Genotyping 400 Samples from the NIGMS Human Variation Panels

Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium.

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Comprehensive human genome amplification using multiple displacement amplification

F. Dean, S. Hosono, Linhua Fang, et al.. (2002). Proceedings of the National Academy of Sciences of the United States of America. Cited 1,478 times. https://doi.org/10.1073/pnas.082089499

Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose.

M. Rieder, A. Reiner, B. Gage, et al.. (2005). The New England journal of medicine. Cited 1,434 times. https://doi.org/10.1056/NEJMOA044503

Whole-Genome Patterns of Common DNA Variation in Three Human Populations

D. Hinds, L. Stuve, Geoffrey B. Nilsen, et al.. (2005). Science. Cited 1,210 times. https://doi.org/10.1126/SCIENCE.1105436

Genetic signatures of strong recent positive selection at the lactase gene.

Todd Bersaglieri, Pardis C Sabeti, N. Patterson, et al.. (2004). American journal of human genetics. Cited 1,072 times. https://doi.org/10.1086/421051

Natural selection on protein-coding genes in the human genome

C. Bustamante, A. Fledel-Alon, S. Williamson, et al.. (2005). Nature. Cited 796 times. https://doi.org/10.1038/nature04240

Mutations in SBDS are associated with Shwachman–Diamond syndrome

G. Boocock, J. Morrison, M. Popovic, et al.. (2003). Nature Genetics. Cited 756 times. https://doi.org/10.1038/ng1062

Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.

H. Yamaguchi, R. Calado, H. Ly, et al.. (2005). The New England journal of medicine. Cited 730 times. https://doi.org/10.1056/NEJMOA042980

Assessing the Evolutionary Impact of Amino Acid Mutations in the Human Genome

A. Boyko, S. Williamson, Amit R. Indap, et al.. (2008). PLoS Genetics. Cited 664 times. https://doi.org/10.1371/journal.pgen.1000083

Multiplexed genotyping with sequence-tagged molecular inversion probes

P. Hardenbol, J. Banér, Maneesh Jain, et al.. (2003). Nature Biotechnology. Cited 580 times. https://doi.org/10.1038/nbt821

Variant of SCN5A Sodium Channel Implicated in Risk of Cardiac Arrhythmia

I. Splawski, K. Timothy, M. Tateyama, et al.. (2002). Science. Cited 527 times. https://doi.org/10.1126/SCIENCE.1073569

A comprehensive analysis of common copy-number variations in the human genome.

Kendy K. Y. Wong, R. deLeeuw, Nirpjit S. Dosanjh, et al.. (2007). American journal of human genetics. Cited 522 times. https://doi.org/10.1086/510560

Population History and Natural Selection Shape Patterns of Genetic Variation in 132 Genes

J. Akey, M. Eberle, M. Rieder, et al.. (2004). PLoS Biology. Cited 516 times. https://doi.org/10.1371/journal.pbio.0020286

A novel functional VKORC1 promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity.

Hsiang-Yu Yuan, Jin-Jer Chen, M. M. Lee, et al.. (2005). Human molecular genetics. Cited 496 times. https://doi.org/10.1093/HMG/DDI180

Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.

M. Ackerman, B. L. Siu, W. Sturner, et al.. (2001). JAMA. Cited 465 times. https://doi.org/10.1001/JAMA.286.18.2264

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

S. V. Van Driest, V. Vasile, S. Ommen, et al.. (2004). Journal of the American College of Cardiology. Cited 458 times. https://doi.org/10.1016/J.JACC.2004.07.045

Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.

S. Dib-Hajj, Anthony M. Rush, T. Cummins, et al.. (2005). Brain : a journal of neurology. Cited 445 times. https://doi.org/10.1093/BRAIN/AWH514

Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays

H. Matsuzaki, Shoulian Dong, Halina Loi, et al.. (2004). Nature Methods. Cited 438 times. https://doi.org/10.1038/nmeth718

Unbiased whole-genome amplification directly from clinical samples.

S. Hosono, A. Faruqi, F. Dean, et al.. (2003). Genome research. Cited 430 times. https://doi.org/10.1101/GR.816903

High-resolution analysis of DNA copy number using oligonucleotide microarrays.

G. Bignell, Jing Huang, J. Greshock, et al.. (2004). Genome research. Cited 400 times. https://doi.org/10.1101/GR.2012304

Polymorphisms within the C-reactive protein (CRP) promoter region are associated with plasma CRP levels.

C. Carlson, S. Aldred, Philip Lee, et al.. (2005). American journal of human genetics. Cited 352 times. https://doi.org/10.1086/431366

Promoter and 3'-untranslated-region haplotypes in the vitamin d receptor gene predispose to osteoporotic fracture: the rotterdam study.

Yue Fang, J. V. van Meurs, Arnold d'Alésio, et al.. (2005). American journal of human genetics. Cited 345 times. https://doi.org/10.1086/497438

Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array.

H. Matsuzaki, Halina Loi, Shoulian Dong, et al.. (2004). Genome research. Cited 343 times. https://doi.org/10.1101/GR.2014904

Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans

C. Carlson, M. Eberle, M. Rieder, et al.. (2003). Nature Genetics. Cited 328 times. https://doi.org/10.1038/ng1128

CYP3A variation and the evolution of salt-sensitivity variants.

E. Thompson, H. Kuttab-Boulos, David B Witonsky, et al.. (2004). American journal of human genetics. Cited 309 times. https://doi.org/10.1086/426406

Effects of ethnicity on the distribution of clinically relevant endothelial nitric oxide variants.

J. Tanus-Santos, Mehul Desai, D. Flockhart. (2001). Pharmacogenetics. Cited 302 times. https://doi.org/10.1097/00008571-200111000-00011

Evidence for substantial fine-scale variation in recombination rates across the human genome

D. Crawford, T. Bhangale, Na Li, et al.. (2004). Nature Genetics. Cited 299 times. https://doi.org/10.1038/ng1376

Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies

J. Deyoung, M. Karayiorgou, J. Roos, et al.. (2006). Nature Genetics. Cited 284 times. https://doi.org/10.1038/ng1770

Fine-scale recombination patterns differ between chimpanzees and humans

S. Ptak, D. Hinds, K. Koehler, et al.. (2005). Nature Genetics. Cited 281 times. https://doi.org/10.1038/ng1529

Genomic regions exhibiting positive selection identified from dense genotype data.

C. Carlson, D. Thomas, M. Eberle, et al.. (2005). Genome research. Cited 280 times. https://doi.org/10.1101/GR.4326505

Prevalence and Spectrum of Thin Filament Mutations in an Outpatient Referral Population With Hypertrophic Cardiomyopathy

S. V. Van Driest, Erik G. Ellsworth, S. Ommen, et al.. (2003). Circulation: Journal of the American Heart Association. Cited 274 times. https://doi.org/10.1161/01.CIR.0000080896.52003.DF

A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity.

M. Osier, A. Pakstis, H. Soodyall, et al.. (2002). American journal of human genetics. Cited 249 times. https://doi.org/10.1086/341290

Clinical Features of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Associated With Mutations in Plakophilin-2

D. Dalal, Lorraine H Molin, Jonathan P Piccini, et al.. (2006). Circulation. Cited 247 times. https://doi.org/10.1161/CIRCULATIONAHA.105.568642

Ethnic differences in allele frequency of autoimmune-disease-associated SNPs

Mikako Mori, R. Yamada, Kyoko Kobayashi, et al.. (2005). Journal of Human Genetics. Cited 240 times. https://doi.org/10.1007/s10038-005-0246-8

A Ubiquitous Splice Variant and a Common Polymorphism Affect Heterologous Expression of Recombinant Human SCN5A Heart Sodium Channels

J. Makielski, B. Ye, C. Valdivia, et al.. (2003). Circulation Research: Journal of the American Heart Association. Cited 231 times. https://doi.org/10.1161/01.RES.0000096652.14509.96

Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia.

M. Tomasson, Zhifu Xiang, R. Walgren, et al.. (2008). Blood. Cited 227 times. https://doi.org/10.1182/blood-2007-09-113027

Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

S. V. Van Driest, M. A. Jaeger, S. Ommen, et al.. (2004). Journal of the American College of Cardiology. Cited 205 times. https://doi.org/10.1016/J.JACC.2004.04.039

The impact of SNP density on fine-scale patterns of linkage disequilibrium.

X. Ke, S. Hunt, W. Tapper, et al.. (2004). Human molecular genetics. Cited 204 times. https://doi.org/10.1093/HMG/DDH060

The SNPlex genotyping system: a flexible and scalable platform for SNP genotyping.

A. Tobler, S. Short, M. R. Andersen, et al.. (2005). Journal of biomolecular techniques : JBT. Cited 200 times.

Human aromatase: gene resequencing and functional genomics.

Cynthia X. Ma, A. Adjei, O. Salavaggione, et al.. (2005). Cancer research. Cited 193 times. https://doi.org/10.1158/0008-5472.CAN-05-1218

Ethnicity-dependent Polymorphism in Na+-taurocholate Cotransporting Polypeptide (SLC10A1) Reveals a Domain Critical for Bile Acid Substrate Recognition*

R. Ho, B. Leake, R. Roberts, et al.. (2004). Journal of Biological Chemistry. Cited 180 times. https://doi.org/10.1074/JBC.M305782200

Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations.

D. Crawford, C. Carlson, M. Rieder, et al.. (2004). American journal of human genetics. Cited 180 times. https://doi.org/10.1086/382227

Modification of human hearing loss by plasma-membrane calcium pump PMCA2.

Julie M. Schultz, Yandan Yang, A. Caride, et al.. (2005). The New England journal of medicine. Cited 177 times. https://doi.org/10.1056/NEJMOA043899

Defining the Cellular Phenotype of “Ankyrin-B Syndrome” Variants: Human ANK2 Variants Associated With Clinical Phenotypes Display a Spectrum of Activities in Cardiomyocytes

P. Mohler, S. Le Scouarnec, I. Denjoy, et al.. (2007). Circulation. Cited 176 times. https://doi.org/10.1161/CIRCULATIONAHA.106.656512

Gemcitabine Pharmacogenomics: Cytidine Deaminase and Deoxycytidylate Deaminase Gene Resequencing and Functional Genomics

J. Gilbert, O. Salavaggione, Y. Ji, et al.. (2006). Clinical Cancer Research. Cited 159 times. https://doi.org/10.1158/1078-0432.CCR-05-1969

Human catechol O-methyltransferase genetic variation: gene resequencing and functional characterization of variant allozymes

A. Shield, B. Thomae, B. Eckloff, et al.. (2004). Molecular Psychiatry. Cited 155 times. https://doi.org/10.1038/sj.mp.4001386

Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes.

T. Bhangale, M. Rieder, R. Livingston, et al.. (2005). Human molecular genetics. Cited 146 times. https://doi.org/10.1093/HMG/DDI006

Gemcitabine and cytosine arabinoside cytotoxicity: association with lymphoblastoid cell expression.

Liang Li, B. Fridley, K. Kalari, et al.. (2008). Cancer research. Cited 146 times. https://doi.org/10.1158/0008-5472.CAN-08-0405

ABCG2 Pharmacogenetics

F. D. de Jong, S. Marsh, R. Mathijssen, et al.. (2004). Clinical Cancer Research. Cited 143 times. https://doi.org/10.1158/1078-0432.CCR-04-0144

Molecular and functional characterization of common polymorphisms in HERG (KCNH2) potassium channels.

B. Anson, M. Ackerman, D. Tester, et al.. (2004). American journal of physiology. Heart and circulatory physiology. Cited 137 times. https://doi.org/10.1152/AJPHEART.00891.2003

Scan of Human Genome Reveals No New Loci Under Ancient Balancing Selection

Kerry L. Bubb, Donald Bovee, D. Buckley, et al.. (2006). Genetics. Cited 126 times. https://doi.org/10.1534/genetics.106.055715

Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28.

Linda M. Peters, David W. Anderson, A. Griffith, et al.. (2002). Human molecular genetics. Cited 112 times. https://doi.org/10.1093/HMG/11.23.2877

Variants in the VCAM1 gene and risk for symptomatic stroke in sickle cell disease.

James G. Taylor, D. Tang, S. Savage, et al.. (2002). Blood. Cited 111 times. https://doi.org/10.1182/BLOOD-2001-12-0306

Polymorphisms in the trace amine receptor 4 (TRAR4) gene on chromosome 6q23.2 are associated with susceptibility to schizophrenia.

J. Duan, Maria Martinez, A. Sanders, et al.. (2004). American journal of human genetics. Cited 108 times. https://doi.org/10.1086/424887

High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs.

Howard R. Slater, D. Bailey, H. Ren, et al.. (2005). American journal of human genetics. Cited 108 times. https://doi.org/10.1086/497343

Human SULT1A1 gene: copy number differences and functional implications.

S. Hebbring, A. Adjei, J. Baer, et al.. (2007). Human molecular genetics. Cited 108 times. https://doi.org/10.1093/HMG/DDL468

Toll-like receptor 6 gene (TLR6): single-nucleotide polymorphism frequencies and preliminary association with the diagnosis of asthma

K. Tantisira, W. Klimecki, R. Lazarus, et al.. (2004). Genes and Immunity. Cited 107 times. https://doi.org/10.1038/sj.gene.6364096

Genomic evidence for recent positive selection at the human MDR1 gene locus.

K. Tang, L. Wong, E. Lee, et al.. (2004). Human molecular genetics. Cited 102 times. https://doi.org/10.1093/HMG/DDH099

Gene expression profiling detects gene amplification and differentiates tumor types in breast cancer.

M. Dressman, A. Baras, R. Malinowski, et al.. (2003). Cancer research. Cited 101 times.

The IL12B gene is associated with asthma.

A. Randolph, C. Lange, E. Silverman, et al.. (2004). American journal of human genetics. Cited 98 times. https://doi.org/10.1086/424886

Human estrogen sulfotransferase (SULT1E1) pharmacogenomics: gene resequencing and functional genomics

A. Adjei, B. Thomae, J. Prondzinski, et al.. (2003). British Journal of Pharmacology. Cited 95 times. https://doi.org/10.1038/sj.bjp.0705369

Human sulfotransferase SULT2A1 pharmacogenetics: genotype-to-phenotype studies

B. Thomae, B. Eckloff, R. Freimuth, et al.. (2001). The Pharmacogenomics Journal. Cited 93 times. https://doi.org/10.1038/sj.tpj.6500089

Multiplex polymerase chain reaction for simultaneous quantitation of human nuclear, mitochondrial, and male Y-chromosome DNA: application in human identification.

Jerilyn A. Walker, D. Hedges, Benjamin P Perodeau, et al.. (2005). Analytical biochemistry. Cited 91 times. https://doi.org/10.1016/J.AB.2004.09.036

GLUTATHIONE S-TRANSFERASE OMEGA 1 AND OMEGA 2 PHARMACOGENOMICS

Baidehi Mukherjee, O. Salavaggione, L. Pelleymounter, et al.. (2006). Drug Metabolism and Disposition. Cited 88 times. https://doi.org/10.1124/dmd.106.009613

Human Arsenic Methyltransferase (AS3MT) Pharmacogenetics

T. C. Wood, Oreste E Salavagionne, Baidehi Mukherjee, et al.. (2006). Journal of Biological Chemistry. Cited 86 times. https://doi.org/10.1074/jbc.M512227200

Glutathione s-transferase p1: gene sequence variation and functional genomic studies.

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The linkage disequilibrium maps of three human chromosomes across four populations reflect their demographic history and a common underlying recombination pattern.

Francisco M. De La Vega, Hadar I. Isaac, A. Collins, et al.. (2005). Genome research. Cited 85 times. https://doi.org/10.1101/GR.3241705

Detection of functional single-nucleotide polymorphisms that affect apoptosis.

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Recombinant CYP3A417 Is Defective in Metabolizing the Hypertensive Drug Nifedipine, and the CYP3A417 Allele May Occur on the Same Chromosome as CYP3A5*3, Representing a New Putative Defective CYP3A Haplotype

Su-Jun Lee, D. Bell, S. Coulter, et al.. (2005). Journal of Pharmacology and Experimental Therapeutics. Cited 83 times. https://doi.org/10.1124/JPET.104.078758

The prevalence of folate-remedial MTHFR enzyme variants in humans

N. J. Marini, Jennifer W. Gin, J. Ziegle, et al.. (2008). Proceedings of the National Academy of Sciences. Cited 83 times. https://doi.org/10.1073/pnas.0802813105

Pathogenesis of unexplained drowning: new insights from a molecular autopsy.

D. Tester, Laura J. Kopplin, Wendy Creighton, et al.. (2005). Mayo Clinic proceedings. Cited 79 times. https://doi.org/10.4065/80.5.596

Glutathione S-Transferase T1 and M1: Gene Sequence Variation and Functional Genomics

A. Moyer, O. Salavaggione, S. Hebbring, et al.. (2007). Clinical Cancer Research. Cited 79 times. https://doi.org/10.1158/1078-0432.CCR-07-0635

Novel paraoxonase (PON1) nonsense and missense mutations predicted by functional genomic assay of PON1 status.

G. Jarvik, Rachel L. Jampsa, R. Richter, et al.. (2003). Pharmacogenetics. Cited 78 times. https://doi.org/10.1097/00008571-200305000-00009

Human methylenetetrahydrofolate reductase pharmacogenomics: gene resequencing and functional genomics

Y. Martin, O. Salavaggione, B. Eckloff, et al.. (2006). Pharmacogenetics and Genomics. Cited 76 times. https://doi.org/10.1097/01.FPC.0000194423.20393.08

Analysis of four DLX homeobox genes in autistic probands

S. Hamilton, J. Woo, E. Carlson, et al.. (2005). BMC Genetics. Cited 74 times. https://doi.org/10.1186/1471-2156-6-52

Mutations in the SBDS gene in acquired aplastic anemia.

R. Calado, S. Graf, Keisha L. Wilkerson, et al.. (2007). Blood. Cited 71 times. https://doi.org/10.1182/BLOOD-2007-03-080044

Regulation of the Human MSH6 Gene by the Sp1 Transcription Factor and Alteration of Promoter Activity and Expression by Polymorphisms

I. Gazzoli, R. Kolodner. (2003). Molecular and Cellular Biology. Cited 67 times. https://doi.org/10.1128/MCB.23.22.7992-8007.2003

Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy

H. Ohmori, Yukio Ando, Yoshio Makita, et al.. (2004). Journal of Medical Genetics. Cited 62 times. https://doi.org/10.1136/jmg.2003.014803

Polymorphisms in the interleukin 17F gene (IL17F) and asthma

Clare D. Ramsey, R. Lazarus, Carlos A. Camargo, et al.. (2005). Genes and Immunity. Cited 62 times. https://doi.org/10.1038/sj.gene.6364170

A Functional Genetic Polymorphism on Human Carbonyl Reductase 1 (CBR1 V88I) Impacts on Catalytic Activity and NADPH Binding Affinity

V. González-Covarrubias, D. Ghosh, S. Lakhman, et al.. (2007). Drug Metabolism and Disposition. Cited 62 times. https://doi.org/10.1124/dmd.107.014779

Nontruncating APC germ-line mutations and mismatch repair deficiency play a minor role in APC mutation-negative polyposis.

K. Heinimann, A. Thompson, A. Locher, et al.. (2001). Cancer research. Cited 58 times. https://doi.org/10.5167/UZH-35493

Human catecholamine sulfotransferase (SULT1A3) pharmacogenetics: functional genetic polymorphism

B. Thomae, O. Rifki, M. Theobald, et al.. (2003). Journal of Neurochemistry. Cited 56 times. https://doi.org/10.1046/j.1471-4159.2003.02027.x

Human phenylethanolamine N‐methyltransferase pharmacogenomics: gene re‐sequencing and functional genomics

Y. Ji, O. Salavaggione, Liewei Wang, et al.. (2005). Journal of Neurochemistry. Cited 51 times. https://doi.org/10.1111/j.1471-4159.2005.03453.x

BMP‐2 Gene Polymorphisms and Osteoporosis: The Rotterdam Study

M. Medici, J. V. van Meurs, F. Rivadeneira, et al.. (2006). Journal of Bone and Mineral Research. Cited 50 times. https://doi.org/10.1359/jbmr.060306

A rare polymorphism affects a Mitogen-Activated Protein kinase site in synapsin III: possible relationship to schizophrenia

B. Porton, Adriana Ferreira, L. DeLisi, et al.. (2004). Biological Psychiatry. Cited 41 times. https://doi.org/10.1016/j.biopsych.2003.07.002

Comparative genomics analysis of human sequence variation in the UGT1A gene cluster

M. Maitland, C. Grimsley, C. Grimsley, et al.. (2006). The Pharmacogenomics Journal. Cited 40 times. https://doi.org/10.1038/sj.tpj.6500351

Identification and characterization of genetic variation in the folylpolyglutamate synthase gene.

T. Leil, C. Endo, A. Adjei, et al.. (2007). Cancer research. Cited 40 times. https://doi.org/10.1158/0008-5472.CAN-07-0156

High‐throughput single‐strand conformation polymorphism analysis on a microfabricated capillary array electrophoresis device

H. Tian, C. Emrich, J. Scherer, et al.. (2005). ELECTROPHORESIS. Cited 39 times. https://doi.org/10.1002/elps.200410205

A novel TPM1 mutation in a family with hypertrophic cardiomyopathy and sudden cardiac death in childhood.

S. V. Van Driest, Melissa L. Will, D. Atkins, et al.. (2002). The American journal of cardiology. Cited 37 times. https://doi.org/10.1016/S0002-9149(02)02780-7

No association of the GABAA receptor genes on chromosome 5 with alcoholism in the collaborative study on the genetics of alcoholism sample

Danielle M. Dick, H. Edenberg, X. Xuei, et al.. (2005). American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. Cited 34 times. https://doi.org/10.1002/ajmg.b.30058

Identification and functional characterization of variants in human concentrative nucleoside transporter 3, hCNT3 (SLC28A3), arising from single nucleotide polymorphisms in coding regions of the hCNT3 gene

Sambasivarao Damaraju, Jing Zhang, Frank Visser, et al.. (2005). Pharmacogenetics and Genomics. Cited 34 times. https://doi.org/10.1097/01213011-200503000-00006

The effect of haplotype-block definitions on inference of haplotype-block structure and htSNPs selection.

Keyue Ding, K. Zhou, Jing Zhang, et al.. (2004). Molecular biology and evolution. Cited 33 times. https://doi.org/10.1093/MOLBEV/MSH266

Human Hydroxysteroid Sulfotransferase SULT2B1 Pharmacogenomics: Gene Sequence Variation and Functional Genomics

Y. Ji, Irene Moon, J. Zlatković, et al.. (2007). Journal of Pharmacology and Experimental Therapeutics. Cited 33 times. https://doi.org/10.1124/jpet.107.122895

Proteasome β Subunit Pharmacogenomics: Gene Resequencing and Functional Genomics

Liewei Wang, Shaji K. Kumar, B. Fridley, et al.. (2008). Clinical Cancer Research. Cited 33 times. https://doi.org/10.1158/1078-0432.CCR-07-5150

Microarray genotyping resource to determine population stratification in genetic association studies of complex disease.

S. Tebbutt, Jian-qing He, K. Burkett, et al.. (2004). BioTechniques. Cited 32 times. https://doi.org/10.2144/04376RR02

Genetically indistinguishable SNPs and their influence on inferring the location of disease-associated variants.

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Identification of genetic variants in the neuronal form of tryptophan hydroxylase (TPH2)

S. Breidenthal, Daniel J. White, C. Glatt. (2004). Psychiatric Genetics. Cited 31 times. https://doi.org/10.1097/01.YPG.0000107929.32051.58

Local adaptation and population differentiation at the interleukin 13 and interleukin 4 loci

T. Sakagami, T. Sakagami, D. Witherspoon, et al.. (2004). Genes and Immunity. Cited 31 times. https://doi.org/10.1038/sj.gene.6364109

Selecting Tagging SNPs for Association Studies Using Power Calculations from Genotype Data

Xiaolan Hu, Steven J. Schrodi, D. Ross, et al.. (2004). Human Heredity. Cited 28 times. https://doi.org/10.1159/000079246

Absence of Pro475Ser polymorphism in ADAMTS‐13 in Caucasians

T. Bongers, M. D. de Maat, D. Dippel, et al.. (2005). Journal of Thrombosis and Haemostasis. Cited 28 times. https://doi.org/10.1111/j.1538-7836.2005.01239.x

Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy.

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The Promoter Region of the MDR1 Gene Is Largely Invariant, but Different Single Nucleotide Polymorphism Haplotypes Affect MDR1 Promoter Activity Differently in Different Cell Lines

Baoshuang Wang, S. Ngoi, Jingbo Wang, et al.. (2006). Molecular Pharmacology. Cited 28 times. https://doi.org/10.1124/mol.105.019810

Identifying the genotype behind the phenotype: a role model found in VKORC1 and its association with warfarin dosing.

D. Crawford, M. Ritchie, M. Rieder. (2007). Pharmacogenomics. Cited 27 times. https://doi.org/10.2217/14622416.8.5.487

Correlation of Major Cytogenetic Response with a Pharmacogenetic Marker in Chronic Myeloid Leukemia Patients Treated with Imatinib (STI571)

M. Dressman, R. Malinowski, L. A. McLean, et al.. (2004). Clinical Cancer Research. Cited 26 times. https://doi.org/10.1158/1078-0432.CCR-0785-3

New GAA mutations in Japanese patients with GSDII (Pompe disease).

J. Pipo, Jian-hua Feng, Toshiyuki Yamamoto, et al.. (2003). Pediatric neurology. Cited 24 times. https://doi.org/10.1016/S0887-8994(03)00267-4

Screening for new MTHFR polymorphisms and NTD risk

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The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures

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Racial differences in prevalence of a supratypic HLA-genetic marker immaterial to pre-employment testing for susceptibility to chronic beryllium disease.

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