Published in Genome Res on September 01, 2000
Distribution of recombination crossovers and the origin of haplotype blocks: the interplay of population history, recombination, and mutation. Am J Hum Genet (2002) 4.29
Male mouse recombination maps for each autosome identified by chromosome painting. Am J Hum Genet (2002) 2.00
A linkage map for brown trout (Salmo trutta): chromosome homeologies and comparative genome organization with other salmonid fish. Genetics (2006) 1.89
Variation in crossing-over rates across chromosome 4 of Arabidopsis thaliana reveals the presence of meiotic recombination "hot spots". Genome Res (2005) 1.70
New insights into human nondisjunction of chromosome 21 in oocytes. PLoS Genet (2008) 1.68
Patterns of meiotic recombination in human fetal oocytes. Am J Hum Genet (2002) 1.59
Linkage mapping reveals sex-dimorphic map distances in a passerine bird. Proc Biol Sci (2005) 1.29
Development of a Chinese-Indian hybrid (Chindian) rhesus macaque colony at the California National Primate Research Center by introgression. J Med Primatol (2008) 1.12
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements. Hum Mol Genet (2011) 1.05
A first-generation microsatellite-based genetic linkage map of the Siberian jay (Perisoreus infaustus): insights into avian genome evolution. BMC Genomics (2009) 1.03
X chromosome effect on maternal recombination and meiotic drive in the mouse. Genetics (2002) 1.00
Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination. Am J Hum Genet (2007) 0.94
Meiotic crossover patterns: obligatory crossover, interference and homeostasis in a single process. Cell Cycle (2015) 0.87
Systematic evaluation of map quality: human chromosome 22. Am J Hum Genet (2002) 0.85
Parental origin of chromosomes influences crossover activity within the Kcnq1 transcriptionally imprinted domain of Mus musculus. BMC Mol Biol (2009) 0.83
Meiotic exchange and segregation in female mice heterozygous for paracentric inversions. Genetics (2004) 0.80
Absence of age effect on meiotic recombination between human X and Y chromosomes. Am J Hum Genet (2002) 0.79
Obligate short-arm exchange in de novo Robertsonian translocation formation influences placement of crossovers in chromosome 21 nondisjunction. Am J Hum Genet (2002) 0.78
A linkage search for joint panic disorder/bipolar genes. Am J Med Genet B Neuropsychiatr Genet (2009) 0.77
Initial sequencing and analysis of the human genome. Nature (2001) 212.86
Design and analysis of randomized clinical trials requiring prolonged observation of each patient. II. analysis and examples. Br J Cancer (1977) 53.23
Identification of the cystic fibrosis gene: genetic analysis. Science (1989) 33.61
Design and analysis of randomized clinical trials requiring prolonged observation of each patient. I. Introduction and design. Br J Cancer (1976) 22.55
Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet (1999) 17.09
Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science (2001) 15.54
A gene map of the human genome. Science (1996) 14.32
Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc Natl Acad Sci U S A (1989) 13.66
Comparative analyses of multi-species sequences from targeted genomic regions. Nature (2003) 13.31
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat (2000) 13.25
A physical map of 30,000 human genes. Science (1998) 12.43
A physical map of the human genome. Nature (2001) 12.39
Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature (2001) 10.96
The DNA sequence of human chromosome 21. Nature (2000) 10.66
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature (1982) 9.47
An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing. Science (2001) 8.73
New goals for the U.S. Human Genome Project: 1998-2003. Science (1998) 8.30
Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science (1996) 8.06
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
Nomenclature for the description of human sequence variations. Hum Genet (2001) 7.90
A DNA polymorphism discovery resource for research on human genetic variation. Genome Res (1998) 7.44
Report of the Committee on the Genetic Constitution of Chromosomes 13, 14, 15 and 16. Cytogenet Cell Genet (1985) 6.87
Positive and negative effects of widespread badger culling on tuberculosis in cattle. Nature (2005) 6.64
Beta-globin locus is linked to the parathyroid hormone (PTH) locus and lies between the insulin and PTH loci in man. Proc Natl Acad Sci U S A (1983) 6.50
Structure and variability of human chromosome ends. Mol Cell Biol (1990) 6.18
Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature (1988) 6.01
Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster. Proc Natl Acad Sci U S A (1982) 5.85
Positional cloning of the APECED gene. Nat Genet (1997) 5.47
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature (1990) 5.42
High-throughput variation detection and genotyping using microarrays. Genome Res (2001) 5.24
Hypoxia-inducible nuclear factors bind to an enhancer element located 3' to the human erythropoietin gene. Proc Natl Acad Sci U S A (1991) 4.84
Impact of localized badger culling on tuberculosis incidence in British cattle. Nature (2003) 4.84
Accumulation of hydroxyproline-rich glycoprotein mRNAs in response to fungal elicitor and infection. Proc Natl Acad Sci U S A (1985) 4.38
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
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet (1993) 4.12
TB policy and the badger culling trials. Vet Rec (2006) 4.02
OMIM passes the 1,000-disease-gene mark. Nat Genet (2000) 3.92
Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A. Nat Genet (1995) 3.74
The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome. Proc Natl Acad Sci U S A (1990) 3.72
Positive selection of a gene family during the emergence of humans and African apes. Nature (2001) 3.68
TB policy and the badger culling trials. Vet Rec (2006) 3.67
An STS-based radiation hybrid map of the human genome. Genome Res (1997) 3.57
High-throughput genotyping with single nucleotide polymorphisms. Genome Res (2001) 3.55
Differential accumulation of plant defense gene transcripts in a compatible and an incompatible plant-pathogen interaction. Mol Cell Biol (1986) 3.42
Methods for estimating the case fatality ratio for a novel, emerging infectious disease. Am J Epidemiol (2005) 3.40
Expression during embryogenesis of a mouse gene with sequence homology to the Drosophila engrailed gene. Cell (1985) 3.30
Bovine tuberculosis: towards a future control strategy. Vet Rec (2000) 3.27
Basic fallacies in the formulation of the paternity index. Am J Hum Genet (1985) 3.18
Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nat Genet (1996) 3.13
Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. J Nerv Ment Dis (1994) 3.12
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
Evolutionarily conserved sequences on human chromosome 21. Genome Res (2001) 2.95
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
Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP. Nat Cell Biol (2001) 2.75
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) Science (1996) 2.73
Differential induction of chalcone synthase mRNA activity at the onset of phytoalexin accumulation in compatible and incompatible plant-pathogen interactions. Proc Natl Acad Sci U S A (1984) 2.66
A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation. Nat Genet (1995) 2.63
Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots. Nature (1987) 2.49
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
Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. Nat Genet (1992) 2.40
Patterns of genetic variation in Mendelian and complex traits. Annu Rev Genomics Hum Genet (2000) 2.37
Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. N Engl J Med (1990) 2.37
Quality of life measures in health care. III: Resource allocation. BMJ (1992) 2.31
A genetic study of Hirschsprung disease. Am J Hum Genet (1990) 2.30
It's raining SNPs, hallelujah? Nat Genet (1998) 2.30
Co-ordinated synthesis of phytoalexin biosynthetic enzymes in biologically-stressed cells of bean (Phaseolus vulgaris L.). EMBO J (1985) 2.28
Polycythemia in transgenic mice expressing the human erythropoietin gene. Proc Natl Acad Sci U S A (1989) 2.27
Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome. Science (1987) 2.27
Structure of mouse kallikrein gene family suggests a role in specific processing of biologically active peptides. Nature (1983) 2.25
Evidence for multiple origins of the beta E-globin gene in Southeast Asia. Proc Natl Acad Sci U S A (1982) 2.24
Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients. Am J Med Genet (1997) 2.17
Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. Genomics (1989) 2.16
Statistical methods for multipoint radiation hybrid mapping. Am J Hum Genet (1991) 2.16
Genetic linkage analysis of bipolar affective disorder in an Old Order Amish pedigree. Hum Genet (1992) 2.15
Exon trapping: a genetic screen to identify candidate transcribed sequences in cloned mammalian genomic DNA. Proc Natl Acad Sci U S A (1990) 2.15
Statistical methods for polyploid radiation hybrid mapping. Genome Res (1995) 2.15
Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA: a GABA receptor subunit highly expressed in the retina. Proc Natl Acad Sci U S A (1991) 2.10
Cell-type-specific and hypoxia-inducible expression of the human erythropoietin gene in transgenic mice. Proc Natl Acad Sci U S A (1991) 2.09
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature (1997) 2.09
DNA polymorphism and molecular pathology of the human globin gene clusters. Hum Genet (1985) 2.09
Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination. Hum Mol Genet (1994) 2.07
Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia. N Engl J Med (1983) 2.06
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nat Genet (2001) 2.06
Molecular characterization of seven beta-thalassemia mutations in Asian Indians. EMBO J (1984) 2.04
Impacts of widespread badger culling on cattle tuberculosis: concluding analyses from a large-scale field trial. Int J Infect Dis (2007) 2.03