PubRank

Aravinda Chakravarti

Author PubWeight™ 466.15‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A second generation human haplotype map of over 3.1 million SNPs. Nature 2007 85.39
2 Finding the missing heritability of complex diseases. Nature 2009 67.95
3 Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008 19.71
4 Genome-wide detection and characterization of positive selection in human populations. Nature 2007 17.27
5 Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits. PLoS Genet 2007 14.99
6 Development of human protein reference database as an initial platform for approaching systems biology in humans. Genome Res 2003 14.79
7 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature 2011 13.25
8 Genome-wide association study of blood pressure and hypertension. Nat Genet 2009 11.54
9 Haplotype inference in random population samples. Am J Hum Genet 2002 8.07
10 Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet 2013 8.02
11 A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nat Genet 2006 6.39
12 Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies. Nat Genet 2004 5.78
13 A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet 2008 5.28
14 A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature 2005 4.92
15 A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009 4.76
16 Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci U S A 2005 4.64
17 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet 2009 4.28
18 Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet 2009 4.10
19 Common variants in KCNN3 are associated with lone atrial fibrillation. Nat Genet 2010 3.97
20 Genomic alterations in cultured human embryonic stem cells. Nat Genet 2005 3.89
21 Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. Nat Genet 2009 3.80
22 Genome-wide association study of PR interval. Nat Genet 2010 3.73
23 Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nat Genet 2012 3.71
24 Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet 2010 3.55
25 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet 2011 3.40
26 From the Cover: Whole-genome association study identifies STK39 as a hypertension susceptibility gene. Proc Natl Acad Sci U S A 2008 3.39
27 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. PLoS Genet 2011 3.07
28 Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet 2002 3.07
29 Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet 2013 2.92
30 Human embryonic stem cells have a unique epigenetic signature. Genome Res 2006 2.89
31 A genome-wide linkage analysis investigating the determinants of blood pressure in whites and African Americans. Am J Hypertens 2003 2.76
32 Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet 2002 2.74
33 Sequence variations in the public human genome data reflect a bottlenecked population history. Proc Natl Acad Sci U S A 2002 2.70
34 Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations. Circulation 2009 2.55
35 The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection. Genome Res 2004 2.54
36 Public stem cell banks: considerations of justice in stem cell research and therapy. Hastings Cent Rep 2004 2.53
37 Undetected genotyping errors cause apparent overtransmission of common alleles in the transmission/disequilibrium test. Am J Hum Genet 2003 2.51
38 Multiple genes for essential-hypertension susceptibility on chromosome 1q. Am J Hum Genet 2006 2.34
39 Differential susceptibility to hypertension is due to selection during the out-of-Africa expansion. PLoS Genet 2005 2.33
40 Associations between genetic variants in the NOS1AP (CAPON) gene and cardiac repolarization in the old order Amish. Hum Hered 2007 2.26
41 Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet 2010 2.12
42 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. Diabetes 2011 2.09
43 A BDNF coding variant is associated with the NEO personality inventory domain neuroticism, a risk factor for depression. Neuropsychopharmacology 2002 2.07
44 Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. PLoS Genet 2010 1.91
45 Identifying allelic loss and homozygous deletions in pancreatic cancer without matched normals using high-density single-nucleotide polymorphism arrays. Cancer Res 2006 1.89
46 Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study. Hum Mol Genet 2011 1.77
47 A multilevel model to address batch effects in copy number estimation using SNP arrays. Biostatistics 2010 1.76
48 Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome. J Am Coll Cardiol 2010 1.73
49 Discrepancies in dbSNP confirmation rates and allele frequency distributions from varying genotyping error rates and patterns. Bioinformatics 2004 1.72
50 Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis. Gastroenterology 2006 1.71
51 Haplotype and missing data inference in nuclear families. Genome Res 2004 1.69
52 Multiple loci are associated with white blood cell phenotypes. PLoS Genet 2011 1.65
53 Validation and extension of an empirical Bayes method for SNP calling on Affymetrix microarrays. Genome Biol 2008 1.61
54 Association of hypertension drug target genes with blood pressure and hypertension in 86,588 individuals. Hypertension 2011 1.60
55 Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained. PLoS Genet 2013 1.57
56 Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. Am J Hum Genet 2013 1.55
57 Combined admixture mapping and association analysis identifies a novel blood pressure genetic locus on 5p13: contributions from the CARe consortium. Hum Mol Genet 2011 1.54
58 Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer. Hum Mol Genet 2005 1.48
59 Population bottlenecks as a potential major shaping force of human genome architecture. PLoS Genet 2007 1.47
60 Replication of the Wellcome Trust genome-wide association study of essential hypertension: the Family Blood Pressure Program. Eur J Hum Genet 2008 1.45
61 Genomics in sudden cardiac death. Circ Res 2004 1.42
62 Drug-sensitized zebrafish screen identifies multiple genes, including GINS3, as regulators of myocardial repolarization. Circulation 2009 1.41
63 Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals. PLoS Genet 2011 1.38
64 Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb. Proc Natl Acad Sci U S A 2003 1.30
65 Loci influencing blood pressure identified using a cardiovascular gene-centric array. Hum Mol Genet 2013 1.27
66 A genome-wide scan for obesity in African-Americans. Diabetes 2002 1.25
67 Positional identification of hypertension susceptibility genes on chromosome 2. Hypertension 2004 1.25
68 Mendelian disorders and multifactorial traits: the big divide or one for all? Nat Rev Genet 2010 1.24
69 Estimating genome-wide copy number using allele-specific mixture models. J Comput Biol 2008 1.23
70 Positional identification of variants of Adamts16 linked to inherited hypertension. Hum Mol Genet 2009 1.21
71 Mitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degeneration. PLoS One 2009 1.19
72 Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model. Dev Biol 2013 1.15
73 Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. Eur J Hum Genet 2009 1.14
74 Next-generation sequencing of human mitochondrial reference genomes uncovers high heteroplasmy frequency. PLoS Comput Biol 2012 1.14
75 Linkage disequilibrium and haplotype diversity in the genes of the renin-angiotensin system: findings from the family blood pressure program. Genome Res 2003 1.13
76 Future of genetics of mood disorders research. Biol Psychiatry 2002 1.11
77 ViewGene: a graphical tool for polymorphism visualization and characterization. Genome Res 2002 1.11
78 Diabetes and the risk of sudden cardiac death, the Atherosclerosis Risk in Communities study. Acta Diabetol 2009 1.11
79 Associations between hypertension and genes in the renin-angiotensin system. Hypertension 2003 1.09
80 Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrest. PLoS One 2010 1.09
81 Multiple independent genetic factors at NOS1AP modulate the QT interval in a multi-ethnic population. PLoS One 2009 1.05
82 Genetic variation associated with circulating monocyte count in the eMERGE Network. Hum Mol Genet 2013 1.05
83 Exploring biologically relevant pathways in frailty. J Gerontol A Biol Sci Med Sci 2011 1.05
84 Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease. PLoS One 2011 1.02
85 On the probability that a novel variant is a disease-causing mutation. Genome Res 2005 1.02
86 Understanding cardiovascular disease through the lens of genome-wide association studies. Trends Genet 2009 1.02
87 Genetics and genomics for the prevention and treatment of cardiovascular disease: update: a scientific statement from the American Heart Association. Circulation 2013 1.01
88 The gene for soluble N-ethylmaleimide sensitive factor attachment protein alpha is mutated in hydrocephaly with hop gait (hyh) mice. Proc Natl Acad Sci U S A 2004 1.00
89 Mining gold dust under the genome wide significance level: a two-stage approach to analysis of GWAS. Genet Epidemiol 2010 0.99
90 Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer. Hum Mutat 2011 0.98
91 Allele-specific expression in the germline of patients with familial pancreatic cancer: an unbiased approach to cancer gene discovery. Cancer Biol Ther 2007 0.98
92 Safety issues in cell-based intervention trials. Fertil Steril 2003 0.96
93 Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence. Proc Natl Acad Sci U S A 2005 0.95
94 Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association. Hum Mutat 2009 0.94
95 The impact of data quality on the identification of complex disease genes: experience from the Family Blood Pressure Program. Eur J Hum Genet 2006 0.93
96 An ancestral variant of Secretogranin II confers regulation by PHOX2 transcription factors and association with hypertension. Hum Mol Genet 2007 0.92
97 Variation in the ciliary neurotrophic factor gene and muscle strength in older Caucasian women. J Am Geriatr Soc 2006 0.92
98 Hemostasis, inflammation, and fatal and nonfatal coronary heart disease: long-term follow-up of the atherosclerosis risk in communities (ARIC) cohort. Arterioscler Thromb Vasc Biol 2009 0.92
99 An evaluation of the assembly of an approximately 15-Mb region on human chromosome 13q32-q33 linked to bipolar disorder and schizophrenia. Genomics 2002 0.91
100 Pathways systematically associated to Hirschsprung's disease. Orphanet J Rare Dis 2013 0.90
101 Genomics is not enough. Science 2011 0.90
102 Parent-of-origin effects in autism identified through genome-wide linkage analysis of 16,000 SNPs. PLoS One 2010 0.89
103 Finding needles in haystacks--IRF6 gene variants in isolated cleft lip or cleft palate. N Engl J Med 2004 0.89
104 A trisomic transmission disequilibrium test. Genet Epidemiol 2004 0.86
105 Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease. PLoS One 2013 0.86
106 Haplotype association analysis of AGT variants with hypertension-related traits: the HyperGEN study. Hum Hered 2005 0.86
107 Effects of rare and common blood pressure gene variants on essential hypertension: results from the Family Blood Pressure Program, CLUE, and Atherosclerosis Risk in Communities studies. Circ Res 2012 0.86
108 A population association study of angiotensinogen polymorphisms and haplotypes with left ventricular phenotypes. Hypertension 2005 0.86
109 Evidence for a gene influencing heart rate on chromosome 5p13-14 in a meta-analysis of genome-wide scans from the NHLBI Family Blood Pressure Program. BMC Med Genet 2006 0.85
110 Five blood pressure loci identified by an updated genome-wide linkage scan: meta-analysis of the Family Blood Pressure Program. Am J Hypertens 2010 0.85
111 Human genetics: Tracing India's invisible threads. Nature 2009 0.85
112 An investigation of genome-wide associations of hypertension with microsatellite markers in the family blood pressure program (FBPP). Hum Genet 2007 0.84
113 Erythrocyte sodium-lithium countertransport and blood pressure: a genome-wide linkage study. Hypertension 2002 0.84
114 Quantifying and modeling birth order effects in autism. PLoS One 2011 0.83
115 Copy number polymorphisms near SLC2A9 are associated with serum uric acid concentrations. BMC Genet 2014 0.83
116 Defining the contribution of CNTNAP2 to autism susceptibility. PLoS One 2013 0.83
117 Cloning of rat thymic stromal lymphopoietin receptor (TSLPR) and characterization of genomic structure of murine Tslpr gene. Gene 2002 0.82
118 Chronic constipation due to Hirschsprung's disease and desmosis coli in a family. Pediatr Surg Int 2002 0.81
119 Polymorphisms in the mitochondrial DNA control region and frailty in older adults. PLoS One 2010 0.81
120 Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation. Am J Med Genet 2002 0.79
121 Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. Circ Cardiovasc Genet 2015 0.79
122 SNPs and other features as they predispose to complex disease: genome-wide predictive analysis of a quantitative phenotype for hypertension. PLoS One 2011 0.79
123 High incidence of deafness from three frequent connexin 26 mutations in an isolated community. Genet Test 2006 0.78
124 Origin and expansion of four different beta globin mutations in a single Arab village. Am J Hum Biol 2005 0.78
125 Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease. Eur J Hum Genet 2012 0.78
126 Segregation analysis of blood pressure and body mass index in a rural US community. Hum Biol 2002 0.77
127 Associations between NOS1AP single nucleotide polymorphisms (SNPs) and QT interval duration in four racial/ethnic groups in the Multi-Ethnic Study of Atherosclerosis (MESA). Ann Noninvasive Electrocardiol 2013 0.77
128 Variation in the checkpoint kinase 2 gene is associated with type 2 diabetes in multiple populations. Acta Diabetol 2009 0.76
129 Generation of a cre recombinase-conditional Nos1ap over-expression transgenic mouse. Biotechnol Lett 2014 0.76
130 Rare coding variants associated with blood pressure variation in 15 914 individuals of African ancestry. J Hypertens 2017 0.75
131 The association of cell cycle checkpoint 2 variants and kidney function: findings of the Family Blood Pressure Program and the Atherosclerosis Risk In Communities study. Am J Hypertens 2009 0.75
132 Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. PLoS Genet 2016 0.75
133 Hybrids of aneuploid human cancer cells permit complementation of simple and complex cancer defects. Cancer Biol Ther 2009 0.75
134 A polymorphic 3'UTR element in ATP1B1 regulates alternative polyadenylation and is associated with blood pressure. PLoS One 2013 0.75
135 Planning the genome institute's future. Science 2003 0.75
136 The role of rare variants in systolic blood pressure: analysis of ExomeChip data in HyperGEN African Americans. Hum Hered 2015 0.75
137 Corrigendum: Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. Nat Genet 2017 0.75
138 Genetics of disease. Curr Opin Genet Dev 2008 0.75
139 Massively parallel rare disease genetics. Genome Med 2011 0.75