CMC Grants and Publications

Our Center’s team of experts is engaged in robust research activities and contributes publications on a range of topics to a variety of journals and publications.

Research Groups

Our investigators are conducting a number of important research projects striving to make significant strides in the diagnosis and treatment of pediatric health issues.

Within the Gelb Research Group our investigators explore cardiac conditions and diseases under agency grants.

Noonan Syndrome
Study Title: Molecular basis of Noonan syndrome and related disorders
Principal Investigator: Bruce D. Gelb, MD  

Agencies: NIH/NHLBI
Type: R01 (HL071207)
Period: 07/01/02 – 01/31/13

Pediatric Cardiac Disorders
Study Title: Human induced pluripotent cell models of pediatric cardiac disorders
Principal Investigators: Bruce D. Gelb, MD and Ihor Lemischka, PhD

Agencies: NIH/NHLBI 
Type: R01 (HL113499)  
Period: 07/01/13 - 06/30/17
and 
Type: Diversity Supplement (Dr. Gelb as solo PI)
Period: 12/01/13-06/30/17 

Training program in molecular and cellular cardiology 
Program Purpose: Developing the next generation of molecular and cellular biologists
Principal Investigators: Bruce D. Gelb, MD and Roger Hajjar, MD

Agencies: NIH/NHLBI 
Type: T32 (HL007824)  
Period: 07/01/95 – 6/30/18

Conotruncal defects and outcomes
Study Title: Genetics of conotruncal defects and associated neurodevelopmentaloutcomes
Principal Investigator: Bruce D. Gelb, MD  

Agencies: NIH/NHLBI 
Type: UM1 subcontract (HL098123) 
Period: 09/01/09 - 08/31/20
and
Additional Sponsors: Administrative Coordinating Centers 
Type: UM1 (HL098123)  
Period: 09/01/15 - 08/31/16

Disease Platform
Project Scope: A new disease platform leveraging complex Drosophila and mammalian models

Agency: NIH OD 
Type: U54 (OD020353) 
Principal Investigator: Ross L. Cagan, PhD 
Roles: Project Director (Project 3); Co-Investigator (Project 1)
Period: 08/01/15-07/31/20

Early Environmental Exposures
Facility: The Mount Sinai Transdisciplinary Center on early environmental exposures
Principal Investigator: Robert O. Wright, MD, MPH 

Agency: NIH OD 
Type: P30 (ES023515) 
Period: 06/18/14-01/31/18

The Cai Research Group studies cardiac issues under several different grants.

Tbx20
Study Title: Genetic and molecular investigation of Tbx20 in cardiac development
Principal Investigator: Chenleng Cai, PhD

Agency: NIH/NHLBI 
Type: R01 (HL095810-01)  
Period: 3/1/2010-2/29/2016

Wnt Signaling
Study Title: Tbx1 and canonical Wnt signaling in the second heart field 
Principal Investigator: Chenleng Cai, PhD

Agency: NIH/NHLBI
Type: R56 (HL129807)
Period: 7/1/2015-6/30/2018

Progenitor Cell Development
Study Title: Isl1 transcriptional program in SHF cardiac progenitor cell development
Principal Investigator: Chenleng Cai, PhD

Agency: American Heart Association 
Type: Grant-in-Aid
Period: 7/1/2015-6/30/2018

The Zhao Research Group is engaged in the following studies.

miR-1s
Study Title: Understanding the roles of miR-1s in regulating heart development
Principal Investigator: Yong Zhao, MD, PhD

Agency: NIH/NHLBI
Type: K02 (HL103597)
Period: 6/16/2011 – 5/31/2016

Cardiac Conduction System
Study Title: miR1-2 function in cardiac conduction system development and maintenance
Principal Investigator: Yong Zhao, MD, PhD

Agency: NIH/NHLBI
Type: R01 (HL107376)
Period: 5/2/2011 – 4/30/2016

The Dubois Research Group researches cardiac development and disease.

Cardiac Function in Duchenne Muscular Dystrophy
Scope: Exploring pathophysiology and therapy strategies of Duchenne Muscular Dystrophy cardiac dysfunction in human iPSC-derived engineered heart tissue
Principal Investigator: Nicole Dubois, PhD

Agency: NYSTEM
Type: IDEA 
Period: 6/1/2104-5/30/2016

Cardiac dysfunction in Duchenne Muscular Dystrophy
Scope: Investigating cardiac dysfunction in Duchenne Muscular Dystrophy using compound screening
Principal Investigator: Nicole Dubois, PhD

Agency: Mindich Child Health and Development Institute
Type: Pilot Award 
Period: 1/1/2015 – 12/31/2015

Pediatric Cardiac Disorders
Study Title: Human induced pluripotent stem cell models of pediatric cardiac disorders
Principal Investigator: Bruce D. Gelb, MD

Agency: NIH/NHLBI
Type: R01 (HL113499)
Period: 8/1/2014 – 7/31/2019

Recognition

Members of our team have been recognized by several notable organizations, including:

Bruce D. Gelb, MD
New York Magazine, “Best Doctors” (2010-2013, 2015)
Election to the National Academies' Institute of Medicine (2010)
American Pediatric Society, Norman J. Siegel New Member Outstanding Science Award (2008)
Society for Pediatric Research, E. Mead Johnson Award (2004)

Yong Zhao, MD, PhD
American Heart Association, Marmer Research Fellow (2010-2011)
Society for Pediatric Research, Richard D. Rowe Award in Perinatal Cardiology (2006)

Chenleng Cai, PhD
Schuman Award, University of California, San Diego (2004)

Publications

Our faculty members have also been widely published in peer-reviewed journals. Names of our team members have been bolded in citations. 

Mulero-Navarro S, Sevilla A, Roman AC, Lee DF, D'Souza SL, Pardo S, Riess I, Su J, Cohen N, Schaniel C, Rodriguez NA, Baccarini A, Brown BD, Cavé H, Caye A, Strullu M, Yalcin S, Park CY, Dhandapany PS, Yongchao G, Edelmann L, Bahieg S, Raynal P, Flex E, Tartaglia M, Moore KA, Lemischka IR, Gelb BD. Myeloid dysregulation in a human induced pluripotent stem cell model of PTPN11-associated juvenile myelomonocytic leukemia. Cell Rep 2015, 13:504-515.

Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Chih Hin S, Deanfield J, Giardini A, Porter GA Jr, Kim R, Bilguvar K, Lopez-Giraldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi Hongjian, Vardarajan B, Ma Lijiang, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, *Brueckner M, *Gelb BD, *Goldmuntz E, *Lifton RP, *Seidman CE, *Chung WK. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science 2015, 350:1262-1266. * equal contribution.

Cordeddu V,Yin JC, Gunnarsson C, Virtanen C, Drunat S, Lepri F, De Luca A, Rossi C, Ciolfi A, Pugh TJ, Bruselles A, Priest JR, Pennacchio LA, Lu Z, Danesh A, Quevedo R, Hamid A, Martinelli S, Pantaleoni F, Gnazzo M, Daniele P, Lissewski C, Bocchinfuso G, Stella L, Odent S, Philip N, Faivre L, Vlckova M, Seemanova E, Digilio C, Zenker M, Zampino G, Verloes A, Dallapiccola B, *Roberts AE, *Cavé H, *Gelb BD, *Neel BG, *Tartaglia M. Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome. Hum Mut 2015, 36:1080-1087. * equal contribution.

Gelb BD. The history of our understanding of the etiology of congenital heart disease. Circ Cardiovasc Genet 2015, 8:529-36.

Lacro RV, Dietz HC, Sleeper LA, Yetman AT, Bradley TJ, Colan SD, Pearson GD, Tierney ES, Levine JC, Atz AM, Benson DW, Braverman AC, Chen S, De Backer J, Gelb BD, Grossfeld PD, Klein GL, Lai WW, Liou A, Loeys BL, Markham LW, Olson AK, Paridon SM, Pemberton VL, Pierpont ME, Pyeritz RE, Radojewski E, Roman MJ, Sharkey AM, Stylianou MP, Wechsler SB, Young LT, Mahony L; the Pediatric Heart Network Investigators. Atenolol versus losartan in children and young adults with Marfan’s syndrome. N Engl J Med 2014, 371:2061-2071.

Glessner J, Bick AG, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaika EJ, Vardarajan B, Italia MJ, Leipzig J, DePalma S, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman JG, Hakonarson H, Chung WK. Increased frequency of de novo copy number variations in congenital heart disease by integrative analysis of SNP array and exome sequence data. Circ Res 2014, 115:884-896.

Dhandapany PS, Razzaque MA, Muthusami U, Kunnoth S, Edwards JJ, Mulero-Navarro S, Riess I, Pardo S, Sheng J, Rani DS, Rani B, Govindaraj P, Flex E, Yokota T, Furutani M, Nishizawa T, Nakanishi T, Robbins J, Limongelli G, Hajjar RJ, Lebeche D, Bahl A, Khullar M, Rathinavel A, Sadler KC, Tartaglia M, Matsuoka R, Thangaraj K*, Gelb BD*. RAF1 mutations in childhood-onset dilated cardiomyopathy. Nat Genet 2014, 46:635-639. * co-senior authorship. PMCID: PMC4049514

Josowitz R, Lu J, Falce C, D’Souza SL, Wu M, Cohen N, Dubois NC, Zhao Y, Sobie EA, Fishman GI, Gelb BD. Identification and purification of human induced pluripotent stem cell-derived atrial-like cardiomyocytes based on sarcolipin expression. PLOS ONE 2014, 9:e101316.

Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia M, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leigzig J, Lopez A, Mane SM, Mitchell LE, Newburger JW, Parfenov M, Pe’er I, Porter G, Roberts A, Sachidanandam R, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao H, Seidman JG, Brueckner M,* Chung WK,* Gelb BD,* Goldmuntz E,* Seidman CE,* Lifton RP.* Increased frequency of de novo mutations in histone modifying genes in congenital heart disease. Nature 2013, 498:220-223. * co-senior authorship.

Carey AS, Liang L, Edwards J, Brandt T, Mei H, Sharp AJ, Hsu DT, Newburger JW, Ohye RG, Chung WK, Russell MW, Rosenfeld JA, Shaffer LG, Parides MK, Edelmann LJ, Gelb BD. The impact of CNVs on clinical outcomes for infants with single ventricle heart defects. Circulation Cardiovasc Genet 2013, 6:444-451.

Sultana N, Zhang L, Yan J, Chen J, Cai W, Razzaque S, Jeong D, Sheng W, Bu L, Xu M, Huang GY, Hajjar RJ, Zhou B, Moon A, Cai CL. Resident c-kit(+) cells in the heart are not cardiac stem cells. Nature Communications 2015, 6:8701.

Yan J, Sultana N, Zhang L, Park DS, Shekhar A, Hu J, Bu L, Cai CL, Generation of a tamoxifen inducible Tnnt2:MerCreMer knock-in mouse model for cardiac studies. Genesis 2015, 53(6):377-86.

Shamis Y, Cullen DE, Liu L, Yang G, Ng SF, Xiao L, Bell FT, Ray C, Takikawa S, Moskowitz IP, Cai CL, Yang X, Li X, Maternal and zygotic Zfp57 modulate NOTCH signaling in cardiac development. Proc Natl Acad Sci U S A. 2015, 112(16):E2020-9.

Zhang L, Nomura-Kitabayashi A, Sultana N, Cai W, Cai X, Moon AM,Cai CL, Mesodermal Nkx2.5 is necessary and sufficient for early second heart field development. Dev Biol 2014, 390(1):68-79.

Cai X, Zhang W, Hu J, Zhang L, Sultana N, Wu B, Cai W, Zhou B, Cai CL, Tbx20 acts upstream of Wnt signaling to regulate endocardial cushion formation and valve remodeling during mouse cardiogenesis. Development 2013, 140(15):3176-87.

Grisanti L, Clavel C, Cai X, Rezza A, Tsai SY, Sennett R, Mumau M, Cai CL*, Rendl M*. Tbx18 targets dermal condensates for labeling, isolation, and gene ablation during embryonic hair follicle formation. J Invest Dermatol 2013, 133(2):344-53. * co-corresponding authors.

Clavel C, Grisanti L, Zemla R, Rezza A, Barros R, Sennett R, Mazloom AR, Chung CY, Cai X, Cai CL, Pevny L, Nicolis S, Ma'ayan A, Rendl M. Sox2 in the dermal papilla niche controls hair growth by fine-tuning BMP signaling in differentiating hair shaft progenitors. Dev Cell 2012, 23(5):981-94.

Cai X, Nomura-Kitabayashi A, Cai W, Yan J, Christoffels VM, Cai CL. Myocardial Tbx20 regulates early atrioventricular canal formation and endocardial epithelial-mesenchymal transition via Bmp2. Dev Biol 2011, 360(2):381-90.

Cai CL, Martin JC, Sun Y, Cui L, Wang L, Ouyang K, Yang L, Bu L, Liang X, Zhang X, Stallcup WB, Denton CP, McCulloch A, Chen J, Evans SM. A myocardial lineage derives from Tbx18 epicardial cells. Nature 2008, 454(7200):104-8.

Cai CL, Liang X, Shi Y, Chu PH, Pfaff SL, Chen J, Evans S. Isl1 identifies a cardiac progenitor population that proliferates prior to differentiation and contributes a majority of cells to the heart. Dev Cell 2003, 5(6):877-89. 

Agudo J, Ruzo A, Park ES, Sweeney R, Kana V, Wu M, Zhao Y, Egli D, Merad M, Brown BD. GFP-specific CD8 T cells enable targeted cell depletion and visualization of T-cell interactions. Nat Biotechnol 2015, 33(12):1287-1292.

Long Q, Argmann C, Houten SM, Huang T, Peng S, Zhao Y, Tu Z; GTEx Consortium, Zhu J. Inter-tissue coexpression network analysis reveals DPP4 as an important gene in heart to blood communication. Genome Medicine 2016, 8(1):15

Wu M, Peng S, Yang J, Tu Z, Cai X, Cai CL, Wang Z, Zhao Y. Baf250a orchestrates an epigenetic pathway to repress the Nkx2.5-directed contractile cardiomyocyte program in the sinoatrial node. Cell Research 2014, 24(10): 1201-13.

Josowitz R, Lu J, Falce C, D'Souza SL, Wu M, Cohen N, Dubois NC, Zhao Y, Sobie EA, Fishman GI, Gelb BD. Identification and purification of human induced pluripotent stem cell-derived atrial-like cardiomyocytes based on sarcolipin expression. PloS One 2014, 9(7).

Wei Y, Peng S, Wu M, Sachidanandam R, Tu Z, Zhang S, Falce C, Sobie EA, Lebeche D, Zhao Y. Multifaceted roles of miR-1s in repressing the fetal gene program in the heart. Cell Research 2014, 24(3):278-92

Wu M, Peng S, Zhao Y, Inducible gene deletion in the entire cardiac conduction system using Hcn4-CreERT2 BAC transgenic mice. Genesis 2014, 52(2): 134-40.

Zhao Y, Ransom Jf, Li A, Vedantham V, von Drehle M, Muth An, Tsuchihashi T, McManus Mt, Schwartz Rj, Srivastava D. Dysregulation of cardiogenesis, cardiac conduction, and cell cycle in mice lacking miRNA-1-2. Cell 2007, 129(2):303-17.

Zhao Y, Samal E, Srivastava D. Serum response factor regulates a muscle-specific microRNA that targets Hand2 during cardiogenesis. Nature 2005, 436(7048):214-20.

Zhao Y, Meng Xm, Wei Yj, Zhao Xw, Liu Dq, Cao Hq, Liew Cc, Ding Jf. Cloning and characterization of a novel cardiac-specific kinase that interacts specifically with cardiac troponin I. J Mol Med 2003, 81(5):297-304.

Zhao Y, Wei Yj, Cao Hq, Ding Jf, Liu Dq, Cao Hq, Liew Cc, Ding Jf. Molecular Cloning of NELIN, a Putative Human Cytoskeleton Regulation Gene. Acta Biochimica et Biophysica Sina 2001, 33(1):19-24. 

Dubois NC, Adolphe C, Ehninger A, Wang RA, Robertson EJ, Trumpp A. Placental rescue reveals a sole requirement for c-Myc in embryonic erythroblast survival and hematopoietic stem cell function. Development 2008, 135(14):2455-65.

Dubois NC, Hofmann D, Kaloulis K, Bishop JM, Trumpp A. Nestin-Cre transgenic mouse line Nes-Cre1 mediates highly efficient Cre/loxP mediated recombination in the nervous system, kidney, and somite-derived tissues. Genesis 2006, 44(8):355-60

Bettess MD, Dubois N, Murphy MJ, Dubey C, Roger C, Robine S, Trumpp A. c-Myc is required for the formation of intestinal crypts but dispensable for homeostasis of the adult intestinal epithelium. Mol Cell Biol 2005, 25(17):7868-78.

Dubois NC, Craft AM, Sharma P, Elliott DA, Stanley EG, Elefanty AG, Gramolini A, Keller G. SIRPA is a specific cell-surface marker for isolating cardiomyocytes derived from human pluripotent stem cells. Nat Biotechnol 2011, 29(11):1011-8.

Kattman SJ, Witty AD, Gagliardi M, Dubois NC, Niapour M, Hotta A, Ellis J, Keller G. Stage-specific optimization of activin/nodal and BMP signaling promotes cardiac differentiation of mouse and human pluripotent stem cells. Cell Stem Cell 2011, 8(2):228-40.

El-Mounayri O, Mihic A, Shikatani EA, Gagliardi M, Steinbach SK, Dubois N, Dacosta R, Li RK, Keller G, Husain M. Serum-free differentiation of functional human coronary-like vascular smooth muscle cells from embryonic stem cells. Cardiovasc Res 2013, 98(1):125-35. doi: 10.1093

Dubois NC, Craft AM, Sharma P, Elliott DA, Stanley EG, Elefanty AG, Gramolini A, Keller G. SIRPA is a specific cell-surface marker for isolating cardiomyocytes derived from human pluripotent stem cells. Nat Biotechnol 2011, 29(11):1011-8.

Kattman SJ, Witty AD, Gagliardi M, Dubois NC, Niapour M, Hotta A, Ellis J, Keller G. Stage-specific optimization of activin/nodal and BMP signaling promotes cardiac differentiation of mouse and human pluripotent stem cells. Cell Stem Cell 2011, Feb 4;8(2):228-40.

El-Mounayri O, Mihic A, Shikatani EA, Gagliardi M, Steinbach SK, Dubois N, Dacosta R, Li RK, Keller G, Husain M. Serum-free differentiation of functional human coronary-like vascular smooth muscle cells from embryonic stem cells. Cardiovasc Res 2013, 98(1):125-35.

Josowitz R, Lu J, Falce C, D'Souza SL, Wu M, Cohen N, Dubois NC, Zhao Y, Sobie EA, Fishman GI, Gelb BD. Identification and purification of human induced pluripotent stem cell-derived atrial-like cardiomyocytes based on sarcolipin expression. PLoS One 2014, 9(7):e101316. 

Recognition

Members of our team have been recognized by several notable organizations, including:

New York Magazine, “Best Doctors” (2010-2013, 2015-2016)
Election to the National Academies' Institute of Medicine (2010)
American Pediatric Society, Norman J. Siegel New Member Outstanding Science Award (2008)
Society for Pediatric Research, E. Mead Johnson Award (2004)

American Heart Association, Marmer Research Fellow (2010-2011)
Society for Pediatric Research, Richard D. Rowe Award in Perinatal Cardiology (2006)

Schuman Award, University of California, San Diego (2004)