Sachin Mathur, Ph.D. - Related publications

2012 Computer Science University of Missouri - Kansas City, USA 
Computer Science, Applied Mathematics, Statistics
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50 most relevant papers in past 60 days:
Year Citation  Score
2020 Mi Z, Guo B, Yang X, Yin Z, Zheng Z. LAMP: disease classification derived from layered assessment on modules and pathways in the human gene network. Bmc Bioinformatics. 21: 487. PMID 33126852 DOI: 10.1186/s12859-020-03800-2   
2020 Bean DM, Al-Chalabi A, Dobson RJB, Iacoangeli A. A Knowledge-Based Machine Learning Approach to Gene Prioritisation in Amyotrophic Lateral Sclerosis. Genes. 11. PMID 32575372 DOI: 10.3390/genes11060668   
2020 Jha M, Roy S, Kalita JK. Prioritizing disease biomarkers using functional module based network analysis: A multilayer consensus driven scheme. Computers in Biology and Medicine. 126: 104023. PMID 33049478 DOI: 10.1016/j.compbiomed.2020.104023   
2020 Cheikhi AM, Johnson ZI, Julian DR, Wheeler S, Feghali-Bostwick C, Conley YP, Lyons-Weiler J, Yates CC. Prediction of severity and subtype of fibrosing disease using model informed by inflammation and extracellular matrix gene index. Plos One. 15: e0240986. PMID 33095822 DOI: 10.1371/journal.pone.0240986   
2020 Link N, Bellen HJ. Using to drive the diagnosis and understand the mechanisms of rare human diseases. Development (Cambridge, England). 147. PMID 32988995 DOI: 10.1242/dev.191411   
2020 Ghoussaini M, Mountjoy E, Carmona M, Peat G, Schmidt EM, Hercules A, Fumis L, Miranda A, Carvalho-Silva D, Buniello A, Burdett T, Hayhurst J, Baker J, Ferrer J, Gonzalez-Uriarte A, et al. Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics. Nucleic Acids Research. PMID 33045747 DOI: 10.1093/nar/gkaa840   
2020 Cring MR, Sheffield VC. Gene therapy and gene correction: targets, progress, and challenges for treating human diseases. Gene Therapy. PMID 33037407 DOI: 10.1038/s41434-020-00197-8   
2020 Yepes S, Tucker MA, Koka H, Xiao Y, Jones K, Vogt A, Burdette L, Luo W, Zhu B, Hutchinson A, Yeager M, Hicks B, Freedman ND, Chanock SJ, Goldstein AM, et al. Using whole-exome sequencing and protein interaction networks to prioritize candidate genes for germline cutaneous melanoma susceptibility. Scientific Reports. 10: 17198. PMID 33057211 DOI: 10.1038/s41598-020-74293-5   
2020 McKnight I, Hart C, Park IH, Shim JW. Genes causing congenital hydrocephalus: Their chromosomal characteristics of telomere proximity and DNA compositions. Experimental Neurology. 113523. PMID 33157092 DOI: 10.1016/j.expneurol.2020.113523   
2020 Garcia J, Arranz-Gibert P, Sánchez-Navarro M, Giralt E, Teixidó M. Peptide Shuttle-Mediated Delivery for Brain Gene Therapies. Current Topics in Medicinal Chemistry. PMID 33100204 DOI: 10.2174/1568026620666201023122903   
2020 Zhou X, Chan KCC, Huang Z, Wang J. Determining dependency and redundancy for identifying gene-gene interaction associated with complex disease. Journal of Bioinformatics and Computational Biology. 2050035. PMID 33064052 DOI: 10.1142/S0219720020500353   
2020 Jacobs BM, Taylor T, Awad A, Baker D, Giovanonni G, Noyce AJ, Dobson R. Summary-data-based Mendelian randomization prioritizes potential druggable targets for multiple sclerosis. Brain Communications. 2: fcaa119. PMID 33005893 DOI: 10.1093/braincomms/fcaa119   
2020 Liu W, Li M, Zhang W, Zhou G, Wu X, Wang J, Lu Q, Zhao H. Leveraging functional annotation to identify genes associated with complex diseases. Plos Computational Biology. 16: e1008315. PMID 33137096 DOI: 10.1371/journal.pcbi.1008315   
2020 Corces MR, Shcherbina A, Kundu S, Gloudemans MJ, Frésard L, Granja JM, Louie BH, Eulalio T, Shams S, Bagdatli ST, Mumbach MR, Liu B, Montine KS, Greenleaf WJ, Kundaje A, et al. Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer's and Parkinson's diseases. Nature Genetics. PMID 33106633 DOI: 10.1038/s41588-020-00721-x   
2020 Ivanov DK, Bostelmann G, Lan-Leung B, Williams J, Partridge L, Escott-Price V, Thornton JM. A novel computational approach for predicting complex phenotypes in Drosophila (starvation-sensitive and sterile) by deriving their gene expression signatures from public data. Plos One. 15: e0240824. PMID 33104720 DOI: 10.1371/journal.pone.0240824   
2020 Zhang C, Genchev GZ, Bergau D, Lu H. Correlations Between Phenotypes and Biological Process Ontologies in Monogenic Human Diseases. Interdisciplinary Sciences, Computational Life Sciences. PMID 33113078 DOI: 10.1007/s12539-020-00400-9   
2020 Cruz-Ávila HA, Vallejo M, Martínez-García M, Hernández-Lemus E. Comorbidity Networks in Cardiovascular Diseases. Frontiers in Physiology. 11: 1009. PMID 32982776 DOI: 10.3389/fphys.2020.01009   
2020 Yu Z, Huang F, Zhao X, Xiao W, Zhang W. Predicting drug-disease associations through layer attention graph convolutional network. Briefings in Bioinformatics. PMID 33078832 DOI: 10.1093/bib/bbaa243   
2020 Tamargo-Gómez I, Fernández ÁF, Mariño G. Pathogenic Single Nucleotide Polymorphisms on Autophagy-Related Genes. International Journal of Molecular Sciences. 21. PMID 33147747 DOI: 10.3390/ijms21218196   
2020 Nguyen ND, Jin T, Wang D. Varmole: A biologically drop-connect deep neural network model for prioritizing disease risk variants and genes. Bioinformatics (Oxford, England). PMID 33031552 DOI: 10.1093/bioinformatics/btaa866   
2020 Rashid NU, Li Q, Yeh JJ, Ibrahim JG. Modeling Between-Study Heterogeneity for Improved Replicability in Gene Signature Selection and Clinical Prediction. Journal of the American Statistical Association. 115: 1125-1138. PMID 33012902 DOI: 10.1080/01621459.2019.1671197   
2020 Tudini E, Davidson AL, Dressel U, Andrews L, Antill Y, Crook A, Field M, Gattas M, Harris R, Kirk J, Pachter N, Salmon L, Susman R, Townshend S, Trainer AH, et al. Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility. Journal of Medical Genetics. PMID 33168572 DOI: 10.1136/jmedgenet-2020-107140   
2020 Au PYB, Eaton A, Dyment DA. Genetic mechanisms of neurodevelopmental disorders. Handbook of Clinical Neurology. 173: 307-326. PMID 32958182 DOI: 10.1016/B978-0-444-64150-2.00024-1   
2020 Wang H, Yang J, Zhang Y, Wang J. Discover novel disease-associated genes based on regulatory networks of long-range chromatin interactions. Methods (San Diego, Calif.). PMID 33096239 DOI: 10.1016/j.ymeth.2020.10.010   
2020 Lowry JL, Ryan ÉB, Esengul YT, Siddique N, Siddique T. Intricacies of aetiology in intrafamilial degenerative disease. Brain Communications. 2: fcaa120. PMID 33134917 DOI: 10.1093/braincomms/fcaa120   
2020 Lin CC, Ashizawa T, Kuo SH. Collaborative Efforts for Spinocerebellar Ataxia Research in the United States: CRC-SCA and READISCA. Frontiers in Neurology. 11: 902. PMID 32982927 DOI: 10.3389/fneur.2020.00902   
2020 Owen KA, Price A, Ainsworth H, Aidukaitis BN, Bachali P, Catalina MD, Dittman JM, Howard TD, Kingsmore KM, Labonte AC, Marion MC, Robl RD, Zimmerman KD, Langefeld CD, Grammer AC, et al. Analysis of Trans-Ancestral SLE Risk Loci Identifies Unique Biologic Networks and Drug Targets in African and European Ancestries. American Journal of Human Genetics. PMID 33031749 DOI: 10.1016/j.ajhg.2020.09.007   
2020 Méjécase C, Malka S, Guan Z, Slater A, Arno G, Moosajee M. Practical guide to genetic screening for inherited eye diseases. Therapeutic Advances in Ophthalmology. 12: 2515841420954592. PMID 33015543 DOI: 10.1177/2515841420954592   
2020 Pierce SE, Booms A, Prahl J, van der Schans EJC, Tyson T, Coetzee GA. Post-GWAS knowledge gap: the how, where, and when. Npj Parkinson's Disease. 6: 23. PMID 32964108 DOI: 10.1038/s41531-020-00125-y   
2020 Mullin NK, Voigt AP, Cooke JA, Bohrer LR, Burnight ER, Stone EM, Mullins RF, Tucker BA. Patient derived stem cells for discovery and validation of novel pathogenic variants in inherited retinal disease. Progress in Retinal and Eye Research. 100918. PMID 33130253 DOI: 10.1016/j.preteyeres.2020.100918   
2020 Zhang D, Zhu L, Liu Z, Ren X, Yang X, Li D, Luo Y, Peng X, Zhou X, Jia W, Hou M, Li Z, Jin L, Zhang X. A novel mutation in ZP3 causes empty follicle syndrome and abnormal zona pellucida formation. Journal of Assisted Reproduction and Genetics. PMID 33140178 DOI: 10.1007/s10815-020-01995-0   
2020 Díaz-Santiago E, Jabato FM, Rojano E, Seoane P, Pazos F, Perkins JR, Ranea JAG. Phenotype-genotype comorbidity analysis of patients with rare disorders provides insight into their pathological and molecular bases. Plos Genetics. 16: e1009054. PMID 33001999 DOI: 10.1371/journal.pgen.1009054   
2020 Zarkali A, McColgan P, Ryten M, Reynolds R, Leyland LA, Lees AJ, Rees G, Weil RS. Differences in network controllability and regional gene expression underlie hallucinations in Parkinson's disease. Brain : a Journal of Neurology. PMID 33118028 DOI: 10.1093/brain/awaa270   
2020 Yetim E, Gul T, Basak AN, Saka E. An Unusual Familial Dementia Associated with G131V PRNP Mutation. European Journal of Neurology. PMID 32986314 DOI: 10.1111/ene.14559   
2020 Zhang X, Walsh R, Whiffin N, Buchan R, Midwinter W, Wilk A, Govind R, Li N, Ahmad M, Mazzarotto F, Roberts A, Theotokis PI, Mazaika E, Allouba M, de Marvao A, et al. Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33046849 DOI: 10.1038/s41436-020-00972-3   
2020 Guerra C, Joshi S, Lu Y, Palini F, Ferraro Petrillo U, Rossignac J. Rank-Similarity Measures for Comparing Gene Prioritizations: A Case Study in Autism. Journal of Computational Biology : a Journal of Computational Molecular Cell Biology. PMID 33103913 DOI: 10.1089/cmb.2020.0244   
2020 Wang MY, Li WY, Zhou R, Wang SY, Liu DJ, Zheng HC, Li J, Li N, Zhou ZB, Zhu HP, Wu T, Hu YH. [Evaluating the effect of WNT pathway genes considering interactions on the risk of non-syndromic oral clefts among Chinese populations]. Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences. 52: 815-820. PMID 33047713   
2020 Lu T, Zhou S, Wu H, Forgetta V, Greenwood CMT, Richards JB. Individuals with common diseases but with a low polygenic risk score could be prioritized for rare variant screening. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33110269 DOI: 10.1038/s41436-020-01007-7   
2020 Brown MA, Xu H, Li Z. Genetics and the axial spondyloarthritis spectrum. Rheumatology (Oxford, England). 59: iv58-iv66. PMID 33053195 DOI: 10.1093/rheumatology/keaa464   
2020 Mhaske A, Dileep KV, Kumar M, Poojary M, Pandhare K, Zhang KYJ, Scaria V, Binukumar BK. ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene. Computational and Structural Biotechnology Journal. 18: 2347-2356. PMID 32994893 DOI: 10.1016/j.csbj.2020.08.021   
2020 Manshaei R, Merico D, Reuter MS, Engchuan W, Mojarad BA, Chaturvedi R, Heung T, Pellecchia G, Zarrei M, Nalpathamkalam T, Khan R, Okello JBA, Liston E, Curtis M, Yuen RKC, et al. Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences. Frontiers in Genetics. 11: 957. PMID 33110418 DOI: 10.3389/fgene.2020.00957   
2020 Carter M, Gomez S, Gritz S, Larson S, Silva-Herzog E, Kim HS, Schulz D, Hovel-Miner G. A Trypanosoma brucei ORFeome-Based Gain-of-Function Library Identifies Genes That Promote Survival during Melarsoprol Treatment. Msphere. 5. PMID 33028684 DOI: 10.1128/mSphere.00769-20   
2020 Remes A, Basha DI, Frey N, Wagner AH, Müller OJ. Gene Transfer to the Vascular System: Novel Translational Perspectives for Vascular Diseases. Biochemical Pharmacology. 114265. PMID 33035508 DOI: 10.1016/j.bcp.2020.114265   
2020 Bendstrup E, Jönsson ÅLM. Pulmonary alveolar microlithiasis: no longer in the stone age. Erj Open Research. 6. PMID 32964001 DOI: 10.1183/23120541.00289-2020   
2020 Maia PD, Pandya S, Freeze B, Torok J, Gupta A, Zeighami Y, Raj A. Origins of atrophy in Parkinson linked to early onset and local transcription patterns. Brain Communications. 2: fcaa065. PMID 32954322 DOI: 10.1093/braincomms/fcaa065   
2020 Maia PD, Pandya S, Freeze B, Torok J, Gupta A, Zeighami Y, Raj A. Origins of atrophy in Parkinson linked to early onset and local transcription patterns. Brain Communications. 2: fcaa065. PMID 32954322 DOI: 10.1093/braincomms/fcaa065   
2020 Wright GEB, Black HF, Collins JA, Gall-Duncan T, Caron NS, Pearson CE, Hayden MR. Interrupting sequence variants and age of onset in Huntington's disease: clinical implications and emerging therapies. The Lancet. Neurology. 19: 930-939. PMID 33098802 DOI: 10.1016/S1474-4422(20)30343-4   
2020 Zhu Q, Nguyen DT, Alyea G, Hanson K, Sid E, Pariser A. Phenotypically Similar Rare Disease Identification from an Integrative Knowledge Graph for Data Harmonization: Preliminary Study. Jmir Medical Informatics. 8: e18395. PMID 33006565 DOI: 10.2196/18395   
2020 Kim YA, Sarto Basso R, Wojtowicz D, Liu AS, Hochbaum DS, Vandin F, Przytycka TM. Identifying Drug Sensitivity Subnetworks with NETPHIX. Iscience. 23: 101619. PMID 33089107 DOI: 10.1016/j.isci.2020.101619   
2020 López-Isac E, Smith SL, Marion MC, Wood A, Sudman M, Yarwood A, Shi C, Gaddi VP, Martin P, Prahalad S, Eyre S, Orozco G, Morris AP, Langefeld CD, Thompson SD, et al. Combined genetic analysis of juvenile idiopathic arthritis clinical subtypes identifies novel risk loci, target genes and key regulatory mechanisms. Annals of the Rheumatic Diseases. PMID 33106285 DOI: 10.1136/annrheumdis-2020-218481