Concepedia

Bruce D. Gelb

BD

Statistics

Publications

233

Citations

31.5K

H-Index

87

Active since

1990

Affiliations

Icahn School of Medicine at Mount Sinai(Current)

Child Health and Development Institute

Harvard University

Boston Children's Hospital

Brigham and Women's Hospital

Bruce D. Gelb is an author at Icahn School of Medicine at Mount Sinai specializing in genetics, life sciences, and molecular genetics.

ORCID

Publications per year

1990–2025

233

Publications

233

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

Daniel Taliun, Daniel Harris, Michael D. Kessler et al. · Nature · 2021 · 2.3K citations · Full text

, , +17

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

Marco Tartaglia, Ernest L. Mehler, Rosalie Goldberg et al. · Nature Genetics · 2001 · 1.7K citations

, , +11

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

Marco Tartaglia, Charlotte M. Niemeyer, Alessandra Fragale et al. · Nature Genetics · 2003 · 1K citations

, , +17

Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency

Bruce D. Gelb, Guo‐Ping Shi, Harold A. Chapman et al. · Science · 1996 · 1K citations

, , +17

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

Samir Zaidi, Murim Choi, Hiroko Wakimoto et al. · Nature · 2013 · 958 citations · Full text

, , +14

1–5 of 233