World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
99
Citations
39033
World Ranking
776
National Ranking
387

Medicine

D-Index
100
Citations
41108
World Ranking
8224
National Ranking
4263

Overview

Bruce D. Gelb is affiliated with the Icahn School of Medicine at Mount Sinai in the United States. Their research spans multiple areas within biochemistry, genetics, and molecular biology, with a significant focus on medicine. Gelb's work includes extensive contributions in molecular biology, genetics, cardiology and cardiovascular medicine, epidemiology, and immunology.

The scientist's research topics prominently include genomics and rare diseases, congenital heart defects research, congenital heart disease studies, protein tyrosine phosphatases, galectins and cancer biology, genomic variations and chromosomal abnormalities, and cardiomyopathy and myosin studies.

Some of their recently published papers include:

  • Mapping Systemic Inflammation and Antibody Responses in Multisystem Inflammatory Syndrome in Children (MIS-C), 2020, Cell
  • Enabling Technologies for Personalized and Precision Medicine, 2020, Trends in Biotechnology
  • Genomic analyses implicate noncoding de novo variants in congenital heart disease, 2020, Nature Genetics
  • Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment, 2020, American Journal of Medical Genetics Part C Seminars in Medical Genetics
  • Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function, 2020, Immunity

Frequent co-authors collaborating with Gelb include Christine E. Seidman, Melissa Wasserstein, Eimear E. Kenny, Sarah U. Morton, and Wendy K. Chung.

Gelb's publications have appeared regularly in several key scientific venues. These include bioRxiv (Cold Spring Harbor Laboratory), The American Journal of Human Genetics, Genetics in Medicine, Circulation Genomic and Precision Medicine, and American Journal of Medical Genetics Part A.

Best Publications

  • Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

    Marco Tartaglia;Marco Tartaglia;Ernest L. Mehler;Rosalie Goldberg;Giuseppe Zampino

  • Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency

    Bruce D. Gelb;Guo-Ping Shi;Harold A. Chapman;Robert J. Desnick

  • Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia

    Marco Tartaglia;Charlotte M Niemeyer;Alessandra Fragale;Alessandra Fragale;Xiaoling Song

  • 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

    Mary Ella M Pierpont;Craig T. Basson;D. Woodrow Benson;Bruce D. Gelb

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

    Samir Zaidi;Murim Choi;Hiroko Wakimoto;Lijiang Ma

  • PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

    Marco Tartaglia;Marco Tartaglia;Kamini Kalidas;Adam Shaw;Xiaoling Song

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

    Xonia Carvajal-Vergara;Ana Sevilla;Sunita L. Dsouza;Yen Sin Ang

  • De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

    Jason Homsy;Samir Zaidi;Yufeng Shen;James S. Ware;James S. Ware;James S. Ware

  • Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

    Bhaswati Pandit;Anna Sarkozy;Len A Pennacchio;Claudio Carta

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

    Sheng Chih Jin;Jason Homsy;Samir Zaidi;Qiongshi Lu

  • Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines

    Alicia A. Romano;Judith E. Allanson;Jovanna Dahlgren;Bruce D. Gelb

  • Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

    Marco Tartaglia;Len A Pennacchio;Len A Pennacchio;Chen Zhao;Kamlesh K Yadav

  • X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.

    J. A. Towbin;J. F. Hejtmancik;P. Brink;B. Gelb

  • Genetics of Congenital Heart Disease

    Akl C. Fahed;Bruce D. Gelb;J. G. Seidman;Christine E. Seidman

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

    Conor N. Gruber;Roosheel S. Patel;Rebecca Trachtman;Lauren Lepow

  • Atenolol versus Losartan in Children and Young Adults with Marfan's Syndrome

    Ronald V. Lacro;Harry C. Dietz;Lynn A. Sleeper;Anji T. Yetman

  • Genetics of Congenital Heart Disease The Glass Half Empty

    Akl C. Fahed;Bruce D. Gelb;J. G. Seidman;Christine E. Seidman

  • Acute myocarditis. Rapid diagnosis by PCR in children.

    A B Martin;S Webber;F J Fricker;R Jaffe

  • Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

    Mary Ella Pierpont;Martina Brueckner;Wendy K Chung;Vidu Garg

  • Noonan syndrome and related disorders: genetics and pathogenesis.

    Marco Tartaglia;Bruce D. Gelb

Frequent Co-Authors

Marco Tartaglia
Marco Tartaglia Bambino Gesù Children's Hospital
Christine E. Seidman
Christine E. Seidman Harvard University
Robert J. Desnick
Robert J. Desnick Icahn School of Medicine at Mount Sinai
Wendy K. Chung
Wendy K. Chung Columbia University
Bruno Dallapiccola
Bruno Dallapiccola Bambino Gesù Children's Hospital
Richard P. Lifton
Richard P. Lifton Rockefeller University
Jonathan G. Seidman
Jonathan G. Seidman Harvard University
Martin Zenker
Martin Zenker Otto-von-Guericke University Magdeburg
Len A. Pennacchio
Len A. Pennacchio Lawrence Berkeley National Laboratory
Jane W. Newburger
Jane W. Newburger Boston Children's Hospital

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