Published in Proc Natl Acad Sci U S A on February 01, 1986
The coalescent process in models with selection. Genetics (1988) 10.14
Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. Am J Hum Genet (1998) 7.56
Insulin-gene sharing in sib pairs with insulin-dependent diabetes mellitus: no evidence for linkage. Am J Hum Genet (1988) 4.86
The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes. Am J Hum Genet (1988) 2.85
High-resolution patterns of meiotic recombination across the human major histocompatibility complex. Am J Hum Genet (2002) 2.71
Linkage disequilibrium predicts physical distance in the adenomatous polyposis coli region. Am J Hum Genet (1994) 2.65
Mammalian recombination hot spots: properties, control and evolution. Nat Rev Genet (2010) 2.54
A deductive method of haplotype analysis in pedigrees. Am J Hum Genet (1987) 2.31
Population amalgamation and genetic variation: observations on artificially agglomerated tribal populations of Central and South America. Am J Hum Genet (1988) 2.13
Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping. Am J Hum Genet (1993) 1.83
Polymorphic DNA haplotypes at the LDL receptor locus. Am J Hum Genet (1989) 1.82
Characterization of recombination in the HLA class II region. Am J Hum Genet (1997) 1.69
Alternative bioassays of kinship between loci. Am J Hum Genet (1988) 1.66
Multiple restriction fragment length polymorphisms at the insulin receptor locus: a highly informative marker for linkage analysis. Proc Natl Acad Sci U S A (1986) 1.59
A torrid zone on mouse chromosome 1 containing a cluster of recombinational hotspots. Genetics (2004) 1.51
Linkage disequilibria between pairs of loci within a highly polymorphic region of chromosome 2Q. Am J Hum Genet (1986) 1.50
Hot and cold spots of recombination in the human genome: the reason we should find them and how this can be achieved. Am J Hum Genet (2003) 1.42
Molecular mapping of a recombination hotspot located in the second intron of the human TAP2 locus. Am J Hum Genet (1995) 1.12
Hot spot of recombination within DXS164 in the Duchenne muscular dystrophy gene. Am J Hum Genet (1989) 1.11
Linkage disequilibrium among RFLPs at the insulin-receptor locus despite intervening Alu repeat sequences. Am J Hum Genet (1992) 1.09
Eight closely linked loci place the Wilson disease locus within 13q14-q21. Am J Hum Genet (1988) 1.07
Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4). Proc Natl Acad Sci U S A (1986) 1.00
Nonuniform linkage disequilibrium within a 1,500-kb region of the human immunoglobulin heavy-chain complex. Am J Hum Genet (1991) 1.00
Linkage disequilibrium in the human insulin/insulin-like growth factor II region of human chromosome II. Am J Hum Genet (1988) 0.96
Human tyrosine hydroxylase and insulin genes are contiguous on chromosome 11. Nucleic Acids Res (1988) 0.96
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
Integration of hepatitis B virus: analysis of unoccupied sites. J Virol (1987) 0.87
Fine scale analysis of crossover and non-crossover and detection of recombination sequence motifs in the honeybee (Apis mellifera). PLoS One (2012) 0.86
High-resolution linkage map for two honeybee chromosomes: the hotspot quest. Mol Genet Genomics (2013) 0.78
Linkage disequilibrium in the insulin gene region: size variation at the 5' flanking polymorphism and bimodality among "class I" alleles. Am J Hum Genet (1994) 0.78
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
Gene and gene-product variation in the apolipoprotein A-I/C-III/A-IV cluster in the Dogrib Indians of the Northwest Territories. Am J Hum Genet (1989) 0.77
An analysis of amplified insulin gene products in diabetics of Indian origin. J Med Genet (1991) 0.75
The impact of recombination on human mutation load and disease. Philos Trans R Soc Lond B Biol Sci (2017) 0.75
Hypervariable 'minisatellite' regions in human DNA. Nature (1985) 31.03
Linkage disequilibrium and homozygosity of chromosome segments in finite populations. Theor Popul Biol (1971) 13.68
Polymorphic DNA region adjacent to the 5' end of the human insulin gene. Proc Natl Acad Sci U S A (1981) 12.86
A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus. Diabetes (1984) 10.09
On the formation of spontaneous deletions: the importance of short sequence homologies in the generation of large deletions. Cell (1982) 9.72
Cell-specific expression controlled by the 5'-flanking region of insulin and chymotrypsin genes. Nature (1984) 8.65
Nonuniform recombination within the human beta-globin gene cluster. Am J Hum Genet (1984) 7.97
The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences. Nature (1982) 7.47
Estimation of genetic variation at the DNA level from restriction endonuclease data. Proc Natl Acad Sci U S A (1981) 4.71
Linkage disequilibrium and evolutionary relationships of DNA variants (restriction enzyme fragment length polymorphisms) at the serum albumin locus. Proc Natl Acad Sci U S A (1984) 2.64
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
A two-locus neutrality test: applications to humans, E. coli and lodgepole pine. Genetics (1986) 2.34
Quantification of the close association between DNA haplotypes and specific beta-thalassaemia mutations in Mediterraneans. Nature (1984) 2.18
Recombination within and between the human insulin and beta-globin gene loci. Proc Natl Acad Sci U S A (1983) 1.82
Restriction fragment length polymorphism of the insulin gene in diabetes mellitus. Diabetes (1982) 1.75
Polymorphism in the 5'-flanking region of the human insulin gene and its possible relation to type 2 diabetes. Science (1981) 1.73
Recombination hot spot in the human beta-globin gene cluster: meiotic recombination of human DNA fragments in Saccharomyces cerevisiae. Mol Cell Biol (1985) 1.63
The interaction of cos with Chi is separable from DNA packaging in recA-recBC-mediated recombination of bacteriophage lambda. Genetics (1983) 1.52
Polymorphism in the 5' flanking region of the human insulin gene: a genetic marker for non-insulin-dependent diabetes. N Engl J Med (1983) 1.44
Report of the committee on the genetic constitution of chromosome 6. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping. Cytogenet Cell Genet (1982) 1.22
A study of restriction fragment length polymorphisms at the human alpha-1-antitrypsin locus. Hum Genet (1985) 1.11
New polymorphisms at the insulin locus increase its usefulness as a genetic marker. Diabetes (1985) 1.09
A strategy for using multiple linked markers for genetic counseling. Am J Hum Genet (1985) 1.08
The 1983 catalogue of mapped human genetic markers and report of the Nomenclature Committee. Cytogenet Cell Genet (1984) 1.05
Diabetic hypertriglyceridaemia and related 5' flanking polymorphism of the human insulin gene. Br Med J (Clin Res Ed) (1984) 1.02
DNA sequences flanking the insulin gene on chromosome 11 confer risk of atherosclerosis. Lancet (1984) 1.02
Possible association between DNA sequences flanking the insulin gene and atherosclerosis. Lancet (1982) 1.00
Lack of association of the polymorphic locus in the 5'-flanking region of the human insulin gene and diabetes in American blacks. Diabetes (1985) 0.94
Islet beta-cell function and polymorphism in the 5'-flanking region of the human insulin gene. Diabetes (1985) 0.94
Polymorphism in the 5' flanking region of the human insulin gene. Relationships with noninsulin-dependent diabetes mellitus, glucose and insulin concentrations, and diabetes treatment in the Pima Indians. J Clin Invest (1984) 0.86
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
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
High-throughput variation detection and genotyping using microarrays. Genome Res (2001) 5.24
Adenosine diphosphate as an intracellular regulator of insulin secretion. Science (1996) 4.42
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
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet (1998) 3.65
Islet beta cell expression of constitutively active Akt1/PKB alpha induces striking hypertrophy, hyperplasia, and hyperinsulinemia. J Clin Invest (2001) 3.29
Basic fallacies in the formulation of the paternity index. Am J Hum Genet (1985) 3.18
Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nat Genet (1998) 3.00
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
Linkage of type 2 diabetes to the glucokinase gene. Lancet (1992) 2.64
Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med (1998) 2.57
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
Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. J Pediatr (1998) 2.33
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
Mice conditionally lacking the Wolfram gene in pancreatic islet beta cells exhibit diabetes as a result of enhanced endoplasmic reticulum stress and apoptosis. Diabetologia (2005) 2.08
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
Glucose transporter protein content and glucose transport capacity in rat skeletal muscles. Am J Physiol (1990) 1.91
A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. Diabetes (1997) 1.86
Recombination within and between the human insulin and beta-globin gene loci. Proc Natl Acad Sci U S A (1983) 1.82
Polymorphic DNA haplotypes at the LDL receptor locus. Am J Hum Genet (1989) 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
Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum Mol Genet (1996) 1.76
Family cell lines available for research. Am J Hum Genet (1990) 1.72
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
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
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
Multiple restriction fragment length polymorphisms at the insulin receptor locus: a highly informative marker for linkage analysis. Proc Natl Acad Sci U S A (1986) 1.59
Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signals. Diabetologia (2011) 1.59
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. Diabetes (1998) 1.59
Role of orlistat in the treatment of obese patients with type 2 diabetes. A 1-year randomized double-blind study. Diabetes Care (1998) 1.58
Microsatellite polymorphism linkage map of human chromosome 13q. Genomics (1993) 1.56
Genetic analysis of glucose tolerance in inbred mouse strains. Evidence for polygenic control. Diabetes (1988) 1.56
Elevated frequency of Tay-Sachs disease among Ashkenazic Jews unlikely by genetic drift alone. Am J Hum Genet (1978) 1.55
Glucokinase as pancreatic beta cell glucose sensor and diabetes gene. J Clin Invest (1993) 1.55
Insulin biosynthesis. I. On the mechanism of glucose stimulation. J Biol Chem (1972) 1.54
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
Estimation of the marker gene frequency and linkage disequilibrium from conditional marker data. Am J Hum Genet (1984) 1.50
A genetic linkage map of 17 markers on human chromosome 21. Genomics (1989) 1.50
Missense mutations in the pancreatic islet beta cell inwardly rectifying K+ channel gene (KIR6.2/BIR): a meta-analysis suggests a role in the polygenic basis of Type II diabetes mellitus in Caucasians. Diabetologia (1998) 1.46
Polymorphism in the 5' flanking region of the human insulin gene: a genetic marker for non-insulin-dependent diabetes. N Engl J Med (1983) 1.44
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
Guidelines for human linkage maps: an international system for human linkage maps (ISLM, 1990). Genomics (1991) 1.37
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
Variable effects of maturity-onset-diabetes-of-youth (MODY)-associated glucokinase mutations on substrate interactions and stability of the enzyme. Biochem J (1995) 1.30
Human glucagon-like peptide-1 receptor gene in NIDDM. Identification and use of simple sequence repeat polymorphisms in genetic analysis. Diabetes (1994) 1.28
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
A mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin-resistant diabetes. EMBO J (1989) 1.24
The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells. Hum Mol Genet (1995) 1.23
Missense polymorphism in the human carboxypeptidase E gene alters enzymatic activity. Hum Mutat (2001) 1.21
A meta-analytic investigation of linkage and association of common leptin receptor (LEPR) polymorphisms with body mass index and waist circumference. Int J Obes Relat Metab Disord (2002) 1.21
Multipoint gene mapping using seriation. II. Analysis of simulated and empirical data. Am J Hum Genet (1987) 1.21
Mice with beta cell overexpression of glycogen synthase kinase-3beta have reduced beta cell mass and proliferation. Diabetologia (2008) 1.20
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
Effect of glucose on initiation and elongation rates in isolated rat pancreatic islets. J Biol Chem (1974) 1.17
Genetic linkage map of fishes of the genus Xiphophorus (Teleostei: Poeciliidae). Genetics (1991) 1.16
Isolation of a biologically active messenger RNA: preparation from fish pancreatic islets by oligo(2'-deoxythymidylic acid) affinity chromatography. Ciba Found Symp (1976) 1.16
Conditional ablation of Gsk-3β in islet beta cells results in expanded mass and resistance to fat feeding-induced diabetes in mice. Diabetologia (2010) 1.15
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
Glucose transporter levels in spontaneously obese (db/db) insulin-resistant mice. J Clin Invest (1990) 1.14
Effects of glucose on proinsulin messenger RNA in rats in vivo. Diabetes (1982) 1.13
Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3. Genomics (1997) 1.12