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Your search keyword '"Swaminathan GJ"' showing total 32 results

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32 results on '"Swaminathan GJ"'

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1. Prevalence and architecture of de novo mutations in developmental disorders

2. Large-scale discovery of novel genetic causes of developmental disorders

3. Worldwide Protein Data Bank biocuration supporting open access to high-quality 3D structural biology data.

4. OneDep: Unified wwPDB System for Deposition, Biocuration, and Validation of Macromolecular Structures in the PDB Archive.

5. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

6. Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

7. Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

8. The Matchmaker Exchange: a platform for rare disease gene discovery.

9. Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.

10. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.

11. Rare variants in NR2F2 cause congenital heart defects in humans.

12. DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation.

13. DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.

14. PDBe: Protein Data Bank in Europe.

15. PDBe: Protein Data Bank in Europe.

16. Data deposition and annotation at the worldwide protein data bank.

17. Data deposition and annotation at the worldwide protein data bank.

18. Crystal structures of eosinophil-derived neurotoxin (EDN) in complex with the inhibitors 5'-ATP, Ap3A, Ap4A, and Ap5A.

19. E-MSD: improving data deposition and structure quality.

20. Eosinophil-granule major basic protein, a C-type lectin, binds heparin.

21. E-MSD: an integrated data resource for bioinformatics.

22. Roles of individual enzyme-substrate interactions by alpha-1,3-galactosyltransferase in catalysis and specificity.

23. Crystal structures of oligomeric forms of the IP-10/CXCL10 chemokine.

24. Structural basis of ordered binding of donor and acceptor substrates to the retaining glycosyltransferase, alpha-1,3-galactosyltransferase.

25. 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.

26. Atomic resolution (0.98 A) structure of eosinophil-derived neurotoxin.

27. Structure of UDP complex of UDP-galactose:beta-galactoside-alpha -1,3-galactosyltransferase at 1.53-A resolution reveals a conformational change in the catalytically important C terminus.

28. Structure of the induced antibacterial protein from tasar silkworm, Antheraea mylitta. Implications to molecular evolution.

29. Crystal structure of the eosinophil major basic protein at 1.8 A. An atypical lectin with a paradigm shift in specificity.

30. Mapping the ribonucleolytic active site of eosinophil-derived neurotoxin (EDN). High resolution crystal structures of EDN complexes with adenylic nucleotide inhibitors.

31. The crystal structure of human placenta growth factor-1 (PlGF-1), an angiogenic protein, at 2.0 A resolution.

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