Bruce D. Gelb
Icahn School of Medicine at Mount Sinai
27 Papers
49 Citations
Bruce D. Gelb is an academic researcher from Icahn School of Medicine at Mount Sinai. The author has contributed to research in topics: Biology & DNA methylation. The author has an hindex of 8, co-authored 27 publications.
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Papers
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Sheng Chih Jin,Jason Homsy,Samir Zaidi,Qiongshi Lu,Sarah U. Morton,Steven R. DePalma,Xue Zeng,Hongjian Qi,Weni Chang,Michael C. Sierant,Wei Chien Hung,Shozeb Haider,Junhui Zhang,James R. Knight,Robert D. Bjornson,Christopher Castaldi,Irina R. Tikhonoa,Kaya Bilguvar,Shrikant Mane,Stephen Sanders,Seema Mital,Mark W. Russell,J. William Gaynor,John E. Deanfield,Alessandro Giardini,George A. Porter,Deepak Srivastava,Cecelia W. Lo,Yufeng Shen,W. Scott Watkins,Mark Yandell,H. Joseph Yost,Martin Tristani-Firouzi,Jane W. Newburger,Amy E. Roberts,Richard B. Kim,Hongyu Zhao,Jonathan R. Kaltman,Elizabeth Goldmuntz,Wendy K. Chung,Jonathan G. Seidman,Bruce D. Gelb,Christine E. Seidman,Richard P. Lifton,Richard P. Lifton,Martina Brueckner +45 more
TL;DR: Exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent–offspring trios, implicated rare inherited mutations in 1.8%, and DNMs in ∼440 genes were inferred to contribute to CHD.
Distinct epigenetic programs regulate cardiac myocyte development and disease in the human heart in vivo
Ralf Gilsbach,Martin Schwaderer,Sebastian Preissl,Björn Grüning,David Kranzhoefer,Pedro Schneider,Thomas G Nuehrenberg,Sonia Mulero-Navarro,Dieter Weichenhan,Christian Braun,M. Dreßen,Adam Jacobs,Harald Lahm,Torsten Doenst,Rolf Backofen,Markus Krane,Bruce D. Gelb,Lutz Hein +17 more
TL;DR: This study uncovers distinct layers of epigenetic regulation not only during prenatal development and postnatal maturation but also in diseased human cardiac myocytes.
The Congenital Heart Disease Genetic Network Study: Cohort description
Thanh T. Hoang,Elizabeth Goldmuntz,Amy E. Roberts,Wendy K. Chung,Jennie Kline,John E. Deanfield,John E. Deanfield,Alessandro Giardini,Adolfo Aleman,Bruce D. Gelb,Meghan K Mac Neal,George A. Porter,Richard B. Kim,Martina Brueckner,Richard P. Lifton,Sharon Edman,Stacy Woyciechowski,Laura E. Mitchell,A. J. Agopian +18 more
TL;DR: The PCGC cohort is one of the largest CHD cohorts available for the study of genetic determinants of risk and outcomes and provides a reference work for investigators who are interested in collaborating with or using publically available resources from the PCGC.
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.
Léa Linglart,Bruce D. Gelb +1 more
TL;DR: Genotype–phenotype associations for Noonan syndrome enable better prognostication for affected patients when a molecular diagnosis is established, and newly developed anticancer RAS pathway inhibitors could fill that gap if safety and efficacy can be established for indications such as pulmonary valve stenosis.
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Myopathic Cardiac Genotypes Increase Risk for Myocarditis.
Amy R 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 +11 more
TL;DR: In this article, the authors performed genomic sequencing in predominantly adult patients with acute myocarditis and matched control subjects and found deleterious variants in a broad set of cardiac genes were found in 19 of 117 cases vs 34 of 468 control subjects.
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