Gelb, Bruce D.

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Taliun, D., Harris, D. N., Kessler, M. D., Carlson, J., Szpiech, Z. A., Torres, R., Taliun, S. A. G., Corvelo, A., Gogarten, S. M., Kang, H. M., et al. (2021) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

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De novo mutations in histone-modifying genes in congenital heart disease

Zaidi, S., Choi, M., Wakimoto, H., Ma, L., Jiang, J., Overton, J. D., Romano-Adesman, A., Bjornson, R. D., Breitbart, R. E., Brown, K. K., et al. (2013) · Nature

Congenital heart defects researchGenomics and Rare Diseases

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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Jin, S. C., Homsy, J., Zaidi, S., Lu, Q., Morton, S., DePalma, S. R., Zeng, X., Qi, H., Chang, W., Sierant, M. C., et al. (2017) · Nature Genetics

Congenital heart defects researchGenomics and Rare Diseases

Cited by 875

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

Bick, A. G., Weinstock, J. S., Nandakumar, S. K., Fulco, C. P., Bao, E. L., Zekavat, S. M., Szeto, M. D., Liao, X., Leventhal, M. J., Nasser, J., et al. (2020) · Nature

Acute Myeloid Leukemia ResearchGenetic Associations and Epidemiology

Cited by 733

Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome

Carvajal-Vergara, X., Sevilla, A., D’Souza, S. L., Ang, Y.-S., Schaniel, C., Lee, D.-F., Yang, L., Kaplan, A. D., Adler, E. D., Rozov, R., et al. (2010) · Nature

Pluripotent Stem Cells ResearchCongenital heart defects research

Cited by 690

Genetic basis for congenital heart disease: Revisited: A scientific statement from the American Heart Association

Pierpont, M. E., Brueckner, M., Chung, W. K., Garg, V., Lacro, R. V., McGuire, A. L., Mital, S., Priest, J. R., Pu, W. T., Roberts, A., et al. (2018) · Circulation

Congenital heart defects researchCongenital Heart Disease Studies

Cited by 654

Mapping Systemic Inflammation and Antibody Responses in Multisystem Inflammatory Syndrome in Children (MIS-C)

Gruber, C. N., Patel, R. S., Trachtman, R., Lepow, L., Amanat, F., Krammer, F., Wilson, K. M., Onel, K., Geanon, D., Tuballes, K., et al. (2020) · Cell

Kawasaki Disease and Coronary ComplicationsAutoimmune and Inflammatory Disorders Research

Cited by 551

Enabling Technologies for Personalized and Precision Medicine

Ho, D., Quake, S. R., McCabe, E. R. B., Chng, W. J., Chow, E. K., Ding, X., Gelb, B. D., Ginsburg, G. S., Hassenstab, J., Ho, C.-M., et al. (2020) · Trends in Biotechnology

Technology and Human Factors in Education and HealthAdvanced Biosensing Techniques and Applications

Cited by 517

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease

Tartaglia, M., Martinelli, S., Stella, L., Bocchinfuso, G., Flex, E., Cordeddu, V., Zampino, G., van der Burgt, I., Palleschi, A., Petrucci, T. C., et al. (2006) · The American Journal of Human Genetics

Protein Tyrosine PhosphatasesProtein Kinase Regulation and GTPase Signaling

Cited by 415

NOONAN SYNDROME AND RELATED DISORDERS: Genetics and Pathogenesis

Tartaglia, M., & Gelb, B. D. (2005) · Annual Review of Genomics and Human Genetics

Protein Tyrosine PhosphatasesGenomics and Rare Diseases

Cited by 355

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., Cordeddu, V., Lepri, F., et al. (2009) · Human Mutation

Protein Tyrosine PhosphatasesGenomics and Rare Diseases

Cited by 303

Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data

Glessner, J. T., Bick, A. G., Ito, K., Homsy, J. G., Rodriguez-Murillo, L., Fromer, M., Mazaika, E., Vardarajan, B., Italia, M., Leipzig, J., et al. (2014) · Circulation Research

Genomic variations and chromosomal abnormalitiesCongenital heart defects research

Cited by 268

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype

Martinelli, S., De Luca, A., Stellacci, E., Rossi, C., Checquolo, S., Lepri, F., Caputo, V., Silvano, M., Buscherini, F., Consoli, F., et al. (2010) · The American Journal of Human Genetics

Protein Tyrosine PhosphatasesGenomics and Rare Diseases

Cited by 259

The Phosphatase SHP2 Regulates the Spacing Effect for Long-Term Memory Induction

Pagani, M. R., Oishi, K., Gelb, B. D., & Zhong, Y. (2009) · Cell

Neurobiology and Insect Physiology ResearchMemory and Neural Mechanisms

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

Cashman, T. J., Josowitz, R., Johnson, B. V., Gelb, B. D., & Costa, K. D. (2016) · PLOS ONE

Pluripotent Stem Cells ResearchCardiomyopathy and Myosin Studies

Cited by 101

Myopathic Cardiac Genotypes Increase Risk for Myocarditis

Kontorovich, A. R., Patel, N., Moscati, A., Richter, F., Peter, I., Purevjav, E., Selejan, S. R., Kindermann, I., Towbin, J. A., Bohm, M., et al. (2021) · JACC: Basic to Translational Science

Viral Infections and Immunology ResearchCardiomyopathy and Myosin Studies

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Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations

Oishi, K., Gaengel, K., Krishnamoorthy, S., Kamiya, K., Kim, I.-K., Ying, H., Weber, U., Perkins, L. A., Tartaglia, M., Mlodzik, M., et al. (2006) · Human Molecular Genetics

Protein Tyrosine PhosphatasesProtein Kinase Regulation and GTPase Signaling

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Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease

Morton, S. U., Shimamura, A., Newburger, P. E., Opotowsky, A. R., Quiat, D., Pereira, A. C., Jin, S. C., Gurvitz, M., Brueckner, M., Chung, W. K., et al. (2021) · JAMA Cardiology

Congenital Heart Disease StudiesGenomics and Rare Diseases

Cited by 62

Spliceosome Malfunction Causes Neurodevelopmental Disorders with Overlapping Features

Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., et al. (2024) · Journal of Clinical Investigation

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

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

Josowitz, R., Mulero-Navarro, S., Rodriguez, N. A., Falce, C., Cohen, N., Ullian, E. M., Weiss, L. A., Rauen, K. A., Sobie, E. A., & Gelb, B. D. (2016) · Stem Cell Reports

Cardiomyopathy and Myosin StudiesCongenital heart defects research

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Cardiovascular manifestations of hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders

Rashed, E. R., Ruiz Maya, T., Black, J., Fettig, V., Kadian-Dodov, D., Olin, J. W., Mehta, L., Gelb, B. D., & Kontorovich, A. R. (2022) · Vascular Medicine

Connective tissue disorders researchAortic Disease and Treatment Approaches

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Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program

Cade, B. E., Lee, J., Sofer, T., Wang, H., Zhang, M., Chen, H., Gharib, S. A., Gottlieb, D. J., Guo, X., Lane, J. M., et al. (2021) · Genome Medicine

Obstructive Sleep Apnea ResearchGenetic Associations and Epidemiology

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Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects

Edwards, J. J., Rouillard, A. D., Fernandez, N. F., Wang, Z., Lachmann, A., Shankaran, S. S., Bisgrove, B. W., Demarest, B., Turan, N., Srivastava, D., et al. (2020) · JACC: Basic to Translational Science

Congenital heart defects researchCardiomyopathy and Myosin Studies

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Structural variation across 138,134 samples in the TOPMed consortium

Jun, G., English, A., Metcalf, G., Yang, J., Chaisson, M., Pankratz, N., Menon, V., Salerno, W., Krasheninina, O., Smith, A., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory)

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

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