Bruce D. Gelb
Child Health and Development Institute(US)
Publications by Year
Research Areas
Congenital heart defects research, Protein Tyrosine Phosphatases, Congenital Heart Disease Studies, Genomics and Rare Diseases, Galectins and Cancer Biology
Most-Cited Works
- → Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome(2001)1,728 cited
- → Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia(2003)1,034 cited
- → Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency(1996)1,015 cited
- → De novo mutations in histone-modifying genes in congenital heart disease(2013)953 cited
- → Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands(2017)913 cited
- → De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies(2015)872 cited
- → Genetic Basis for Congenital Heart Defects: Current Knowledge