G. Swaminathan

发表

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Orion J. Buske, Danielle R Azzariti, G. J. Swaminathan, 2015, Human mutation.

Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER

Caroline F. Wright, Helen V. Firth, Eleni A. Chatzimichali, 2015, Human mutation.

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*

G. J. Swaminathan, K. Acharya, D. Leonidas, 2002, The Journal of Biological Chemistry.

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

Alejandro Sifrim, Matthew E Hurles, Tomas W. Fitzgerald, 2015, The Lancet.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

The Crystal Structure of Human Placenta Growth Factor-1 (PlGF-1), an Angiogenic Protein, at 2.0 Å Resolution*

G. J. Swaminathan, K. Acharya, D. Leonidas, 2001, The Journal of Biological Chemistry.

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

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016, Nature Genetics.

2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Alessandro, G. J. Swaminathan, A. Green, 2019 .

Rare variants in NR2F2 cause congenital heart defects in humans.

Marc Gewillig, Matthew E Hurles, Reiner Siebert, 2014, American journal of human genetics.

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

Caroline F. Wright, Helen V. Firth, Jawahar Swaminathan, 2013, Nucleic Acids Res..

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

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

Morad Ansari, Alejandro Sifrim, Matthew E Hurles, 2015, Nature Genetics.

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

Keith Brew, Zhihong Xie, K Ravi Acharya, 2003, Biochemistry.

Structural Basis of Ordered Binding of Donor and Acceptor Substrates to the Retaining Glycosyltransferase, α-1,3-Galactosyltransferase*

G. J. Swaminathan, K. Brew, E. Boix, 2002, The Journal of Biological Chemistry.

Structure of UDP Complex of UDP-galactose:β-Galactoside-α-1,3-galactosyltransferase at 1.53-Å Resolution Reveals a Conformational Change in the Catalytically Important C Terminus*

G. J. Swaminathan, K. Brew, R. Natesh, 2001, The Journal of Biological Chemistry.

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

G. J. Swaminathan, K. Acharya, A. Papageorgiou, 2003, Structure.

PDBe: Protein Data Bank in Europe

Sameer Velankar, Swanand P. Gore, Gerard J. Kleywegt, 2009, Nucleic Acids Res..

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

Manuel Corpas, Matthew E Hurles, Caroline F Wright, 2012, Human molecular genetics.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

G. J. Swaminathan, M. Hurles, R. Siebert, 2016, American journal of human genetics.

Data Deposition and Annotation at the Worldwide Protein Data Bank

Haruki Nakamura, Helen M Berman, Shuchismita Dutta, 2009, Molecular biotechnology.

Crystal Structure of the Eosinophil Major Basic Protein at 1.8 Å

G. J. Swaminathan, D. Loegering, K. Acharya, 2001, Journal of Biological Chemistry.

Mapping the Ribonucleolytic Active Site of Eosinophil-derived Neurotoxin (EDN)

G. J. Swaminathan, E. Boix, K. Acharya, 2001, The Journal of Biological Chemistry.

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

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

Naohiro Kobayashi, Haruki Nakamura, Zukang Feng, 2017, Structure.

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

K. Acharya, D. E. Holloway, M. Baker, 2006, Biochemistry.