G. Jawahar Swaminathan
Publications by Year
Research Areas
Genomics and Rare Diseases, Enzyme Structure and Function, Protein Structure and Dynamics, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics
Most-Cited Works
- → Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data(2014)787 cited
- → The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery(2015)482 cited
- → Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing(2016)464 cited
- → DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation(2013)234 cited
- → Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans(2014)185 cited
- → OneDep: Unified wwPDB System for Deposition, Biocuration, and Validation of Macromolecular Structures in the PDB Archive(2017)167 cited
- → Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families(2015)162 cited
- → Remediation of the protein data bank archive(2007)139 cited
- → Charcot-Leyden Crystal Protein (Galectin-10) Is Not a Dual Function Galectin with Lysophospholipase Activity but Binds a Lysophospholipase Inhibitor in a Novel Structural Fashion(2002)122 cited
- → Data Deposition and Annotation at the Worldwide Protein Data Bank(2008)120 cited