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

by Bruce D Gelb
Published 2016-09-01

The Phosphatase CSW Controls Life Span by Insulin Signaling and Metabolism Throughout Adult Life in Drosophila

by Leonardo R. Ruzzi, Pablo E. Schilman, Alvaro San Martin, Sergio E. Lew, Bruce D. Gelb, Bruce D. Gelb, Bruce D. Gelb, Mario R. Pagani
Published 2020-05-01

Fgfr3 is a transcriptional target of Ap2delta and Ash2l-containing histone methyltransferase complexes.

by Cheryl C Tan, Martin J Walsh, Bruce D Gelb
Published 2009-12-01

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

by Cigdem Sevim Bayrak, Peng Zhang, Martin Tristani-Firouzi, Bruce D. Gelb, Yuval Itan
Published 2020-01-01

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

by Timothy J Cashman, Rebecca Josowitz, Bryce V Johnson, Bruce D Gelb, Kevin D Costa
Published 2016-01-01

Drosophila RASopathy models identify disease subtype differences and biomarkers of drug efficacy

by Tirtha K. Das, Jared Gatto, Rupa Mirmira, Ethan Hourizadeh, Dalia Kaufman, Bruce D. Gelb, Ross Cagan
Published 2021-04-01

Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes

by 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
Published 2016-09-01

Identification and purification of human induced pluripotent stem cell-derived atrial-like cardiomyocytes based on sarcolipin expression.

by 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
Published 2014-01-01

“Is that something that should concern me?”: a qualitative exploration of parent understanding of their child’s genomic test results

by 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
Published 2021-04-01

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

by 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
Published 2018-01-01

The Congenital Heart Disease Genetic Network Study: Cohort description.

by 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
Published 2018-01-01

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

by 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
Published 2019-10-01

Loss of RNA expression and allele-specific expression associated with congenital heart disease

by 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
Published 2016-09-01

Identification of rare de novo epigenetic variations in congenital disorders

by 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
Published 2018-05-01

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

by 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
Published 2020-11-01

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

by Alexander Hsieh, Sarah U. Morton, Jon A. L. Willcox, Joshua M. Gorham, Angela C. Tai, Hongjian Qi, Steven DePalma, David McKean, Emily Griffin, Kathryn B. Manheimer, Daniel Bernstein, Richard W. Kim, Jane W. Newburger, George A. Porter, Deepak Srivastava, Martin Tristani-Firouzi, Martina Brueckner, Richard P. Lifton, Elizabeth Goldmuntz, Bruce D. Gelb, Wendy K. Chung, Christine E. Seidman, J. G. Seidman, Yufeng Shen
Published 2020-04-01

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

by James R Priest, Kazutoyo Osoegawa, Nebil Mohammed, Vivek Nanda, Ramendra Kundu, Kathleen Schultz, Edward J Lammer, Santhosh Girirajan, Todd Scheetz, Daryl Waggott, Francois Haddad, Sushma Reddy, Daniel Bernstein, Trudy Burns, Jeffrey D Steimle, Xinan H Yang, Ivan P Moskowitz, Matthew Hurles, Richard P Lifton, Debbie Nickerson, Michael Bamshad, Evan E Eichler, Seema Mital, Val Sheffield, Thomas Quertermous, Bruce D Gelb, Michael Portman, Euan A Ashley
Published 2016-04-01

Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia

by Sonia Mulero-Navarro, Ana Sevilla, Angel C. Roman, Dung-Fang Lee, Sunita L. D’Souza, Sherly Pardo, Ilan Riess, Jie Su, Ninette Cohen, Christoph Schaniel, Nelson A. Rodriguez, Alessia Baccarini, Brian D. Brown, Hélène Cavé, Aurélie Caye, Marion Strullu, Safak Yalcin, Christopher Y. Park, Perundurai S. Dhandapany, Ge Yongchao, Lisa Edelmann, Sawsan Bahieg, Patrick Raynal, Elisabetta Flex, Marco Tartaglia, Kateri A. Moore, Ihor R. Lemischka, Bruce D. Gelb
Published 2015-10-01

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

by Arun Sharma, Lauren K Wasson, Jon AL Willcox, Sarah U Morton, Joshua M Gorham, Daniel M DeLaughter, Meraj Neyazi, Manuel Schmid, Radhika Agarwal, Min Young Jang, Christopher N Toepfer, Tarsha Ward, Yuri Kim, Alexandre C Pereira, Steven R DePalma, Angela Tai, Seongwon Kim, David Conner, Daniel Bernstein, Bruce D Gelb, Wendy K Chung, Elizabeth Goldmuntz, George Porter, Martin Tristani-Firouzi, Deepak Srivastava, Jonathan G Seidman, Christine E Seidman, Pediatric Cardiac Genomics Consortium
Published 2020-10-01

Correction to: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

by Jacqueline A. Odgis, Katie M. Gallagher, Sabrina A. Suckiel, Katherine E. Donohue, Michelle A. Ramos, Nicole R. Kelly, Gabrielle Bertier, Christina Blackburn, Kaitlyn Brown, Lena Fielding, Jessenia Lopez, Karla Lopez Aguiniga, Estefany Maria, Jessica E. Rodriguez, Monisha Sebastin, Nehama Teitelman, Dana Watnick, Nicole M. Yelton, Avinash Abhyankar, Noura S. Abul-Husn, Aaron Baum, Laurie J. Bauman, Jules C. Beal, Toby Bloom, Charlotte Cunningham-Rundles, George A. Diaz, Siobhan Dolan, Bart S. Ferket, Vaidehi Jobanputra, Patricia Kovatch, Thomas V. McDonald, Patricia E. McGoldrick, Rosamond Rhodes, Michael L. Rinke, Mimsie Robinson, Arye Rubinstein, Lisa H. Shulman, Christian Stolte, Steven M. Wolf, Elissa Yozawitz, Randi E. Zinberg, John M. Greally, Bruce D. Gelb, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny
Published 2021-02-01