Kevin V Shianna

Author PubWeight™ 201.78‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance. Nature 2009 26.47
2 Large recurrent microdeletions associated with schizophrenia. Nature 2008 20.25
3 A whole-genome association study of major determinants for host control of HIV-1. Science 2007 15.19
4 Common variants conferring risk of schizophrenia. Nature 2009 10.37
5 A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci. PLoS Genet 2009 6.93
6 Interleukin-28B polymorphism improves viral kinetics and is the strongest pretreatment predictor of sustained virologic response in genotype 1 hepatitis C virus. Gastroenterology 2010 6.14
7 Tissue-specific genetic control of splicing: implications for the study of complex traits. PLoS Biol 2008 5.08
8 A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet 2009 5.01
9 ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. Nature 2010 4.64
10 Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genet 2010 4.29
11 HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. N Engl J Med 2011 3.93
12 Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders. Proc Natl Acad Sci U S A 2010 3.78
13 The characterization of twenty sequenced human genomes. PLoS Genet 2010 3.72
14 Common genetic variation and the control of HIV-1 in humans. PLoS Genet 2009 3.68
15 IL28B genotype is associated with differential expression of intrahepatic interferon-stimulated genes in patients with chronic hepatitis C. Hepatology 2010 3.57
16 Clinical application of exome sequencing in undiagnosed genetic conditions. J Med Genet 2012 3.33
17 Long-range LD can confound genome scans in admixed populations. Am J Hum Genet 2008 3.06
18 Hepatitis C pharmacogenetics: state of the art in 2010. Hepatology 2011 2.99
19 Host determinants of HIV-1 control in African Americans. J Infect Dis 2010 2.90
20 Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. Lancet Neurol 2007 2.88
21 An IL28B polymorphism determines treatment response of hepatitis C virus genotype 2 or 3 patients who do not achieve a rapid virologic response. Gastroenterology 2010 2.87
22 A polymorphism near IL28B is associated with spontaneous clearance of acute hepatitis C virus and jaundice. Gastroenterology 2010 2.78
23 Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet 2010 2.61
24 Evidence of dysregulation of dendritic cells in primary HIV infection. Blood 2010 2.39
25 Geographical genomics of human leukocyte gene expression variation in southern Morocco. Nat Genet 2009 2.38
26 De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet 2012 2.34
27 SVA: software for annotating and visualizing sequenced human genomes. Bioinformatics 2011 2.11
28 Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med 2012 2.08
29 Screening the human exome: a comparison of whole genome and whole transcriptome sequencing. Genome Biol 2010 2.00
30 Association of a single nucleotide polymorphism near the interleukin-28B gene with response to hepatitis C therapy in HIV/hepatitis C virus-coinfected patients. AIDS 2010 1.99
31 Genome-wide mRNA expression correlates of viral control in CD4+ T-cells from HIV-1-infected individuals. PLoS Pathog 2010 1.90
32 Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia and decrease the need for ribavirin dose reduction. Gastroenterology 2010 1.74
33 CCL3L1 and HIV/AIDS susceptibility. Nat Med 2009 1.73
34 Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy. Am J Hum Genet 2012 1.72
35 A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. Hum Mol Genet 2009 1.71
36 Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. Brain 2010 1.67
37 Tibetans living at sea level have a hyporesponsive hypoxia-inducible factor system and blunted physiological responses to hypoxia. J Appl Physiol (1985) 2013 1.64
38 Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet 2012 1.60
39 Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients. J Hepatol 2011 1.59
40 A genome-wide comparison of the functional properties of rare and common genetic variants in humans. Am J Hum Genet 2011 1.56
41 Quantitation of pretreatment serum interferon-γ-inducible protein-10 improves the predictive value of an IL28B gene polymorphism for hepatitis C treatment response. Hepatology 2011 1.53
42 Inosine triphosphate protects against ribavirin-induced adenosine triphosphate loss by adenylosuccinate synthase function. Gastroenterology 2011 1.52
43 Single nucleotide polymorphism upstream of interleukin 28B associated with phase 1 and phase 2 of early viral kinetics in patients infected with HCV genotype 1. J Hepatol 2011 1.47
44 Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia. Am J Hum Genet 2012 1.47
45 Copy number variation of KIR genes influences HIV-1 control. PLoS Biol 2011 1.44
46 Exome sequencing: the expert view. Genome Biol 2011 1.37
47 Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population. AIDS 2011 1.33
48 Using ERDS to infer copy-number variants in high-coverage genomes. Am J Hum Genet 2012 1.22
49 Limited contribution of common genetic variants to risk for liver injury due to a variety of drugs. Pharmacogenet Genomics 2012 1.21
50 Host genetic determinants of T cell responses to the MRKAd5 HIV-1 gag/pol/nef vaccine in the step trial. J Infect Dis 2011 1.20
51 Nucleolar proteins suppress Caenorhabditis elegans innate immunity by inhibiting p53/CEP-1. PLoS Genet 2009 1.15
52 Inosine triphosphatase genetic variants are protective against anemia during antiviral therapy for HCV2/3 but do not decrease dose reductions of RBV or increase SVR. Hepatology 2011 1.10
53 Host genetics and HIV-1: the final phase? PLoS Pathog 2010 1.06
54 A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A. Hum Mol Genet 2013 1.05
55 Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. Am J Hum Genet 2012 0.99
56 Large-scale pathways-based association study in amyotrophic lateral sclerosis. Brain 2007 0.98
57 Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium. Am J Hum Genet 2012 0.94
58 Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia in HIV/HCV-coinfected patients with all HCV genotypes. J Infect Dis 2011 0.92
59 The Duffy antigen receptor for chemokines null promoter variant does not influence HIV-1 acquisition or disease progression. Cell Host Microbe 2009 0.92
60 Host genetics of HIV acquisition and viral control. Annu Rev Med 2012 0.87
61 A polymorphism in the HCP5 gene associated with HLA-B*5701 does not restrict HIV-1 in vitro. AIDS 2010 0.87
62 High-throughput isolation and mapping of C. elegans mutants susceptible to pathogen infection. PLoS One 2008 0.83
63 Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions. Pharmacogenomics 2012 0.81
64 Alpha-nicotinic acetylcholine receptor and tobacco smoke exposure: effects on bronchial hyperresponsiveness in children. Pediatr Allergy Immunol 2011 0.80
65 Human genomics: in search of normality. Nature 2006 0.79
66 A whole-genome analysis of premature termination codons. Genomics 2011 0.75