, Bruce D. Gelb, Elizabeth Goldmuntz, Christine E. Seidman, Richard P. Lifton - Nature 2013 被引用: 968
- Noonan syndrome
著者: Amy E. Roberts, Judith Allanson, Marco Tartaglia, Bruce D. Gelb - The Lancet 2013 被引用: 769
- Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
著者: Marco Tartaglia, Ernest L. Mehler, Rosalie Goldberg, Giuseppe Zampino, Han G. Brunner, Hannie Kremer, Ineke van der Burgt, Andrew H. Crosby, Andra Ion, Steve Jeffery, Kamini Kalidas, Michael A. Patton, Raju Kucherlapati, Bruce D. Gelb - Nature Genetics 2001 被引用: 1,735
- Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition
著者: Grégor Andelfinger, Christopher Marquis, Marie‐Josée Raboisson, Yves Théorêt, Stephan Waldmüller, G. Wiegand, Bruce D. Gelb, Martin Zenker, Marie‐Ange Delrue, Michael Hofbeck - Journal of the American College of Cardiology 2019 被引用: 179
- Mapping Systemic Inflammation and Antibody Responses in Multisystem Inflammatory Syndrome in Children (MIS-C)
著者: Conor Gruber, Roosheel S. Patel, Rebecca Trachtman, Lauren Lepow, Fatima Amanat, Florian Krammer, Karen M. Wilson, Kenan Onel, Daniel Geanon, Kevin Tuballes, Manishkumar Patel, Konstantinos Mouskas, Timothy J. O’Donnell, Elliot Merritt, Nicole W. Simons, Vanessa Barcessat, Diane M. Del Valle, Samantha Udondem, Gurpawan Kang, Charuta Agashe, Neha Karekar, Joanna Grabowska, Kai Nie, Jessica Le Bérichel, Hui Xie, Noam D. Beckmann, Sandeep Gangadharan, George Ofori‐Amanfo, Uri Laserson, Adeeb Rahman, Seunghee Kim‐Schulze, Alexander W. Charney, Sacha Gnjatic, Bruce D. Gelb, Miriam Mérad, Dusan Bogunovic - Cell 2020 被引用: 562
- Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function
著者: Conor Gruber, Jorg J. A. Calis, Sofija Buta, Gilad D. Evrony, J.P. Martin, Skyler Uhl, Rachel Caron, Lauren Jarchin, David Dunkin, Robert Phelps, Bryn D. Webb, Jeffrey M. Saland, Miriam Mérad, Jordan S. Orange, Emily M. Mace, Brad R. Rosenberg, Bruce D. Gelb, Dusan Bogunovic - Immunity 2020 被引用: 127
- Genetic association analysis of 77,539 genomes reveals rare disease etiologies
著者: Daniel Greene, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al‐Owain, Arnaud P. J. Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D. Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah, Claire Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki Morisaki, Pia Østergaard, Bart Loeys, Hiroko Morisaki, Zubair M. Ahmed, Graeme M. Birdsey, Kathleen Freson, Andrew Mumford, Ernest Turro - Nature Medicine 2023 被引用: 80
- Genetics of Congenital Heart Disease
著者: Akl C. Fahed, Bruce D. Gelb, J. G. Seidman, Christine E. Seidman - Circulation Research 2013 被引用: 587
- Molecular states during acute COVID-19 reveal distinct etiologies of long-term sequelae
著者: Ryan C. Thompson, Nicole W. Simons, Lillian Wilkins, Esther Cheng, Diane M. Del Valle, Gabriel E. Hoffman, Carlo Cervia, Brian Fennessy, Konstantinos Mouskas, Nancy Francoeur, Jessica Johnson, Lauren Lepow, Jessica Le Bérichel, Christie Chang, Aviva G. Beckmann, Ying‐Chih Wang, Kai Nie, Nicholas Zaki, Kevin Tuballes, Vanessa Barcessat, Mario A. Cedillo, Dan Yuan, Laura M. Huckins, Panos Roussos, Thomas U. Marron, The Mount Sinai COVID-19 Biobank Team, Charuta Agashe, Priyal Agrawal, Alara Akyatan, Kasey Alesso-Carra, Eziwoma Alibo, Kelvin Alvarez, Angelo Amabile, Carmen Argmann, Kimberly Argueta, Steven Ascolillo, Rasheed Bailey, Craig Batchelor, Noam D. Beckmann, Priya Begani, Dusan Bogunovic, Swaroop Bose, Cansu Cimen Bozkus, Paloma Bravo, Stacey-Ann Whittaker Brown, Mark Buckup, Larissa Burka, Sharlene Calorossi, Lena Cambron, Guillermo Carbonell, Gina Carrara, Mario A. Cedillo, Christie Chang, Serena Chang, Steven T. Chen, Jonathan Chien, Mashkura Chowdhury, Jonathan Chung, Phillip Comella, Dana Cosgrove, Francesca Cossarini, Liam Cotter, Arpit Dave, Travis Dawson, Bheesham D. Dayal, Maxime Dhainaut, Rebecca Dornfeld, Katie Dul, Melody Eaton, Nissan Eber, Cordelia Elaiho, Ethan Ellis, Frank Fabris, Jeremiah J. Faith, Dominique Falci, Susie Feng, Marie Fernandes, Nataly Fishman, Nancy Francoeur, Sandeep Gangadharan, Daniel Geanon, Bruce D. Gelb, Benjamin S. Glicksberg, Sacha Gnjatic, Edgar Gonzalez‐Kozlova, Joanna Grabowska, Gavin Gyimesi, Maha Hamdani, Diana Handler, Jocelyn Harris, Matthew Hartnett, Sandra Hatem, Manon Herbinet, Elva Herrera, Arielle Hochman, Gabriel E. Hoffman, Jaime L. Hook, Laila Horta, Étienne Humblin, Suraj K. Jaladanki ほか 115 名 - Nature Medicine 2022 被引用: 73
- Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
著者: Bhaswati Pandit, Anna Sárközy, L Pennacchio, Claudio Carta, Kimihiko Oishi, Simone Martinelli, Edgar A. Pogna, Wendy Schackwitz, Anna Ustaszewska, Andrew P. Landstrom, J. Martijn Bos, Steve R. Ommen, Giorgia Esposito, Francesca Romana Lepri, Christian Faul, Peter Mündel, Juan Pedro López Siguero, Romano Tenconi, Angelo Selicorni, Cesare Rossi, Laura Mazzanti, Isabella Torrente, Bruno Marino, M. Cristina Digilio, Giuseppe Zampino, Michael J. Ackerman, Bruno Dallapiccola, Marco Tartaglia, Bruce D. Gelb - Nature Genetics 2007 被引用: 702
- Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia
著者: Marco Tartaglia, Charlotte M. Niemeyer, Alessandra Fragale, Xiaoling Song, Jochen Buechner, Andreas Jung, Karel Hählen, Henrik Hasle, Jonathan D. Licht, Bruce D. Gelb - Nature Genetics 2003 被引用: 1,039
- Genomic analyses implicate noncoding de novo variants in congenital heart disease
著者: Felix Richter, Sarah U. Morton, Seong Won Kim, Alexander Kitaygorodsky, Lauren K. Wasson, Kathleen Chen, Jian Zhou, Hongjian Qi, Nihir Patel, Steven R. DePalma, Michael Parfenov, Jason Homsy, Joshua Gorham, Kathryn B. Manheimer, Matthew Velinder, Andrew Farrell, Gábor Marth, Eric E. Schadt, Jonathan R. Kaltman, Jane W. Newburger, Anna Giardini, Elizabeth Goldmuntz, Martina Brueckner, Richard Kim, George A. Porter, Daniel Bernstein, Wendy K. Chung, Deepak Srivastava, Martin Tristani‐Firouzi, Olga G. Troyanskaya, Diane E. Dickel, Yufeng Shen, Jonathan G. Seidman, Christine E. Seidman, Bruce D. Gelb - Nature Genetics 2020 被引用: 177
- Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association
著者: Andrew P. Landstrom, Jeffrey J. Kim, Bruce D. Gelb, Benjamin M. Helm, Prince J. Kannankeril, Christopher Semsarian, Amy C. Sturm, Martin Tristani‐Firouzi, Stephanie M. Ware - Circulation Genomic and Precision Medicine 2021 被引用: 112
- Myopathic Cardiac Genotypes Increase Risk for Myocarditis
著者: Amy Kontorovich, Nihir Patel, Arden Moscati, Felix Richter, Inga Peter, Enkhsaikhan Purevjav, Simina Selejan, Ingrid Kindermann, Jeffrey A. Towbin, Michael Böhm, Karin Klingel, Bruce D. Gelb - JACC Basic to Translational Science 2021 被引用: 86
- SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype
著者: Marialetizia Motta, Giulia Fasano, Sina Gredy, Julia Brinkmann, Adeline Bonnard, Pelin Özlem Şimşek‐Kiper, Elif Yılmaz Güleç, L. Essaddam, Gülen Eda Ütine, Ingrid G. Prandi, Martina Venditti, Francesca Pantaleoni, Francesca Clementina Radio, Andrea Ciolfi, Stefania Petrini, Federica Consoli, Cédric Vignal, Denis Hepbasli, Melanie Ullrich, Elke de Boer, Lisenka E.L.M. Vissers, Sami Gritli, Cesare Rossi, Alessandro De Luca, S. Ben Bêcher, Bruce D. Gelb, Bruno Dallapiccola, Antonella Lauri, Giovanni Chillemi, Kai Schuh, Hélène Cavé, Martin Zenker, Marco Tartaglia - The American Journal of Human Genetics 2021 被引用: 80
- Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder
著者: Jill L. Maron, Stephen F. Kingsmore, Bruce D. Gelb, Jerry Vockley, Kristen Wigby, Jennifer Bragg, Annemarie Stroustrup, Brenda B. Poindexter, Kristen Suhrie, Jae H. Kim, Thomas G. Diacovo, Cynthia M. Powell, Andrea Trembath, Lucia Guidugli, Katarzyna A. Ellsworth, Dallas Reed, Anne Kurfiss, Janis L. Breeze, Ludovic Trinquart, Jonathan M. Davis - JAMA 2023 被引用: 72
- Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines
著者: Alicia Romanò, Judith Allanson, Jovanna Dahlgren, Bruce D. Gelb, Bryan D. Hall, Mary Ella Pierpont, Amy E. Roberts, Wanda Robinson, Clifford M. Takemoto, Jacqueline A. Noonan - PEDIATRICS 2010 被引用: 619
- Distinct epigenetic programs regulate cardiac myocyte development and disease in the human heart in vivo
著者: Ralf Gilsbach, Martin Schwaderer, Sebastian Preißl, Björn Grüning, David Kranzhöfer, Pedro Schneider, Thomas 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 - Nature Communications 2018 被引用: 249
- MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus
著者: Peter de Blank, Andrea M. Gross, Srivandana Akshintala, Jaishri O. Blakeley, Gideon Bollag, Ashley Cannon, Eva Dombi, Jason Fangusaro, Bruce D. Gelb, Darren Hargrave, AeRang Kim, Laura J. Klesse, Mignon L. Loh, Staci Martin, Christopher L. Moertel, Roger J. Packer, Jonathan M. Payne, Katherine A. Rauen, Jonathan J. Rios, Nathan Robison, Elizabeth K. Schorry, Kevin Shannon, David A. Stevenson, Elliot Stieglitz, Nicole J. Ullrich, Karin S. Walsh, Brian Weiss, Pamela L. Wolters, Kaleb Yohay, Marielle E. Yohe, Brigitte C. Widemann, Michael J. Fisher - Neuro-Oncology 2022 被引用: 101
- PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity
著者: Marco Tartaglia, Kamini Kalidas, Adam Shaw, Xiaoling Song, Dan L. Musat, Ineke van der Burgt, Han G. Brunner, Débora Romeo Bertola, Andrew H. Crosby, Andra Ion, Raju Kucherlapati, Steve Jeffery, Michael A. Patton, Bruce D. Gelb - The American Journal of Human Genetics 2002 被引用: 797
