Published in Genome Res on December 14, 2005
Study Of PHarmacogenetics in Ethnically Diverse Populations (SOPHIE Study) (SOPHIE) | NCT00187668
Effect of genetic variation in the organic cation transporter 1 (OCT1) on metformin action. J Clin Invest (2007) 4.47
The pharmacogenetics research network: from SNP discovery to clinical drug response. Clin Pharmacol Ther (2007) 2.18
Pharmacogenomic discovery using cell-based models. Pharmacol Rev (2009) 1.96
OATPs, OATs and OCTs: the organic anion and cation transporters of the SLCO and SLC22A gene superfamilies. Br J Pharmacol (2012) 1.74
Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations. Proc Natl Acad Sci U S A (2008) 1.47
Human genetic variation recognizes functional elements in noncoding sequence. Genome Res (2009) 1.33
Creating and evaluating genetic tests predictive of drug response. Nat Rev Drug Discov (2008) 1.24
Genetic variants in multidrug and toxic compound extrusion-1, hMATE1, alter transport function. Pharmacogenomics J (2009) 1.18
A Dual Model for Prioritizing Cancer Mutations in the Non-coding Genome Based on Germline and Somatic Events. PLoS Comput Biol (2015) 1.07
Novel variants in human Aquaporin-4 reduce cellular water permeability. Hum Mol Genet (2008) 1.04
The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology. Clin Pharmacol Ther (2009) 1.01
Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency. Clin Genet (2011) 0.99
Methods to evaluate biliary excretion of drugs in humans: an updated review. Mol Pharm (2006) 0.98
Identification and characterization of proximal promoter polymorphisms in the human concentrative nucleoside transporter 2 (SLC28A2). J Pharmacol Exp Ther (2008) 0.94
Trichloroethylene: Mechanistic, epidemiologic and other supporting evidence of carcinogenic hazard. Pharmacol Ther (2013) 0.91
Trichloroethylene biotransformation and its role in mutagenicity, carcinogenicity and target organ toxicity. Mutat Res Rev Mutat Res (2015) 0.85
Genetic variation in drug transporters in ethnic populations. Clin Pharmacol Ther (2008) 0.82
Genetic variants of human organic anion transporter 4 demonstrate altered transport of endogenous substrates. Am J Physiol Renal Physiol (2010) 0.81
Institutional Profile: The University of California Pharmacogenomics Center: at the interface of genomics, biological mechanisms and drug therapy. Pharmacogenomics (2009) 0.80
Pharmacogenomics of membrane transporters: past, present and future. Pharmacogenomics (2010) 0.80
Global genetic analyses reveal strong inter-ethnic variability in the loss of activity of the organic cation transporter OCT1. Genome Med (2015) 0.75
Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics (1989) 73.50
SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res (2003) 52.26
Human non-synonymous SNPs: server and survey. Nucleic Acids Res (2002) 50.45
Predicting deleterious amino acid substitutions. Genome Res (2001) 28.95
Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet (1999) 24.24
Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science (2004) 21.65
Prediction of deleterious human alleles. Hum Mol Genet (2001) 21.00
Searching for genetic determinants in the new millennium. Nature (2000) 17.50
Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet (1999) 17.09
A comprehensive review of genetic association studies. Genet Med (2002) 16.75
Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science (2001) 15.54
Amino acid difference formula to help explain protein evolution. Science (1974) 15.19
Accounting for human polymorphisms predicted to affect protein function. Genome Res (2002) 14.10
Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat Genet (2003) 13.60
Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation. J Mol Biol (2001) 9.18
Haplotype variation and linkage disequilibrium in 313 human genes. Science (2001) 8.52
Positive and negative selection on the human genome. Genetics (2001) 7.25
SNPs, protein structure, and disease. Hum Mutat (2001) 6.14
Natural variation in human membrane transporter genes reveals evolutionary and functional constraints. Proc Natl Acad Sci U S A (2003) 5.77
Towards a structural basis of human non-synonymous single nucleotide polymorphisms. Trends Genet (2000) 5.41
Categorization of humans in biomedical research: genes, race and disease. Genome Biol (2002) 4.84
A frameshift mutation in human MC4R is associated with a dominant form of obesity. Nat Genet (1998) 4.13
A frameshift mutation in MC4R associated with dominantly inherited human obesity. Nat Genet (1998) 4.06
Understanding human disease mutations through the use of interspecific genetic variation. Hum Mol Genet (2001) 3.95
Characterization of the common genetic defect in humans deficient in debrisoquine metabolism. Nature (1988) 3.69
PHAT: a transmembrane-specific substitution matrix. Predicted hydrophobic and transmembrane. Bioinformatics (2000) 3.66
Quantitative estimates of sequence divergence for comparative analyses of mammalian genomes. Genome Res (2003) 3.52
Once and again-issues surrounding replication in genetic association studies. J Clin Endocrinol Metab (2002) 2.35
Evolutionary conservation predicts function of variants of the human organic cation transporter, OCT1. Proc Natl Acad Sci U S A (2003) 2.03
Polymorphisms in a human kidney xenobiotic transporter, OCT2, exhibit altered function. Pharmacogenetics (2002) 1.57
Non-symmetric score matrices and the detection of homologous transmembrane proteins. Bioinformatics (2001) 1.56
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet (2002) 1.51
Genetic variants of human serum cholinesterase influence metabolism of the muscle relaxant succinylcholine. Pharmacol Ther (1990) 1.15
GLUT1 deficiency and other glucose transporter diseases. Eur J Endocrinol (2004) 1.12
Impact of selection, mutation rate and genetic drift on human genetic variation. Hum Mol Genet (2003) 1.03
Functional characterization in yeast of genetic variants in the human equilibrative nucleoside transporter, ENT1. Pharmacogenetics (2003) 1.01
Functional and genetic diversity in the concentrative nucleoside transporter, CNT1, in human populations. Mol Pharmacol (2004) 0.99
Functional analysis of polymorphisms in the organic anion transporter, SLC22A6 (OAT1). Pharmacogenet Genomics (2005) 0.98
Genetic analysis and functional characterization of polymorphisms in the human concentrative nucleoside transporter, CNT2. Pharmacogenet Genomics (2005) 0.86
Functional analysis of genetic variants in the human concentrative nucleoside transporter 3 (CNT3; SLC28A3). Pharmacogenomics J (2005) 0.86
Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat Genet (2003) 13.60
Membrane transporters in drug development. Nat Rev Drug Discov (2010) 8.56
The importance of race and ethnic background in biomedical research and clinical practice. N Engl J Med (2003) 7.94
Genetic heritability and shared environmental factors among twin pairs with autism. Arch Gen Psychiatry (2011) 6.98
Admixture mapping for hypertension loci with genome-scan markers. Nat Genet (2005) 6.78
Reconstructing genetic ancestry blocks in admixed individuals. Am J Hum Genet (2006) 5.92
Natural variation in human membrane transporter genes reveals evolutionary and functional constraints. Proc Natl Acad Sci U S A (2003) 5.77
Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthiocarbamide. Science (2003) 4.48
Effect of genetic variation in the organic cation transporter 1 (OCT1) on metformin action. J Clin Invest (2007) 4.47
LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. N Engl J Med (2006) 3.90
A highly significant association between a COMT haplotype and schizophrenia. Am J Hum Genet (2002) 3.52
Latino populations: a unique opportunity for the study of race, genetics, and social environment in epidemiological research. Am J Public Health (2005) 3.50
Parent-of-origin effect in multiple sclerosis: observations in half-siblings. Lancet (2004) 3.47
Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat Genet (2009) 3.33
Population stratification confounds genetic association studies among Latinos. Hum Genet (2005) 3.19
Homozygosity and linkage disequilibrium. Genetics (2002) 3.04
Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study. Hum Mol Genet (2008) 2.71
Genomic priorities and public health. Science (2003) 2.69
Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition. Genome Res (2011) 2.52
Organic cation transporters are determinants of oxaliplatin cytotoxicity. Cancer Res (2006) 2.37
Identifying genetic risk factors for serious adverse drug reactions: current progress and challenges. Nat Rev Drug Discov (2007) 2.32
Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array. Genomics (2011) 2.31
Complex interactions among MHC haplotypes in multiple sclerosis: susceptibility and resistance. Hum Mol Genet (2005) 2.26
Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects. J Clin Oncol (2009) 2.20
Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies. J Am Coll Cardiol (2010) 2.17
Will the genomics revolution revolutionize psychiatry? Am J Psychiatry (2003) 2.11
The concentrative nucleoside transporter family, SLC28. Pflugers Arch (2003) 2.06
Evolutionary conservation predicts function of variants of the human organic cation transporter, OCT1. Proc Natl Acad Sci U S A (2003) 2.03
Global transcriptional response to interferon is a determinant of HCV treatment outcome and is modified by race. Hepatology (2006) 2.03
Characterizing the admixed African ancestry of African Americans. Genome Biol (2009) 2.01
Racial admixture and its impact on BMI and blood pressure in African and Mexican Americans. Hum Genet (2006) 1.98
Pharmacogenomics: challenges and opportunities. Ann Intern Med (2006) 1.96
Estimating kinship in admixed populations. Am J Hum Genet (2012) 1.95
Engineering human IgG1 affinity to human neonatal Fc receptor: impact of affinity improvement on pharmacokinetics in primates. J Immunol (2009) 1.93
Ancestry-related assortative mating in Latino populations. Genome Biol (2009) 1.79
Sequence diversity and haplotype structure in the human ABCB1 (MDR1, multidrug resistance transporter) gene. Pharmacogenetics (2003) 1.79
Admixture mapping and the role of population structure for localizing disease genes. Adv Genet (2008) 1.76
Behavioral phenotypic variation in autism multiplex families: evidence for a continuous severity gradient. Am J Med Genet (2002) 1.71
Common variants in P2RY11 are associated with narcolepsy. Nat Genet (2010) 1.65
Assessing genetic contributions to phenotypic differences among 'racial' and 'ethnic' groups. Nat Genet (2004) 1.62
cis-Diammine(pyridine)chloroplatinum(II), a monofunctional platinum(II) antitumor agent: Uptake, structure, function, and prospects. Proc Natl Acad Sci U S A (2008) 1.62
Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites. Am J Med Genet A (2007) 1.61
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. Am J Med Genet A (2004) 1.59
Polymorphisms in a human kidney xenobiotic transporter, OCT2, exhibit altered function. Pharmacogenetics (2002) 1.57
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet (2003) 1.57
History shaped the geographic distribution of genomic admixture on the island of Puerto Rico. PLoS One (2011) 1.50
Ethnicity and human genetic linkage maps. Am J Hum Genet (2004) 1.50
Role of organic cation transporter 3 (SLC22A3) and its missense variants in the pharmacologic action of metformin. Pharmacogenet Genomics (2010) 1.48
Transport of drugs in the kidney by the human organic cation transporter, OCT2 and its genetic variants. J Pharm Sci (2006) 1.48
Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations. Proc Natl Acad Sci U S A (2008) 1.47
Effect of genetic variation in the organic cation transporter 2 on the renal elimination of metformin. Pharmacogenet Genomics (2009) 1.46
A polymorphism in the beta1 adrenergic receptor is associated with resting heart rate. Am J Hum Genet (2002) 1.46
On the twin risk in autism. Am J Hum Genet (2002) 1.40
Dropped genetics paper lacked scientific merit. Nature (2002) 1.39
Interaction of methotrexate with organic-anion transporting polypeptide 1A2 and its genetic variants. J Pharmacol Exp Ther (2006) 1.38
Metformin pathways: pharmacokinetics and pharmacodynamics. Pharmacogenet Genomics (2012) 1.38
Interactions of tyrosine kinase inhibitors with organic cation transporters and multidrug and toxic compound extrusion proteins. Mol Cancer Ther (2011) 1.35
Transport of paraquat by human organic cation transporters and multidrug and toxic compound extrusion family. J Pharmacol Exp Ther (2007) 1.33
Human genetic variation recognizes functional elements in noncoding sequence. Genome Res (2009) 1.33
The epilepsy phenome/genome project. Clin Trials (2013) 1.32
Profiling of a prescription drug library for potential renal drug-drug interactions mediated by the organic cation transporter 2. J Med Chem (2011) 1.30
Renal transporters in drug development. Annu Rev Pharmacol Toxicol (2012) 1.30
Comparison of human solute carriers. Protein Sci (2010) 1.29
Estimating the contribution of genes and environment to variation in renal drug clearance. Pharmacogenetics (2003) 1.29
Structure-based discovery of prescription drugs that interact with the norepinephrine transporter, NET. Proc Natl Acad Sci U S A (2011) 1.29
A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303. Clin Cancer Res (2011) 1.26
Creating and evaluating genetic tests predictive of drug response. Nat Rev Drug Discov (2008) 1.24
Interactions of n-tetraalkylammonium compounds and biguanides with a human renal organic cation transporter (hOCT2). Pharm Res (2002) 1.24
Differences in albuminuria between Hispanics and whites: an evaluation by genetic ancestry and country of origin: the multi-ethnic study of atherosclerosis. Circ Cardiovasc Genet (2010) 1.23
The human multidrug resistance protein 4 (MRP4, ABCC4): functional analysis of a highly polymorphic gene. J Pharmacol Exp Ther (2008) 1.23
Dissecting racial and ethnic differences. N Engl J Med (2006) 1.19
Genetic variants in multidrug and toxic compound extrusion-1, hMATE1, alter transport function. Pharmacogenomics J (2009) 1.18
Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. Am J Hum Genet (2004) 1.17
Role of the copper transporter, CTR1, in platinum-induced ototoxicity. J Neurosci (2010) 1.17
The human organic anion transporter 3 (OAT3; SLC22A8): genetic variation and functional genomics. Am J Physiol Renal Physiol (2005) 1.15
Admixture mapping of quantitative trait loci for BMI in African Americans: evidence for loci on chromosomes 3q, 5q, and 15q. Obesity (Silver Spring) (2009) 1.12
Substrate-specific modulation of CYP3A4 activity by genetic variants of cytochrome P450 oxidoreductase. Pharmacogenet Genomics (2010) 1.10
A meta-analysis of genome-wide linkage scans for hypertension: the National Heart, Lung and Blood Institute Family Blood Pressure Program. Am J Hypertens (2003) 1.07
The role of ATM in response to metformin treatment and activation of AMPK. Nat Genet (2012) 1.06
Structure-based ligand discovery for the Large-neutral Amino Acid Transporter 1, LAT-1. Proc Natl Acad Sci U S A (2013) 1.06
Novel variants in human Aquaporin-4 reduce cellular water permeability. Hum Mol Genet (2008) 1.04
Effects of genetic variants of human P450 oxidoreductase on catalysis by CYP2D6 in vitro. Pharmacogenet Genomics (2010) 1.03
Consequences of POR mutations and polymorphisms. Mol Cell Endocrinol (2010) 1.03
Functional effects of protein sequence polymorphisms in the organic cation/ergothioneine transporter OCTN1 (SLC22A4). Pharmacogenet Genomics (2007) 1.02
Selecting optimum eukaryotic integral membrane proteins for structure determination by rapid expression and solubilization screening. J Mol Biol (2008) 1.02
Vorinostat increases expression of functional norepinephrine transporter in neuroblastoma in vitro and in vivo model systems. Clin Cancer Res (2011) 1.02
A near null variant of 12/15-LOX encoded by a novel SNP in ALOX15 and the risk of coronary artery disease. Atherosclerosis (2007) 1.01
Functional genetic variation in the basal promoter of the organic cation/carnitine transporters OCTN1 (SLC22A4) and OCTN2 (SLC22A5). J Pharmacol Exp Ther (2009) 1.01
Functional characterization in yeast of genetic variants in the human equilibrative nucleoside transporter, ENT1. Pharmacogenetics (2003) 1.01
Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1. Pharmacogenet Genomics (2009) 1.00
Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). Mol Pharmacol (2006) 1.00