Published in Am J Hum Genet on March 01, 1989
Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. Am J Hum Genet (1998) 7.56
The power of association studies to detect the contribution of candidate genetic loci to variation in complex traits. Genome Res (1999) 5.03
Linkage disequilibrium predicts physical distance in the adenomatous polyposis coli region. Am J Hum Genet (1994) 2.65
Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping. Am J Hum Genet (1993) 1.83
Common low-density lipoprotein receptor mutations in the French Canadian population. J Clin Invest (1990) 1.82
Linkage disequilibrium patterns vary with chromosomal location: a case study from the von Willebrand factor region. Am J Hum Genet (1994) 1.52
Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners. J Clin Invest (1989) 1.45
Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin. J Clin Invest (1993) 1.39
Two inflammatory mediator cytokine genes are closely linked and variably amplified on chromosome 17q. Nucleic Acids Res (1990) 1.30
Human CYP1A1 gene: cosegregation of the enzyme inducibility phenotype and an RFLP. Am J Hum Genet (1991) 1.25
Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors. J Clin Invest (1989) 1.24
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
Linkage of atherogenic lipoprotein phenotype to the low density lipoprotein receptor locus on the short arm of chromosome 19. Proc Natl Acad Sci U S A (1992) 1.03
A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. Am J Hum Genet (1991) 1.00
Low density lipoprotein receptor gene Ava II polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Lipids Health Dis (2011) 0.91
Polymorphic haplotypes and recombination rates at the LDL receptor gene locus in subjects with and without familial hypercholesterolemia who are from different populations. Am J Hum Genet (1993) 0.88
A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect. Am J Hum Genet (1992) 0.85
Renin-angiotensin system polymorphisms in Taiwanese primary vesicoureteral reflux. Pediatr Nephrol (2004) 0.81
Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland. J Med Genet (1998) 0.80
The roles of genetic polymorphisms and human immunodeficiency virus infection in lipid metabolism. Biomed Res Int (2013) 0.79
A large deletion in the LDL receptor gene--the cause of familial hypercholesterolemia in three Italian families: a study that dates back to the 17th century (FH-Pavia). Am J Hum Genet (1992) 0.77
RFLPs of the LDL-receptor gene: their use in the diagnosis of FH and in evaluation of different levels of gene expression on normal subjects. Eur J Epidemiol (1992) 0.77
A HaeIII polymorphism in the 3' untranslated region of the low density lipoprotein receptor (LDLR) gene. Nucleic Acids Res (1991) 0.77
Use of DNA haplotype analysis in diagnosis of familial hypercholesterolaemia in 31 German families. J Med Genet (1991) 0.75
Six DNA polymorphisms in the low density lipoprotein receptor gene: their genetic relationship and an example of their use for identifying affected relatives of patients with familial hypercholesterolaemia. J Med Genet (1993) 0.75
Detection of four new TaqI alleles with probe St14-1. Nucleic Acids Res (1991) 0.75
Risk alleles of genes with monoallelic expression are enriched in gain-of-function variants and depleted in loss-of-function variants for neurodevelopmental disorders. Mol Psychiatry (2017) 0.75
Sequencing end-labeled DNA with base-specific chemical cleavages. Methods Enzymol (1980) 287.68
Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science (1988) 220.77
Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science (1985) 95.08
Genomic sequencing. Proc Natl Acad Sci U S A (1984) 92.36
Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet (1980) 75.25
The Interaction of Selection and Linkage. I. General Considerations; Heterotic Models. Genetics (1964) 35.22
A simple, rapid, and sensitive DNA assay procedure. Anal Biochem (1980) 23.88
A receptor-mediated pathway for cholesterol homeostasis. Science (1986) 19.28
Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci U S A (1978) 16.54
The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell (1984) 12.54
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature (1982) 9.47
Nonuniform recombination within the human beta-globin gene cluster. Am J Hum Genet (1984) 7.97
The Alu family of dispersed repetitive sequences. Science (1982) 7.90
Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest (1973) 5.87
The mutation and polymorphism of the human beta-globin gene and its surrounding DNA. Annu Rev Genet (1984) 5.74
Inferences about linkage disequilibrium. Biometrics (1979) 4.61
Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science (1985) 4.51
The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors. Cell (1986) 3.44
Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia. Cell (1987) 3.31
Apolipoprotein genetic variation and human disease. Physiol Rev (1988) 3.29
Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria. Nature (1986) 3.29
Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain. Cell (1985) 3.13
Evidence for increased recombination near the human insulin gene: implication for disease association studies. Proc Natl Acad Sci U S A (1986) 2.96
The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes. Am J Hum Genet (1988) 2.85
Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria. Hum Genet (1987) 2.73
Is the most frequent allele the oldest? Theor Popul Biol (1977) 2.69
The LDL receptor locus in familial hypercholesterolemia: multiple mutations disrupt transport and processing of a membrane receptor. Cell (1983) 2.62
A locus on chromosome 11p with multiple restriction site polymorphisms. Am J Hum Genet (1984) 2.48
Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster. Proc Natl Acad Sci U S A (1984) 2.47
Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia. Cell (1982) 2.39
An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2. Nature (1987) 2.37
The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum. J Biol Chem (1987) 2.29
Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia. Proc Natl Acad Sci U S A (1986) 2.04
Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia. N Engl J Med (1987) 1.96
Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia. J Biol Chem (1986) 1.94
A common DNA polymorphism of the low-density lipoprotein (LDL) receptor gene and its use in diagnosis. Lancet (1985) 1.64
Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene. Proc Natl Acad Sci U S A (1985) 1.63
Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia. Eur J Biochem (1987) 1.34
AvaII polymorphism in the human LDL receptor gene. Nucleic Acids Res (1987) 1.33
DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster. Hum Genet (1988) 1.32
Pst I RFLP close to the LDL receptor gene. Nucleic Acids Res (1986) 1.26
A RFLP associated with the low-density lipoprotein receptor gene (LDLR). Nucleic Acids Res (1987) 1.17
A DNA polymorphism in the human low-density lipoprotein receptor gene. S Afr Med J (1986) 1.17
Human LDL receptor gene: two ApaLI RFLPs. Nucleic Acids Res (1987) 1.09
Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions. J Clin Invest (1988) 1.08
A strategy for using multiple linked markers for genetic counseling. Am J Hum Genet (1985) 1.08
Multiple origins of the sickle mutation: evidence from beta S globin gene cluster polymorphisms. Mol Biol Med (1983) 1.04
DNA polymorphic patterns and haplotype arrangements of the apo A-1, apo C-III, apo A-IV gene cluster in different ethnic groups. Hum Genet (1987) 0.97
New application for DNA polymorphism. N Engl J Med (1987) 0.78
Identification of the cystic fibrosis gene: genetic analysis. Science (1989) 33.61
Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet (1999) 17.09
Comparative analyses of multi-species sequences from targeted genomic regions. Nature (2003) 13.31
New goals for the U.S. Human Genome Project: 1998-2003. Science (1998) 8.30
Identification of scavenger receptor SR-BI as a high density lipoprotein receptor. Science (1996) 8.29
Nonuniform recombination within the human beta-globin gene cluster. Am J Hum Genet (1984) 7.97
DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell (1991) 7.93
A DNA polymorphism discovery resource for research on human genetic variation. Genome Res (1998) 7.44
Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science (2000) 6.73
High-throughput variation detection and genotyping using microarrays. Genome Res (2001) 5.24
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science (2001) 4.32
Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map. Nat Genet (1994) 4.19
Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet (2007) 4.13
Basic fallacies in the formulation of the paternity index. Am J Hum Genet (1985) 3.18
Apolipoprotein(a) gene accounts for greater than 90% of the variation in plasma lipoprotein(a) concentrations. J Clin Invest (1992) 3.05
Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nat Genet (1998) 3.00
Evidence for increased recombination near the human insulin gene: implication for disease association studies. Proc Natl Acad Sci U S A (1986) 2.96
Structure of the human gene encoding sterol regulatory element binding protein-1 (SREBF1) and localization of SREBF1 and SREBF2 to chromosomes 17p11.2 and 22q13. Genomics (1995) 2.94
Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation: the Lyon repeat hypothesis. Proc Natl Acad Sci U S A (2000) 2.94
Estimating the prior probability of paternity from the results of exclusion tests. Forensic Sci Int (1984) 2.91
Similarity of DNA fingerprints due to chance and relatedness. Hum Hered (1993) 2.90
Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays. Genome Res (2000) 2.79
Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. Am J Hum Genet (1990) 2.77
Molecular definition of the extreme size polymorphism in apolipoprotein(a). Hum Mol Genet (1993) 2.70
High-density lipoprotein binding to scavenger receptor-BI activates endothelial nitric oxide synthase. Nat Med (2001) 2.61
Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster. Proc Natl Acad Sci U S A (1984) 2.47
Patterns of genetic variation in Mendelian and complex traits. Annu Rev Genomics Hum Genet (2000) 2.37
A genetic study of Hirschsprung disease. Am J Hum Genet (1990) 2.30
It's raining SNPs, hallelujah? Nat Genet (1998) 2.30
Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome. Science (1987) 2.27
Evidence for multiple origins of the beta E-globin gene in Southeast Asia. Proc Natl Acad Sci U S A (1982) 2.24
Regulation of scavenger receptor, class B, type I, a high density lipoprotein receptor, in liver and steroidogenic tissues of the rat. J Clin Invest (1996) 2.04
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet (1993) 2.02
Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia. N Engl J Med (1987) 1.96
Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia. J Biol Chem (1986) 1.94
Common low-density lipoprotein receptor mutations in the French Canadian population. J Clin Invest (1990) 1.82
Recombination within and between the human insulin and beta-globin gene loci. Proc Natl Acad Sci U S A (1983) 1.82
Allele frequency distributions in pooled DNA samples: applications to mapping complex disease genes. Genome Res (1998) 1.81
Mean and variance of FST in a finite number of incompletely isolated populations. Theor Popul Biol (1977) 1.79
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet (1995) 1.78
Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nat Genet (1996) 1.77
A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci U S A (2000) 1.76
To a future of genetic medicine. Nature (2001) 1.70
Parental origin and phenotype of triploidy in spontaneous abortions: predominance of diandry and association with the partial hydatidiform mole. Am J Hum Genet (2000) 1.69
Transgenic mice expressing high plasma concentrations of human apolipoprotein B100 and lipoprotein(a). J Clin Invest (1993) 1.69
Molecular basis of apolipoprotein (a) isoform size heterogeneity as revealed by pulsed-field gel electrophoresis. J Clin Invest (1991) 1.68
A high frequency of length polymorphisms in repeated sequences adjacent to Alu sequences. Am J Hum Genet (1990) 1.67
Linkage disequilibrium analysis of biallelic DNA markers, human quantitative trait loci, and threshold-defined case and control subjects. Am J Hum Genet (2000) 1.65
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet (1996) 1.65
Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene. Proc Natl Acad Sci U S A (1985) 1.63
Multipoint gene mapping using seriation. I. General methods. Am J Hum Genet (1987) 1.61
Detection of tandem duplications and implications for linkage analysis. Am J Hum Genet (1994) 1.60
Microsatellite polymorphism linkage map of human chromosome 13q. Genomics (1993) 1.56
Elevated frequency of Tay-Sachs disease among Ashkenazic Jews unlikely by genetic drift alone. Am J Hum Genet (1978) 1.55
The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. Genome Res (1999) 1.53
Help of the fire brigade in a case of a strangulated penis. Ann R Coll Surg Engl (2001) 1.51
A genetic linkage map of 17 markers on human chromosome 21. Genomics (1989) 1.50
Estimation of the marker gene frequency and linkage disequilibrium from conditional marker data. Am J Hum Genet (1984) 1.50
Reconstitution of lipoprotein(a) by infusion of human low density lipoprotein into transgenic mice expressing human apolipoprotein(a). J Biol Chem (1992) 1.45
Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners. J Clin Invest (1989) 1.45
The winged helix/forkhead transcription factor Foxq1 regulates differentiation of hair in satin mice. Genesis (2001) 1.44
A genetic linkage map of 27 markers on human chromosome 21. Genomics (1991) 1.43
Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker. Genomics (1990) 1.43
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum Mol Genet (1995) 1.43
Patterns of meiotic recombination on the long arm of human chromosome 21. Genome Res (2000) 1.40
Cutaneous malignant melanoma and familial dysplastic nevi: evidence for autosomal dominance and pleiotropy. Am J Hum Genet (1986) 1.39
Low density lipoprotein receptor-negative mice expressing human apolipoprotein B-100 develop complex atherosclerotic lesions on a chow diet: no accentuation by apolipoprotein(a). Proc Natl Acad Sci U S A (1998) 1.38
Guidelines for human linkage maps: an international system for human linkage maps (ISLM, 1990). Genomics (1991) 1.37
Structure of the human gene encoding sterol regulatory element binding protein 2 (SREBF2). Genomics (1997) 1.34
AvaII polymorphism in the human LDL receptor gene. Nucleic Acids Res (1987) 1.33
Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3. Am J Hum Genet (1996) 1.32
DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster. Hum Genet (1988) 1.32
Drift variances of FST and GST statistics obtained from a finite number of isolated populations. Theor Popul Biol (1977) 1.31
Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. Hum Mol Genet (1996) 1.27
A linkage map of human chromosome 21:43 PCR markers at average intervals of 2.5 cM. Genomics (1993) 1.26
Genetics and biology of human ovarian teratomas. I. Cytogenetic analysis and mechanism of origin. Am J Hum Genet (1990) 1.26
Guidelines for human linkage maps. An International System for Human Linkage Maps (ISLM, 1990). Ann Hum Genet (1991) 1.25
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. Am J Hum Genet (1999) 1.25
Genetics and biology of human ovarian teratomas. II. Molecular analysis of origin of nondisjunction and gene-centromere mapping of chromosome I markers. Am J Hum Genet (1990) 1.25
Structure and localization of the human gene encoding SR-BI/CLA-1. Evidence for transcriptional control by steroidogenic factor 1. J Biol Chem (1997) 1.23
The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells. Hum Mol Genet (1995) 1.23
Regulation of the very low density lipoprotein receptor by thyroid hormone in rat skeletal muscle. J Biol Chem (1994) 1.22
Multipoint gene mapping using seriation. II. Analysis of simulated and empirical data. Am J Hum Genet (1987) 1.21
Genetic epidemiology of rheumatoid arthritis. Am J Hum Genet (1995) 1.19
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet (1997) 1.18
The Apo(a) gene is the major determinant of variation in plasma Lp(a) levels in African Americans. Am J Hum Genet (1997) 1.17
Genetic linkage map of fishes of the genus Xiphophorus (Teleostei: Poeciliidae). Genetics (1991) 1.16
Utility and efficiency of linked marker genes for genetic counseling. II. Identification of linkage phase by offspring phenotypes. Am J Hum Genet (1982) 1.15
Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3. Genomics (1997) 1.12
Dinucleotide repeat polymorphism at the 3' end of the LDL receptor gene. Nucleic Acids Res (1990) 1.11
A study of restriction fragment length polymorphisms at the human alpha-1-antitrypsin locus. Hum Genet (1985) 1.11
No association between plasma lipoprotein(a) concentrations and the presence or absence of coronary atherosclerosis in African-Americans. Arterioscler Thromb Vasc Biol (1995) 1.10
Relation between number of apolipoprotein(a) kringle 4 repeats and mobility of isoforms in agarose gel: basis for a standardized isoform nomenclature. Clin Chem (1996) 1.10
Transport of lipids from high and low density lipoproteins via scavenger receptor-BI. J Biol Chem (1999) 1.10
The end of the beginning: the race to begin human genome sequencing. Genome Res (1996) 1.10
Human LDL receptor gene: two ApaLI RFLPs. Nucleic Acids Res (1987) 1.09
Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM. Mol Psychiatry (2011) 1.08
Polyunsaturated fatty acids up-regulate hepatic scavenger receptor B1 (SR-BI) expression and HDL cholesteryl ester uptake in the hamster. J Lipid Res (1999) 1.08