Computational Biophysics and Bioinformatics

R. Aprigliano, S. Bradamante, B. Mihaljevic, W. Wang, S. L. F. Martin, D. L. Bordin, M. Bosshard, N. P. Montaldo, et al.
Increased p53 signaling impairs neural differentiation causing HUWE1-promoted intellectual disabilities
Cell Reports Medicine, 2, 100240, 2021
URL, DOI, RIS, BibTex

E. Alexov and others
An Ensemble Approach to Predict the Pathogenicity of Synonymous Variants.
Genes, 11(9), 2020
RIS, BibTex

Y.-R. Lee, K. Khan, K. Armfield-Uhas, S. Srikanth, N. A. Thompson, M. Pardo, L. Yu, J. W. Norris, et al.
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy
Nature communications, 11(1), 1-17, 2020
RIS, BibTex

C. Li, Z. Jia, A. Chakravorty, S. Pahari, Y. Peng, S. Basu, M. Koirala, S. K. Panday, et al.
DelPhi suite: New developments and review of functionalities
Journal of computational chemistry, 40(28), 2502-2508, 2019
RIS, BibTex

C. J. Spellicy, Y. Peng, L. Olewiler, S. S. Cathey, R. C. Rogers, D. Bartholomew, J. Johnson, E. Alexov, et al.
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
Journal of human genetics, 64(6), 561-572, 2019
RIS, BibTex

C. J. Spellicy, J. Norris, R. Bend, C. Bupp, P. Mester, T. Reynolds, J. Dean, Y. Peng, et al.
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects
European Journal of Human Genetics, 26(3), 420-427, 2018
RIS, BibTex

K. Vaidyanathan, T. Niranjan, N. Selvan, C. F. Teo, M. May, S. Patel, B. Weatherly, C. Skinner, et al.
Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability
Journal of Biological Chemistry, 292(21), 8948-8963, 2017
RIS, BibTex

K. Vaidyanathan, T. Niranjan, N. Selvan, C. F. Teo, M. May, S. Patel, B. Weatherly, C. Skinner, et al.
Identification and characterization of a missense mutation in the O-GlcNAc transferase gene that segregates with X-linked intellectual disability
J. Biol. Chem, 292, 8948-8963, 2017
RIS, BibTex

M. May, K.-S. Hwang, J. Miles, C. Williams, T. Niranjan, S. G. Kahler, P. Chiurazzi, K. Steindl, et al.
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons
Human molecular genetics, 24(17), 4848-4861, 2015
RIS, BibTex

Z. Zhang, V. Martiny, D. Lagorce, Y. Ikeguchi, E. Alexov, and others
Rational Design of Small-Molecule Stabilizers of Spermine Synthase Dimer by Virtual
2014
RIS, BibTex

L. Boccuto, K. Aoki, H. Flanagan-Steet, C.-F. Chen, X. Fan, F. Bartel, M. Petukh, A. Pittman, et al.
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt \& pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation
Human molecular genetics, 23(2), 418-433, 2014
RIS, BibTex

K. Takano, D. Liu, P. Tarpey, E. Gallant, A. Lam, S. Witham, E. Alexov, A. Chaubey, et al.
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity
Human molecular genetics, 21(20), 4497-4507, 2012
RIS, BibTex

E. Alexov, E. L. Mehler, N. Baker, A. M. Baptista, Y. Huang, F. Milletti, J. E. Nielsen, D. Farrell, et al.
Progress in the prediction of pKa values in proteins
Proteins: structure, function, and bioinformatics, 79(12), 3260-3275, 2011
RIS, BibTex

A. Pittman, R. Saul, A. Chaubey, E. Alexov, M. Tiemeyer, R. Steet, C. Schwartz, M. B\'en\'eteau, et al.
PMCID: PMC2695060.
Int Immunol, 22(7), 593-603, 2010
RIS, BibTex

N. Tanaka, S. Nakao, J. Chatellier, Y. Tani, T. Tada, S. Kunugi, F. Sicilia, B. Mattei, et al.
Proteins and Proteomics Cumulative Contents
Biochimica et Biophysica Acta, 1748, 233-234, 2005
RIS, BibTex

D. Petrey, Z. Xiang, C. L. Tang, L. Xie, M. Gimpelev, T. Mitros, C. S. Soto, S. Goldsmith-Fischman, et al.
Using multiple structure alignments, fast model building, and energetic analysis in fold recognition and homology modeling
Proteins: Structure, Function, and Bioinformatics, 53(6), 430-435, 2003
RIS, BibTex

Computational Biophysics and Bioinformatics

Professor Emil Alexov Group

Journal Articles by Others

Conference Papers