Published in Genomics on February 12, 2008
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. Hum Mol Genet (2008) 1.42
Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity. Placenta (2009) 1.10
Identification of key genes associated with gastric cancer based on DNA microarray data. Oncol Lett (2015) 0.87
Engipore acts on human bone marrow stem cells. Saudi Dent J (2010) 0.80
PerioGlas® Acts on Human Stem Cells Isolated from Peripheral Blood. Dent Res J (Isfahan) (2010) 0.80
Human collagen produced in plants: more than just another molecule. Bioengineered (2013) 0.79
Osteoplant acts on stem cells derived from peripheral blood. J Indian Soc Periodontol (2010) 0.79
Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities. PLoS One (2012) 0.78
Titanium nanotubes stimulate osteoblast differentiation of stem cells from pulp and adipose tissue. Dent Res J (Isfahan) (2012) 0.75
A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta. J Mol Diagn (2011) 0.75
Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta. Hum Genomics (2015) 0.75
Regulatory effects of COL1A1 on apoptosis induced by radiation in cervical cancer cells. Cancer Cell Int (2017) 0.75
The human genome browser at UCSC. Genome Res (2002) 168.23
Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol (2000) 128.08
Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics (1989) 73.50
Construction of phylogenetic trees. Science (1967) 23.69
Estimation of the coancestry coefficient: basis for a short-term genetic distance. Genetics (1983) 15.79
A "silent" polymorphism in the MDR1 gene changes substrate specificity. Science (2006) 15.18
VISTA: computational tools for comparative genomics. Nucleic Acids Res (2004) 13.52
An initial map of insertion and deletion (INDEL) variation in the human genome. Genome Res (2006) 11.60
Haplotype variation and linkage disequilibrium in 313 human genes. Science (2001) 8.52
Codon usage in yeast: cluster analysis clearly differentiates highly and lowly expressed genes. Nucleic Acids Res (1986) 7.89
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med (2000) 7.61
Positive and negative selection on the human genome. Genetics (2001) 7.25
Natural variation in human membrane transporter genes reveals evolutionary and functional constraints. Proc Natl Acad Sci U S A (2003) 5.77
Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Hum Mol Genet (2003) 4.63
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell (2006) 4.10
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat (2007) 3.93
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet (2007) 3.84
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med (2006) 2.97
Mapping the ligand-binding sites and disease-associated mutations on the most abundant protein in the human, type I collagen. J Biol Chem (2001) 2.88
Is the most frequent allele the oldest? Theor Popul Biol (1977) 2.69
Statistical tests for detecting positive selection by utilizing high-frequency variants. Genetics (2006) 2.43
Structure of a full-length cDNA clone for the prepro alpha 1(I) chain of human type I procollagen. Biochem J (1988) 1.10
Nucleotide sequence analyses of the MRP1 gene in four populations suggest negative selection on its coding region. BMC Genomics (2006) 0.91
Sequencing errors or SNPs at splice-acceptor guanines in dbSNP? Nat Biotechnol (2006) 0.87
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell (2012) 12.32
Clinical assessment incorporating a personal genome. Lancet (2010) 10.18
Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med (2006) 9.50
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet (2009) 9.45
PharmGKB: the Pharmacogenetics Knowledge Base. Nucleic Acids Res (2002) 6.40
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet (2009) 5.93
A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. PLoS Genet (2008) 5.85
Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus. Nat Genet (2008) 4.33
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell (2006) 4.10
From pharmacogenomic knowledge acquisition to clinical applications: the PharmGKB as a clinical pharmacogenomic biomarker resource. Biomark Med (2011) 4.05
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat (2007) 3.93
Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis. Nature (2010) 3.90
A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. Nat Genet (2003) 3.52
Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly. Nat Biotechnol (2012) 3.43
Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat Genet (2009) 3.33
Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study. Lancet (2013) 3.21
Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. PLoS Genet (2011) 3.20
Population stratification confounds genetic association studies among Latinos. Hum Genet (2005) 3.19
Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma. Proc Natl Acad Sci U S A (2011) 3.10
Genetic admixture and asthma-related phenotypes in Mexican American and Puerto Rican asthmatics. Genet Epidemiol (2005) 3.03
Warfarin pharmacogenetics: a single VKORC1 polymorphism is predictive of dose across 3 racial groups. Blood (2010) 2.93
Challenges in the clinical application of whole-genome sequencing. Lancet (2010) 2.92
Admixture mapping of an allele affecting interleukin 6 soluble receptor and interleukin 6 levels. Am J Hum Genet (2007) 2.91
Association of common genetic variation in the insulin/IGF1 signaling pathway with human longevity. Aging Cell (2009) 2.79
Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study. Hum Mol Genet (2008) 2.71
Sequence variations in the public human genome data reflect a bottlenecked population history. Proc Natl Acad Sci U S A (2002) 2.70
Adrenoceptor polymorphisms and the risk of cardiac injury and dysfunction after subarachnoid hemorrhage. Stroke (2006) 2.68
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat (2008) 2.66
Distinct neural stem cell populations give rise to disparate brain tumors in response to N-MYC. Cancer Cell (2012) 2.45
The pharmacogenetics and pharmacogenomics knowledge base: accentuating the knowledge. Nucleic Acids Res (2007) 2.45
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet (2012) 2.44
Population structure, admixture, and aging-related phenotypes in African American adults: the Cardiovascular Health Study. Am J Hum Genet (2005) 2.41
Temporal dissection of tumorigenesis in primary cancers. Cancer Discov (2011) 2.40
The Pharmacogenomics Research Network Translational Pharmacogenetics Program: overcoming challenges of real-world implementation. Clin Pharmacol Ther (2013) 2.39
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2010) 2.39
Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array. Genomics (2011) 2.31
EGFR phosphorylates tumor-derived EGFRvIII driving STAT3/5 and progression in glioblastoma. Cancer Cell (2013) 2.28
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. Am J Hum Genet (2010) 2.27
PharmGKB: understanding the effects of individual genetic variants. Drug Metab Rev (2008) 2.09
Usefulness of bicuspid aortic valve phenotype to predict elastic properties of the ascending aorta. Am J Cardiol (2007) 2.05
Characterizing the admixed African ancestry of African Americans. Genome Biol (2009) 2.01
Pharmacogenomics and bioinformatics: PharmGKB. Pharmacogenomics (2010) 1.91
Recommendations of the 2006 Human Variome Project meeting. Nat Genet (2007) 1.90
Incorporation of pharmacogenomics into routine clinical practice: the Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline development process. Curr Drug Metab (2014) 1.88
Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol (2010) 1.82
Automating data acquisition into ontologies from pharmacogenetics relational data sources using declarative object definitions and XML. Pac Symp Biocomput (2002) 1.81
PharmGKB: the Pharmacogenomics Knowledge Base. Methods Mol Biol (2013) 1.81
PharmGKB: the pharmacogenetics and pharmacogenomics knowledge base. Methods Mol Biol (2005) 1.80
Ancestry-related assortative mating in Latino populations. Genome Biol (2009) 1.79
Gene targeting in stem cells from individuals with osteogenesis imperfecta. Science (2004) 1.75
Common variants in P2RY11 are associated with narcolepsy. Nat Genet (2010) 1.65
Spontaneous direct carotid-cavernous fistula in Ehlers-Danlos syndrome type IV: two case reports and a review of the literature. J Neuroophthalmol (2002) 1.64
Voltage-gated potassium channel EAG2 controls mitotic entry and tumor growth in medulloblastoma via regulating cell volume dynamics. Genes Dev (2012) 1.64
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet (2012) 1.63
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am J Hum Genet (2004) 1.63
Rapid DNA mapping by fluorescent single molecule detection. Nucleic Acids Res (2006) 1.63
Challenges for biomedical informatics and pharmacogenomics. Annu Rev Pharmacol Toxicol (2002) 1.61
Distribution of human SNPs and its effect on high-throughput genotyping. Hum Mutat (2006) 1.59
Association of TGFBR2 polymorphism with risk of sudden cardiac arrest in patients with coronary artery disease. Heart Rhythm (2009) 1.59
Lack of support for the association between GAD2 polymorphisms and severe human obesity. PLoS Biol (2005) 1.59
Preemptive clinical pharmacogenetics implementation: current programs in five US medical centers. Annu Rev Pharmacol Toxicol (2014) 1.58
Common beta-adrenergic receptor polymorphisms are not associated with risk of sudden cardiac death in patients with coronary artery disease. Heart Rhythm (2008) 1.56
Doxorubicin pathways: pharmacodynamics and adverse effects. Pharmacogenet Genomics (2011) 1.53
Interleukin-6 involvement in brain arteriovenous malformations. Ann Neurol (2006) 1.51
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. Eur J Hum Genet (2011) 1.50
Differences in allergic sensitization by self-reported race and genetic ancestry. J Allergy Clin Immunol (2008) 1.47
ADAM33 is not associated with asthma in Puerto Rican or Mexican populations. Am J Respir Crit Care Med (2003) 1.47
Rapid genome mapping in nanochannel arrays for highly complete and accurate de novo sequence assembly of the complex Aegilops tauschii genome. PLoS One (2013) 1.44
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. Hum Mol Genet (2008) 1.42
The functional importance of disease-associated mutation. BMC Bioinformatics (2002) 1.41
Human Variome Project: an international collaboration to catalogue human genetic variation. Pharmacogenomics (2006) 1.40
Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21. Diabetes (2012) 1.40
Polymorphisms in genes involved in inflammatory and angiogenic pathways and the risk of hemorrhagic presentation of brain arteriovenous malformations. Stroke (2004) 1.39
Aspect ratio determines the quantity of mesoporous silica nanoparticle uptake by a small GTPase-dependent macropinocytosis mechanism. ACS Nano (2011) 1.38
Metformin pathways: pharmacokinetics and pharmacodynamics. Pharmacogenet Genomics (2012) 1.38
Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR. Hum Genet (2005) 1.37
Efficient high-throughput resequencing of genomic DNA. Genome Res (2003) 1.37
A statistical approach to scanning the biomedical literature for pharmacogenetics knowledge. J Am Med Inform Assoc (2004) 1.37
WebFEATURE: An interactive web tool for identifying and visualizing functional sites on macromolecular structures. Nucleic Acids Res (2003) 1.35
Cerivastatin, genetic variants, and the risk of rhabdomyolysis. Pharmacogenet Genomics (2011) 1.34
Gene targeting of mutant COL1A2 alleles in mesenchymal stem cells from individuals with osteogenesis imperfecta. Mol Ther (2007) 1.31
Homogeneous primer extension assay with fluorescence polarization detection. Methods Mol Biol (2003) 1.31
Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders. Hum Mutat (2004) 1.31
Direct determination of haplotypes from single DNA molecules. Nat Methods (2009) 1.30