Bruce D. Gelb

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

Daniel Taliun, Daniel Harris, Michael D. Kessler et al. · Nature · 2021 · 2.2K citations · Full text

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

Molecular Physiology, Signal Transduction, Genetic Disorder +8

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

Hematological Malignancy, Chromatin, Somatic Variant +10

Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency

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

Sclerostin, Cysteine Protease Gene, Pathology +19

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

Samir Zaidi, Murim Choi, Hiroko Wakimoto et al. · Nature · 2013 · 949 citations · Full text