Published in Genome Res on June 01, 1997
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A genotyping system capable of simultaneously analyzing >1000 single nucleotide polymorphisms in a haploid genome. Genome Res (2005) 1.21
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Homogeneous assays for single-nucleotide polymorphism typing using AlphaScreen. Genome Res (2001) 1.14
Competitive enzymatic reaction to control allele-specific extensions. Nucleic Acids Res (2005) 1.09
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Fast simultaneous detection of K-RAS mutations in colorectal cancer. BMC Cancer (2009) 1.02
SNP typing by apyrase-mediated allele-specific primer extension on DNA microarrays. Nucleic Acids Res (2002) 1.02
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A new strategy to identify rare blood donors: single polymerase chain reaction multiplex SNaPshot reaction for detection of 16 blood group alleles. Blood Transfus (2013) 0.95
Detection of mitochondrial single nucleotide polymorphisms using a primer elongation reaction on oligonucleotide microarrays. Nucleic Acids Res (2001) 0.93
Microarrays for genotyping human group a rotavirus by multiplex capture and type-specific primer extension. J Clin Microbiol (2003) 0.93
New separation-free assay technique for SNPs using two-photon excitation fluorometry. Nucleic Acids Res (2004) 0.92
Attachment of benzaldehyde-modified oligodeoxynucleotide probes to semicarbazide-coated glass. Nucleic Acids Res (2001) 0.90
Clinical relevance of multiple single-nucleotide polymorphisms in Pneumocystis jirovecii Pneumonia: development of a multiplex PCR-single-base-extension methodology. J Clin Microbiol (2011) 0.90
Application of hybridization control probe to increase accuracy on ligation detection or minisequencing diagnostic microarrays. BMC Res Notes (2009) 0.89
Multiple primer extension by DNA polymerase on a novel plastic DNA array coated with a biocompatible polymer. Nucleic Acids Res (2006) 0.88
AccuTyping: new algorithms for automated analysis of data from high-throughput genotyping with oligonucleotide microarrays. Nucleic Acids Res (2006) 0.88
Multiplex SNP typing by bioluminometric assay coupled with terminator incorporation (BATI). Nucleic Acids Res (2005) 0.87
Straightforward detection of SNPs in double-stranded DNA by using exonuclease III/nuclease S1/PNA system. Nucleic Acids Res (2004) 0.83
A genotyping strategy based on incorporation and cleavage of chemically modified nucleotides. Proc Natl Acad Sci U S A (2002) 0.83
A FRET-based analysis of SNPs without fluorescent probes. Nucleic Acids Res (2004) 0.82
Detecting imbalanced expression of SNP alleles by minisequencing on microarrays. BMC Biotechnol (2004) 0.82
Automated mutation analysis. J Inherit Metab Dis (1999) 0.81
Segmental duplication as one of the driving forces underlying the diversity of the human immunoglobulin heavy chain variable gene region. BMC Genomics (2011) 0.80
Genotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach. BMC Genomics (2014) 0.80
Single base extension (SBE) with proofreading polymerases and phosphorothioate primers: improved fidelity in single-substrate assays. Nucleic Acids Res (2003) 0.79
Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern Sweden. Adv Exp Med Biol (2010) 0.78
Investigation of the multiple anchors approach in oligonucleotide microarray preparation using linear and stem-loop structured probes. Nucleic Acids Res (2002) 0.78
Multiplex detection and genotyping of point mutations involved in charcot-marie-tooth disease using a hairpin microarray-based assay. Res Lett Biochem (2009) 0.76
Genetic structures of copy number variants revealed by genotyping single sperm. PLoS One (2009) 0.76
Chemical gradient-mediated melting curve analysis for genotyping of SNPs. Electrophoresis (2009) 0.75
The minisequencing method: a simple strategy for genetic screening of MEN 2 families. BMC Genet (2002) 0.75
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Fluoride-cleavable, fluorescently labelled reversible terminators: synthesis and use in primer extension. Chemistry (2011) 0.75
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. Mol Cell (1998) 9.85
Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes. Am J Hum Genet (1998) 5.24
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet (2000) 4.63
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature (2010) 4.52
Genome sequence, comparative analysis, and population genetics of the domestic horse. Science (2009) 4.41
Genetic changes in primary and recurrent prostate cancer by comparative genomic hybridization. Cancer Res (1995) 3.98
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet (2009) 3.87
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature (1995) 3.78
Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. Nat Genet (2000) 3.39
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Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med (1990) 2.86
The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. Neurology (2005) 2.77
Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science (2000) 2.66
An MDL method for finding haplotype blocks and for estimating the strength of haplotype block boundaries. Pac Symp Biocomput (2003) 2.45
Predisposition to familial osteoarthrosis linked to type II collagen gene. Lancet (1989) 2.43
Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Mol Psychiatry (2009) 2.29
Dual origins of Finns revealed by Y chromosome haplotype variation. Am J Hum Genet (1998) 2.21
A genomewide screen for schizophrenia genes in an isolated Finnish subpopulation, suggesting multiple susceptibility loci. Am J Hum Genet (1999) 2.15
Meiotic drive at the myotonic dystrophy locus? Nat Genet (1994) 2.08
A 5S rRNA/L5 complex is a precursor to ribosome assembly in mammalian cells. J Cell Biol (1988) 2.08
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet (1994) 2.08
Meta-analysis of 32 genome-wide linkage studies of schizophrenia. Mol Psychiatry (2008) 2.07
Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology. Genet Test (2000) 2.01
Preimplantation diagnosis by whole-genome amplification, PCR amplification, and solid-phase minisequencing of blastomere DNA. Clin Chem (1996) 1.97
Meta-analysis of genome-wide association studies for personality. Mol Psychiatry (2010) 1.96
Chromosome 1 loci in Finnish schizophrenia families. Hum Mol Genet (2001) 1.95
Two loci on chromosomes 2 and X for premature coronary heart disease identified in early- and late-settlement populations of Finland. Am J Hum Genet (2000) 1.93
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89
Alternative splicing of human elastin mRNA indicated by sequence analysis of cloned genomic and complementary DNA. Proc Natl Acad Sci U S A (1987) 1.87
Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am J Hum Genet (2000) 1.87
Structure and expression of the genes coding for human alpha 1-acid glycoprotein. EMBO J (1987) 1.85
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland. Genomics (1992) 1.81
A putative vulnerability locus to multiple sclerosis maps to 5p14-p12 in a region syntenic to the murine locus Eae2. Nat Genet (1996) 1.81
Genetic susceptibility to multiple sclerosis linked to myelin basic protein gene. Lancet (1992) 1.79
Genome-wide scan for schizophrenia in the Finnish population: evidence for a locus on chromosome 7q22. Hum Mol Genet (2000) 1.77
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Nat Genet (1999) 1.76
Quantitative-trait-locus analysis of body-mass index and of stature, by combined analysis of genome scans of five Finnish study groups. Am J Hum Genet (2001) 1.72
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. J Biol Chem (1980) 1.69
Determination of allele frequencies at loci with length polymorphism by quantitative analysis of DNA amplified from pooled samples. PCR Methods Appl (1993) 1.67
Differences in DNA-fingerprints between remission and relapse in childhood acute lymphoblastic leukemia. Leuk Res (1988) 1.67
The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe. Hum Mol Genet (1998) 1.67
Gene defect in hypodontia: exclusion of EGF, EGFR, and FGF-3 as candidate genes. J Dent Res (1996) 1.66
Serum complement and familial combined hyperlipidemia. Atherosclerosis (1997) 1.64
Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis. Genomics (1993) 1.61
Mutation detection by solid phase primer extension. Hum Mutat (1996) 1.61
Association of DISC1 with autism and Asperger syndrome. Mol Psychiatry (2007) 1.60
Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations. J Med Genet (2008) 1.59
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat Genet (1998) 1.58
Genomewide scan of multiple sclerosis in Finnish multiplex families. Am J Hum Genet (1997) 1.57
Genome-wide scan in a nationwide study sample of schizophrenia families in Finland reveals susceptibility loci on chromosomes 2q and 5q. Hum Mol Genet (2001) 1.57
Three-dimensional structure of human lysosomal aspartylglucosaminidase. Nat Struct Biol (1995) 1.56
Intragenic polymorphisms of the vitamin D receptor gene associated with intervertebral disc degeneration. Spine (Phila Pa 1976) (1998) 1.56
Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. Proc Natl Acad Sci U S A (1992) 1.54
An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21. Nat Genet (1994) 1.53
Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study. Ann Rheum Dis (2010) 1.53
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. Neurology (2001) 1.53
Minisequencing on oligonucleotide microarrays: comparison of immobilisation chemistries. Nucleic Acids Res (2001) 1.52
Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23. Nat Genet (1998) 1.52
Marfan Database (third edition): new mutations and new routines for the software. Nucleic Acids Res (1998) 1.49
Replication of 1q42 linkage in Finnish schizophrenia pedigrees. Mol Psychiatry (2004) 1.49
Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19. Am J Hum Genet (1994) 1.47
DISC1 association, heterogeneity and interplay in schizophrenia and bipolar disorder. Mol Psychiatry (2008) 1.47
Apolipoprotein E polymorphism determined by restriction enzyme analysis of DNA amplified by polymerase chain reaction: convenient alternative to phenotyping by isoelectric focusing. Clin Chem (1990) 1.46
The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA. Am J Hum Genet (1996) 1.46
A haplotype within the DISC1 gene is associated with visual memory functions in families with a high density of schizophrenia. Mol Psychiatry (2005) 1.44
Homogeneous scoring of single-nucleotide polymorphisms: comparison of the 5'-nuclease TaqMan assay and Molecular Beacon probes. Biotechniques (2000) 1.43
Association between novelty seeking and the type 4 dopamine receptor gene in a large Finnish cohort sample. Am J Psychiatry (1999) 1.42
The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population. Am J Hum Genet (1996) 1.41
Expanding the range of ZNF804A variants conferring risk of psychosis. Mol Psychiatry (2010) 1.41
A heterogeneity-based genome search meta-analysis for autism-spectrum disorders. Mol Psychiatry (2006) 1.39
Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease. Hum Mol Genet (1998) 1.37
A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose in the COOH-terminal propeptide. Proc Natl Acad Sci U S A (1980) 1.36
An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet (1995) 1.36
A novel mutation of the fibrillin gene causing ectopia lentis. Genomics (1994) 1.36
Thermal stability of type I and type III procollagens from normal human fibroblasts and from a patient with osteogenesis imperfecta. Proc Natl Acad Sci U S A (1980) 1.36
Common candidate gene variants are associated with QT interval duration in the general population. J Intern Med (2009) 1.35
Genome scan for predisposing loci for distal interphalangeal joint osteoarthritis: evidence for a locus on 2q. Am J Hum Genet (1999) 1.35
Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus. Am J Hum Genet (1995) 1.34
Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. EMBO J (1991) 1.33
Cytomegalovirus in urine: detection of viral DNA by sandwich hybridization. J Clin Microbiol (1984) 1.33
Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16. Genomics (1990) 1.30
Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J Clin Invest (1992) 1.30
A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila. Mol Psychiatry (2011) 1.30
Fast quantification of nucleic acid hybrids by affinity-based hybrid collection. Nucleic Acids Res (1986) 1.29
Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology (2001) 1.28
Linkage disequilibrium in isolated populations: Finland and a young sub-population of Kuusamo. Eur J Hum Genet (2000) 1.27
The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nat Genet (1995) 1.27
Unexpectedly high allelic diversity at the KIT locus causing dominant white color in the domestic pig. Genetics (2002) 1.25
An Alu variable polyA repeat polymorphism upstream of L-myc at 1p32. Hum Mol Genet (1992) 1.25
Structural analyses of the polymorphic area in type II collagen gene. FEBS Lett (1989) 1.25
Clinical and genetic heterogeneity in Meckel syndrome. Hum Genet (1997) 1.24
Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis. EMBO J (1996) 1.24
Replication of linkage on chromosome 7q22 and association of the regional Reelin gene with working memory in schizophrenia families. Mol Psychiatry (2007) 1.24