Bruce D. Gelb - Publications

Affiliations: 
Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai, New York, NY, United States 
Area:
Genetics, Biochemistry, Human Development, Cell Biology

54 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2017 Belkaya S, Kontorovich AR, Byun M, Mulero-Navarro S, Bajolle F, Cobat A, Josowitz R, Itan Y, Quint R, Lorenzo L, Boucherit S, Stoven C, Di Filippo S, Abel L, Zhang SY, ... ... Gelb BD, et al. Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis. Journal of the American College of Cardiology. 69: 1653-1665. PMID 28359509 DOI: 10.1016/j.jacc.2017.01.043  0.56
2016 McKean DM, Homsy J, Wakimoto H, Patel N, Gorham J, DePalma SR, Ware JS, Zaidi S, Ma W, Patel N, Lifton RP, Chung WK, Kim R, Shen Y, Brueckner M, ... ... Gelb BD, et al. Loss of RNA expression and allele-specific expression associated with congenital heart disease. Nature Communications. 7: 12824. PMID 27670201 DOI: 10.1038/ncomms12824  0.32
2016 Josowitz R, Mulero-Navarro S, Rodriguez NA, Falce C, Cohen N, Ullian EM, Weiss LA, Rauen KA, Sobie EA, Gelb BD. Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes. Stem Cell Reports. PMID 27569062 DOI: 10.1016/j.stemcr.2016.07.018  0.56
2016 Stevenson DA, Schill L, Schoyer L, Andresen BS, Bakker A, Bayrak-Toydemir P, Burkitt-Wright E, Chatfield K, Elefteriou F, Elgersma Y, Fisher MJ, Franz D, Gelb BD, Goriely A, Gripp KW, et al. The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway. American Journal of Medical Genetics. Part A. PMID 27155140 DOI: 10.1002/ajmg.a.37723  0.32
2016 Cashman TJ, Josowitz R, Gelb BD, Li RA, Dubois NC, Costa KD. Construction of Defined Human Engineered Cardiac Tissues to Study Mechanisms of Cardiac Cell Therapy. Journal of Visualized Experiments : Jove. PMID 26967678 DOI: 10.3791/53447  0.56
2016 Cashman TJ, Josowitz R, Johnson BV, Gelb BD, Costa KD. Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy. Plos One. 11: e0146697. PMID 26784941 DOI: 10.1371/journal.pone.0146697  0.56
2015 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, ... ... Gelb BD, et al. Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia. Cell Reports. 13: 504-515. PMID 26456833 DOI: 10.1016/j.celrep.2015.09.019  0.32
2015 Gelb BD, Roberts AE, Tartaglia M. Cardiomyopathies in Noonan syndrome and the other RASopathies. Progress in Pediatric Cardiology. 39: 13-19. PMID 26380542 DOI: 10.1016/j.ppedcard.2015.01.002  0.32
2015 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, ... ... Gelb BD, et al. Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome. Human Mutation. PMID 26173643 DOI: 10.1002/humu.22834  0.32
2015 Martinelli S, Stellacci E, Pannone L, D'Agostino D, Consoli F, Lissewski C, Silvano M, Cencelli G, Lepri F, Maitz S, Pauli S, Rauch A, Zampino G, Selicorni A, Melançon S, ... ... Gelb BD, et al. Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations. Human Mutation. 36: 787-96. PMID 25952305 DOI: 10.1002/humu.22809  0.32
2015 Korf B, Ahmadian R, Allanson J, Aoki Y, Bakker A, Wright EB, Denger B, Elgersma Y, Gelb BD, Gripp KW, Kerr B, Kontaridis M, Lazaro C, Linardic C, Lozano R, et al. The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach. American Journal of Medical Genetics. Part A. PMID 25900621 DOI: 10.1002/ajmg.a.37089  0.32
2015 Quintero-Rivera F, Xi QJ, Keppler-Noreuil KM, Lee JH, Higgins AW, Anchan RM, Roberts AE, Seong IS, Fan X, Lage K, Lu LY, Tao J, Hu X, Berezney R, Gelb BD, et al. MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. Human Molecular Genetics. 24: 2375-89. PMID 25574029 DOI: 10.1093/hmg/ddv004  0.32
2015 Bock MJ, Nguyen K, Malerba S, Harrison K, Bagiella E, Gelb BD, Pinney SP, Lytrivi ID. Pediatric cardiac retransplantation: Waitlist mortality stratified by age and era. The Journal of Heart and Lung Transplantation : the Official Publication of the International Society For Heart Transplantation. 34: 530-7. PMID 25016920 DOI: 10.1016/j.healun.2014.05.014  0.32
2014 Lacro RV, Dietz HC, Sleeper LA, Yetman AT, Bradley TJ, Colan SD, Pearson GD, Selamet Tierney ES, Levine JC, Atz AM, Benson DW, Braverman AC, Chen S, De Backer J, Gelb BD, et al. Atenolol versus losartan in children and young adults with Marfan's syndrome. The New England Journal of Medicine. 371: 2061-71. PMID 25405392 DOI: 10.1056/NEJMoa1404731  0.32
2014 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. 9: e101316. PMID 25010565 DOI: 10.1371/journal.pone.0101316  0.32
2014 Gelb BD, Chung WK. Complex genetics and the etiology of human congenital heart disease. Cold Spring Harbor Perspectives in Medicine. 4: a013953. PMID 24985128 DOI: 10.1101/cshperspect.a013953  0.32
2014 Burns KM, Byrne BJ, Gelb BD, Kühn B, Leinwand LA, Mital S, Pearson GD, Rodefeld M, Rossano JW, Stauffer BL, Taylor MD, Towbin JA, Redington AN. New mechanistic and therapeutic targets for pediatric heart failure: report from a National Heart, Lung, and Blood Institute working group. Circulation. 130: 79-86. PMID 24982119 DOI: 10.1161/CIRCULATIONAHA.113.007980  0.32
2014 Edwards JJ, Martinelli S, Pannone L, Lo IF, Shi L, Edelmann L, Tartaglia M, Luk HM, Gelb BD. A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. American Journal of Medical Genetics. Part A. 164: 2351-5. PMID 24891296 DOI: 10.1002/ajmg.a.36620  0.32
2014 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, ... ... Gelb BD, et al. RAF1 mutations in childhood-onset dilated cardiomyopathy. Nature Genetics. 46: 635-9. PMID 24777450 DOI: 10.1038/ng.2963  0.32
2014 Flex E, Jaiswal M, Pantaleoni F, Martinelli S, Strullu M, Fansa EK, Caye A, De Luca A, Lepri F, Dvorsky R, Pannone L, Paolacci S, Zhang SC, Fodale V, Bocchinfuso G, ... ... Gelb BD, et al. Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. Human Molecular Genetics. 23: 4315-27. PMID 24705357 DOI: 10.1093/hmg/ddu148  0.32
2013 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 L, ... Gelb BD, et al. Effect of copy number variants on outcomes for infants with single ventricle heart defects. Circulation. Cardiovascular Genetics. 6: 444-51. PMID 24021551 DOI: 10.1161/CIRCGENETICS.113.000189  0.32
2013 Yoon SR, Choi SK, Eboreime J, Gelb BD, Calabrese P, Arnheim N. Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. American Journal of Human Genetics. 92: 917-26. PMID 23726368 DOI: 10.1016/j.ajhg.2013.05.001  0.32
2013 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, ... ... Gelb BD, et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 498: 220-3. PMID 23665959 DOI: 10.1038/nature12141  0.32
2013 Lacro RV, Guey LT, Dietz HC, Pearson GD, Yetman AT, Gelb BD, Loeys BL, Benson DW, Bradley TJ, De Backer J, Forbus GA, Klein GL, Lai WW, Levine JC, Lewin MB, et al. Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy. American Heart Journal. 165: 828-835.e3. PMID 23622922 DOI: 10.1016/j.ahj.2013.02.019  0.32
2013 Lawrence EJ, Nguyen K, Morris SA, Hollinger I, Graham DA, Jenkins KJ, Bodian C, Lin HM, Gelb BD, Mittnacht AJ. Economic and safety implications of introducing fast tracking in congenital heart surgery. Circulation. Cardiovascular Quality and Outcomes. 6: 201-7. PMID 23443672 DOI: 10.1161/CIRCOUTCOMES.111.000066  0.32
2013 Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Noonan syndrome. Lancet (London, England). 381: 333-42. PMID 23312968 DOI: 10.1016/S0140-6736(12)61023-X  0.32
2012 Lee DF, Su J, Ang YS, Carvajal-Vergara X, Mulero-Navarro S, Pereira CF, Gingold J, Wang HL, Zhao R, Sevilla A, Darr H, Williamson AJ, Chang B, Niu X, Aguilo F, ... ... Gelb BD, et al. Regulation of embryonic and induced pluripotency by aurora kinase-p53 signaling. Cell Stem Cell. 11: 179-94. PMID 22862944 DOI: 10.1016/j.stem.2012.05.020  0.32
2012 Martinelli S, Nardozza AP, Delle Vigne S, Sabetta G, Torreri P, Bocchinfuso G, Flex E, Venanzi S, Palleschi A, Gelb BD, Cesareni G, Stella L, Castagnoli L, Tartaglia M. Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome. The Journal of Biological Chemistry. 287: 27066-77. PMID 22711529 DOI: 10.1074/jbc.M112.350231  0.32
2012 Sala V, Gallo S, Leo C, Gatti S, Gelb BD, Crepaldi T. Signaling to cardiac hypertrophy: insights from human and mouse RASopathies. Molecular Medicine (Cambridge, Mass.). 18: 938-47. PMID 22576369 DOI: 10.2119/molmed.2011.00512  0.32
2012 Sun J, Sukhova GK, Zhang J, Chen H, Sjöberg S, Libby P, Xia M, Xiong N, Gelb BD, Shi GP. Cathepsin K deficiency reduces elastase perfusion-induced abdominal aortic aneurysms in mice. Arteriosclerosis, Thrombosis, and Vascular Biology. 32: 15-23. PMID 21817099 DOI: 10.1161/ATVBAHA.111.235002  0.32
2011 Josowitz R, Carvajal-Vergara X, Lemischka IR, Gelb BD. Induced pluripotent stem cell-derived cardiomyocytes as models for genetic cardiovascular disorders. Current Opinion in Cardiology. 26: 223-9. PMID 21451408 DOI: 10.1097/HCO.0b013e32834598ad  0.32
2011 Lepri F, De Luca A, Stella L, Rossi C, Baldassarre G, Pantaleoni F, Cordeddu V, Williams BJ, Dentici ML, Caputo V, Venanzi S, Bonaguro M, Kavamura I, Faienza MF, Pilotta A, ... ... Gelb BD, et al. SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. Human Mutation. 32: 760-72. PMID 21387466 DOI: 10.1002/humu.21492  0.32
2010 Au AC, Hernandez PA, Lieber E, Nadroo AM, Shen YM, Kelley KA, Gelb BD, Diaz GA. Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans. American Journal of Human Genetics. 87: 436-44. PMID 20826270 DOI: 10.1016/j.ajhg.2010.08.008  0.32
2010 Carvajal-Vergara X, Sevilla A, D'Souza SL, Ang YS, Schaniel C, Lee DF, Yang L, Kaplan AD, Adler ED, Rozov R, Ge Y, Cohen N, Edelmann LJ, Chang B, Waghray A, ... ... Gelb BD, et al. Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. Nature. 465: 808-12. PMID 20535210 DOI: 10.1038/nature09005  0.32
2010 Stoller JZ, Huang L, Tan CC, Huang F, Zhou DD, Yang J, Gelb BD, Epstein JA. Ash2l interacts with Tbx1 and is required during early embryogenesis. Experimental Biology and Medicine (Maywood, N.J.). 235: 569-76. PMID 20463296 DOI: 10.1258/ebm.2010.009318  0.32
2010 Bauer RC, Laney AO, Smith R, Gerfen J, Morrissette JJ, Woyciechowski S, Garbarini J, Loomes KM, Krantz ID, Urban Z, Gelb BD, Goldmuntz E, Spinner NB. Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. Human Mutation. 31: 594-601. PMID 20437614 DOI: 10.1002/humu.21231  0.32
2010 Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, Neri G, Carey JC, Legius E, Tartaglia M, Schubbert S, Roberts AE, Gelb BD, Shannon K, et al. Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. American Journal of Medical Genetics. Part A. 152: 4-24. PMID 20014119 DOI: 10.1002/ajmg.a.33183  0.32
2010 Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, König R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, ... ... Gelb BD, et al. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nature Genetics. 42: 27-9. PMID 19966803 DOI: 10.1038/ng.497  0.32
2009 Tan CC, Walsh MJ, Gelb BD. Fgfr3 is a transcriptional target of Ap2delta and Ash2l-containing histone methyltransferase complexes. Plos One. 4: e8535. PMID 20046871 DOI: 10.1371/journal.pone.0008535  0.32
2009 Pagani MR, Oishi K, Gelb BD, Zhong Y. The phosphatase SHP2 regulates the spacing effect for long-term memory induction. Cell. 139: 186-98. PMID 19804763 DOI: 10.1016/j.cell.2009.08.033  0.32
2009 Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, ... ... Gelb BD, et al. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nature Genetics. 41: 1022-6. PMID 19684605 DOI: 10.1038/ng.425  0.32
2009 Oishi K, Zhang H, Gault WJ, Wang CJ, Tan CC, Kim IK, Ying H, Rahman T, Pica N, Tartaglia M, Mlodzik M, Gelb BD. Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. Human Molecular Genetics. 18: 193-201. PMID 18849586 DOI: 10.1093/hmg/ddn336  0.32
2008 Martinelli S, Torreri P, Tinti M, Stella L, Bocchinfuso G, Flex E, Grottesi A, Ceccarini M, Palleschi A, Cesareni G, Castagnoli L, Petrucci TC, Gelb BD, Tartaglia M. Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. Human Molecular Genetics. 17: 2018-29. PMID 18372317 DOI: 10.1093/hmg/ddn099  0.32
2007 Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, ... ... Gelb BD, et al. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nature Genetics. 39: 1007-12. PMID 17603483 DOI: 10.1038/ng2073  0.32
2007 Pierpont ME, Basson CT, Benson DW, Gelb BD, Giglia TM, Goldmuntz E, McGee G, Sable CA, Srivastava D, Webb CL. Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation. 115: 3015-38. PMID 17519398 DOI: 10.1161/CIRCULATIONAHA.106.183056  0.32
2007 Xue J, Zhou D, Yao H, Gavrialov O, McConnell MJ, Gelb BD, Haddad GG. Novel functional interaction between Na+/H+ exchanger 1 and tyrosine phosphatase SHP-2. American Journal of Physiology. Regulatory, Integrative and Comparative Physiology. 292: R2406-16. PMID 17289818 DOI: 10.1152/ajpregu.00859.2006  0.32
2007 Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, ... ... Gelb BD, et al. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nature Genetics. 39: 75-9. PMID 17143282 DOI: 10.1038/ng1939  0.32
2006 Ramaswamy P, Lytrivi ID, Nguyen K, Gelb BD. Neonatal Marfan syndrome : in utero presentation with aortic and pulmonary artery dilatation and successful repair of an acute flail mitral valve leaflet in infancy. Pediatric Cardiology. 27: 763-5. PMID 17091324 DOI: 10.1007/s00246-006-1378-0  0.32
2006 Li CY, Jepsen KJ, Majeska RJ, Zhang J, Ni R, Gelb BD, Schaffler MB. Mice lacking cathepsin K maintain bone remodeling but develop bone fragility despite high bone mass. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 21: 865-75. PMID 16753017 DOI: 10.1359/jbmr.060313  0.32
2006 Oishi K, Gaengel K, Krishnamoorthy S, Kamiya K, Kim IK, Ying H, Weber U, Perkins LA, Tartaglia M, Mlodzik M, Pick L, Gelb BD. Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. Human Molecular Genetics. 15: 543-53. PMID 16399795 DOI: 10.1093/hmg/ddi471  0.32
2005 Shemesh E, Annunziato RA, Shneider BL, Newcorn JH, Warshaw JK, Dugan CA, Gelb BD, Kerkar N, Yehuda R, Emre S. Parents and clinicians underestimate distress and depression in children who had a transplant. Pediatric Transplantation. 9: 673-9. PMID 16176429 DOI: 10.1111/j.1399-3046.2005.00382.x  0.32
2005 Bertola DR, Pereira AC, Passetti F, de Oliveira PS, Messiaen L, Gelb BD, Kim CA, Krieger JE. Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. American Journal of Medical Genetics. Part A. 136: 242-5. PMID 15948193 DOI: 10.1002/ajmg.a.30813  0.32
2004 Oishi K, Barchi M, Au AC, Gelb BD, Diaz GA. Male infertility due to germ cell apoptosis in mice lacking the thiamin carrier, Tht1. A new insight into the critical role of thiamin in spermatogenesis. Developmental Biology. 266: 299-309. PMID 14738878 DOI: 10.1016/j.ydbio.2003.10.026  0.32
2003 Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A, Hählen K, Hasle H, Licht JD, Gelb BD. Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nature Genetics. 34: 148-50. PMID 12717436 DOI: 10.1038/ng1156  0.32
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