PubRank

Deborah A Nickerson

Author PubWeight™ 491.56‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009 33.96
2 Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2009 32.06
3 Mapping and sequencing of structural variation from eight human genomes. Nature 2008 30.28
4 Biological, clinical and population relevance of 95 loci for blood lipids. Nature 2010 28.21
5 Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet 2003 21.52
6 Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 2012 17.12
7 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 2012 14.76
8 Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 2011 14.29
9 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010 12.63
10 Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 2011 11.94
11 Automating sequence-based detection and genotyping of SNPs from diploid samples. Nat Genet 2006 9.04
12 Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature 2012 8.91
13 Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N Engl J Med 2005 8.77
14 Mapping complex disease loci in whole-genome association studies. Nature 2004 7.31
15 Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One 2008 7.16
16 Population history and natural selection shape patterns of genetic variation in 132 genes. PLoS Biol 2004 7.11
17 Evidence for substantial fine-scale variation in recombination rates across the human genome. Nat Genet 2004 6.99
18 Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 2009 6.79
19 Massively parallel exon capture and library-free resequencing across 16 genomes. Nat Methods 2009 6.36
20 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 2012 6.21
21 Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. Am J Hum Genet 2012 5.48
22 Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med 2014 5.47
23 Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans. Nat Genet 2003 5.30
24 Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med 2014 4.94
25 Genomic regions exhibiting positive selection identified from dense genotype data. Genome Res 2005 4.81
26 Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat Genet 2008 4.53
27 Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nat Methods 2010 4.51
28 Copy number variation detection and genotyping from exome sequence data. Genome Res 2012 4.44
29 Completing the map of human genetic variation. Nature 2007 4.38
30 Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet 2013 4.06
31 Pattern of sequence variation across 213 environmental response genes. Genome Res 2004 3.93
32 Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations. Am J Hum Genet 2004 3.91
33 Mutational and selective effects on copy-number variants in the human genome. Nat Genet 2007 3.82
34 Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes. Hum Mol Genet 2004 3.73
35 Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. Am J Hum Genet 2008 3.61
36 Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers. Proc Natl Acad Sci U S A 2011 3.54
37 Genetic ancestry in lung-function predictions. N Engl J Med 2010 3.30
38 Massively parallel sequencing and rare disease. Hum Mol Genet 2010 3.28
39 Association of polymorphisms in the CRP gene with circulating C-reactive protein levels and cardiovascular events. JAMA 2006 3.26
40 Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet 2012 3.21
41 Somatic mutations in cerebral cortical malformations. N Engl J Med 2014 3.13
42 The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A 2012 3.12
43 De novo rates and selection of large copy number variation. Genome Res 2010 3.08
44 Phenotypic predictors of response to simvastatin therapy among African-Americans and Caucasians: the Cholesterol and Pharmacogenetics (CAP) Study. Am J Cardiol 2006 2.94
45 Estimating coverage and power for genetic association studies using near-complete variation data. Nat Genet 2008 2.80
46 Polymorphisms within the C-reactive protein (CRP) promoter region are associated with plasma CRP levels. Am J Hum Genet 2005 2.71
47 Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue. PLoS Genet 2011 2.68
48 Toll-like receptor 1 polymorphisms affect innate immune responses and outcomes in sepsis. Am J Respir Crit Care Med 2008 2.64
49 Automating resequencing-based detection of insertion-deletion polymorphisms. Nat Genet 2006 2.61
50 TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet 2012 2.50
51 A statin-dependent QTL for GATM expression is associated with statin-induced myopathy. Nature 2013 2.46
52 Genome-wide association of lipid-lowering response to statins in combined study populations. PLoS One 2010 2.43
53 Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Am J Hum Genet 2011 2.38
54 A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Res 2009 2.29
55 Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Nat Genet 2012 2.14
56 The patterns of natural variation in human genes. Annu Rev Genomics Hum Genet 2005 2.12
57 Genetic variation is associated with C-reactive protein levels in the Third National Health and Nutrition Examination Survey. Circulation 2006 2.00
58 Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res 2011 1.93
59 Methods for genomic partitioning. Annu Rev Genomics Hum Genet 2009 1.93
60 Genetic ancestry, population sub-structure, and cardiovascular disease-related traits among African-American participants in the CARDIA Study. Hum Genet 2007 1.91
61 Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication. Circ Cardiovasc Genet 2008 1.89
62 Definition and clinical importance of haplotypes. Annu Rev Med 2005 1.79
63 Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era. Circ Cardiovasc Genet 2012 1.78
64 Linkage disequilibrium in wild mice. PLoS Genet 2007 1.70
65 Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project. Blood 2013 1.69
66 Variation in the 3-hydroxyl-3-methylglutaryl coenzyme a reductase gene is associated with racial differences in low-density lipoprotein cholesterol response to simvastatin treatment. Circulation 2008 1.68
67 Efficient selection of tagging single-nucleotide polymorphisms in multiple populations. Hum Genet 2006 1.66
68 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Am J Hum Genet 2012 1.65
69 Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet 2012 1.63
70 High-throughput genotyping of intermediate-size structural variation. Hum Mol Genet 2006 1.61
71 Tracing sub-structure in the European American population with PCA-informative markers. PLoS Genet 2008 1.56
72 Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet 2012 1.53
73 Exome sequencing in suspected monogenic dyslipidemias. Circ Cardiovasc Genet 2015 1.51
74 Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Arch Neurol 2012 1.46
75 Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet 2012 1.46
76 Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A 2011 1.43
77 Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet 2013 1.40
78 Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6q. J Lipid Res 2009 1.34
79 Polymorphisms of the IL1-receptor antagonist gene (IL1RN) are associated with multiple markers of systemic inflammation. Arterioscler Thromb Vasc Biol 2008 1.32
80 Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy. Circ Cardiovasc Genet 2013 1.30
81 Allele frequency matching between SNPs reveals an excess of linkage disequilibrium in genic regions of the human genome. PLoS Genet 2006 1.27
82 Positioning a medical school for modern biomedical research: the department of genome sciences at the University of Washington School of Medicine. Acad Med 2006 1.27
83 Contributions of 18 additional DNA sequence variations in the gene encoding apolipoprotein E to explaining variation in quantitative measures of lipid metabolism. Am J Hum Genet 2002 1.22
84 Combined influence of LDLR and HMGCR sequence variation on lipid-lowering response to simvastatin. Arterioscler Thromb Vasc Biol 2010 1.19
85 Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Am J Hum Genet 2013 1.19
86 Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. Am J Hum Genet 2013 1.18
87 Novel paraoxonase (PON1) nonsense and missense mutations predicted by functional genomic assay of PON1 status. Pharmacogenetics 2003 1.14
88 Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med 2014 1.14
89 Direct detection of null alleles in SNP genotyping data. Hum Mol Genet 2006 1.12
90 Targeted enrichment of specific regions in the human genome by array hybridization. Curr Protoc Hum Genet 2010 1.11
91 The effects of scale: variation in the APOA1/C3/A4/A5 gene cluster. Hum Genet 2004 1.07
92 A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. Am J Hum Genet 2012 1.07
93 Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families. Anesthesiology 2013 1.06
94 Imputation of coding variants in African Americans: better performance using data from the exome sequencing project. Bioinformatics 2013 1.05
95 A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration. PLoS One 2011 1.05
96 Association of apolipoprotein A5 variants with LDL particle size and triglyceride in Japanese Americans. Biochim Biophys Acta 2004 1.05
97 Soluble P-selectin, SELP polymorphisms, and atherosclerotic risk in European-American and African-African young adults: the Coronary Artery Risk Development in Young Adults (CARDIA) Study. Arterioscler Thromb Vasc Biol 2008 1.05
98 Mutations in ECEL1 cause distal arthrogryposis type 5D. Am J Hum Genet 2012 1.04
99 Utilizing graph theory to select the largest set of unrelated individuals for genetic analysis. Genet Epidemiol 2012 1.04
100 Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. Am J Hum Genet 2013 1.03
101 "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype. Am J Med Genet A 2012 1.02
102 Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset. Hum Mol Genet 2013 1.00
103 A common VLDLR polymorphism interacts with APOE genotype in the prediction of carotid artery disease risk. J Lipid Res 2007 0.99
104 PGRNseq: a targeted capture sequencing panel for pharmacogenetic research and implementation. Pharmacogenet Genomics 2016 0.96
105 Common coding variants of the HNF1A gene are associated with multiple cardiovascular risk phenotypes in community-based samples of younger and older European-American adults: the Coronary Artery Risk Development in Young Adults Study and The Cardiovascular Health Study. Circ Cardiovasc Genet 2009 0.96
106 Integrating host genomics with surveillance for invasive bacterial diseases. Emerg Infect Dis 2008 0.95
107 Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). Hum Mol Genet 2013 0.95
108 TagSNP evaluation for the association of 42 inflammation loci and vascular disease: evidence of IL6, FGB, ALOX5, NFKBIA, and IL4R loci effects. Hum Genet 2006 0.95
109 Mutations in KCTD1 cause scalp-ear-nipple syndrome. Am J Hum Genet 2013 0.94
110 Sequence polymorphism at the human apolipoprotein AII gene ( APOA2): unexpected deficit of variation in an African-American sample. Hum Genet 2002 0.93
111 Massively parallel sequencing: the new frontier of hematologic genomics. Blood 2013 0.93
112 USF1 gene variants, cardiovascular risk, and mortality in European Americans: analysis of two US cohort studies. Arterioscler Thromb Vasc Biol 2007 0.92
113 A variational Bayes discrete mixture test for rare variant association. Genet Epidemiol 2014 0.92
114 Linkage and association of phospholipid transfer protein activity to LASS4. J Lipid Res 2011 0.91
115 The environmental genome project: reference polymorphisms for drug metabolism genes and genome-wide association studies. Drug Metab Rev 2008 0.91
116 Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia. Am J Hum Genet 2013 0.87
117 Genetic and nongenetic sources of variation in phospholipid transfer protein activity. J Lipid Res 2009 0.87
118 Targeted interrogation of copy number variation using SCIMMkit. Bioinformatics 2009 0.86
119 Allelic spectrum of the natural variation in CRP. Hum Genet 2006 0.86
120 Variation in LPA is associated with Lp(a) levels in three populations from the Third National Health and Nutrition Examination Survey. PLoS One 2011 0.86
121 Results of genome-wide analyses on neurodevelopmental phenotypes at four-year follow-up following cardiac surgery in infancy. PLoS One 2012 0.86
122 A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. Hum Mol Genet 2013 0.85
123 LPA and PLG sequence variation and kringle IV-2 copy number in two populations. Hum Hered 2008 0.85
124 Mutation of ATF6 causes autosomal recessive achromatopsia. Hum Genet 2015 0.84
125 Mitochondrial genetic variants and Alzheimer disease: a case-control study of the T4336C and G5460A variants. Alzheimer Dis Assoc Disord 2002 0.84
126 Novel common and rare genetic determinants of paraoxonase activity: FTO, SERPINA12, and ITGAL. J Lipid Res 2012 0.83
127 Sequence diversity, natural selection and linkage disequilibrium in the human T cell receptor alpha/delta locus. Hum Genet 2006 0.83
128 Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1. Am J Med Genet A 2014 0.83
129 Sequence variation in the human T-cell receptor loci. Immunol Rev 2002 0.82
130 Evidence for involvement of GNB1L in autism. Am J Med Genet B Neuropsychiatr Genet 2011 0.80
131 Comment on 'Discrepancies in dbSNP confirmations rates and allele frequency distributions from varying genotyping error rates and patterns'. Bioinformatics 2004 0.79
132 TCIRG1-associated congenital neutropenia. Hum Mutat 2014 0.79
133 Sequence-based linkage analysis. Am J Hum Genet 2004 0.78
134 Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet 2016 0.77
135 Common genetic variation in the prothrombin gene, hormone therapy, and incident nonfatal myocardial infarction in postmenopausal women. Am J Epidemiol 2006 0.76
136 Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection. J Am Coll Cardiol 2017 0.75