Takip et
G.J. Swaminathan
G.J. Swaminathan
Oxford Nanopore Technologies
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Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
8802017
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
CF Wright, TW Fitzgerald, WD Jones, S Clayton, JF McRae, ...
The Lancet 385 (9975), 1305-1314, 2015
8162015
Large-scale discovery of novel genetic causes of developmental disorders
Nature 519 (7542), 223-228, 2015
7432015
The Matchmaker Exchange: a platform for rare disease gene discovery
AA Philippakis, DR Azzariti, S Beltran, AJ Brookes, CA Brownstein, ...
Human mutation 36 (10), 915-921, 2015
4882015
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
A Sifrim, MP Hitz, A Wilsdon, J Breckpot, SHA Turki, B Thienpont, ...
Nature genetics 48 (9), 1060-1065, 2016
4022016
PDBe: protein data bank in Europe
S Velankar, C Best, B Beuth, CH Boutselakis, N Cobley, AWS Da Silva, ...
Nucleic acids research 38 (suppl 1), D308-D317, 2010
2972010
DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation
E Bragin, EA Chatzimichali, CF Wright, ME Hurles, HV Firth, AP Bevan, ...
Nucleic acids research 42 (D1), D993-D1000, 2014
2432014
Histone lysine methylases and demethylases in the landscape of human developmental disorders
V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ...
The American Journal of Human Genetics 102 (1), 175-187, 2018
2052018
Rare variants in NR2F2 cause congenital heart defects in humans
S Al Turki, AK Manickaraj, CL Mercer, SS Gerety, MP Hitz, S Lindsay, ...
The American Journal of Human Genetics 94 (4), 574-585, 2014
1812014
Remediation of the protein data bank archive
K Henrick, Z Feng, WF Bluhm, D Dimitropoulos, JF Doreleijers, S Dutta, ...
Nucleic acids research 36 (suppl_1), D426-D433, 2007
1802007
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
N Akawi, J McRae, M Ansari, M Balasubramanian, M Blyth, AF Brady, ...
Nature genetics 47 (11), 1363-1369, 2015
1642015
The crystal structure of human placenta growth factor-1 (PlGF-1), an angiogenic protein, at 2.0 Å resolution
S Iyer, DD Leonidas, GJ Swaminathan, D Maglione, M Battisti, M Tucci, ...
Journal of Biological Chemistry 276 (15), 12153-12161, 2001
1632001
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
SJ Ackerman, L Liu, MA Kwatia, MP Savage, DD Leonidas, ...
Journal of Biological Chemistry 277 (17), 14859-14868, 2002
1532002
E-MSD: the European bioinformatics institute macromolecular structure database
H Boutselakis, D Dimitropoulos, J Fillon, A Golovin, K Henrick, A Hussain, ...
Nucleic acids research 31 (1), 458-462, 2003
1462003
OneDep: unified wwPDB system for deposition, biocuration, and validation of macromolecular structures in the PDB archive
JY Young, JD Westbrook, Z Feng, R Sala, E Peisach, TJ Oldfield, S Sen, ...
Structure 25 (3), 536-545, 2017
1422017
Selective Recognition of Mannose by the Human Eosinophil Charcot-Leyden Crystal Protein (Galectin-10): A Crystallographic Study at 1.8 Å Resolution,
GJ Swaminathan, DD Leonidas, MP Savage, SJ Ackerman, KR Acharya
Biochemistry 38 (42), 13837-13843, 1999
1381999
Structural basis of ordered binding of donor and acceptor substrates to the retaining glycosyltransferase, α-1, 3-galactosyltransferase
E Boix, Y Zhang, GJ Swaminathan, K Brew, KR Acharya
Journal of Biological Chemistry 277 (31), 28310-28318, 2002
1372002
Data deposition and annotation at the worldwide protein data bank
S Dutta, K Burkhardt, J Young, GJ Swaminathan, T Matsuura, K Henrick, ...
Molecular biotechnology 42, 1-13, 2009
1342009
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype
LG Sadleir, EI Mountier, D Gill, S Davis, C Joshi, C DeVile, MA Kurian, ...
Neurology 89 (10), 1035-1042, 2017
1282017
Crystal structures of oligomeric forms of the IP-10/CXCL10 chemokine
GJ Swaminathan, DE Holloway, RA Colvin, GK Campanella, ...
Structure 11 (5), 521-532, 2003
1212003
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