Published in Proc Natl Acad Sci U S A on June 01, 1984
Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet (1985) 87.59
Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet (1996) 39.80
Construction of multilocus genetic linkage maps in humans. Proc Natl Acad Sci U S A (1987) 35.83
PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet (1998) 23.25
Faster sequential genetic linkage computations. Am J Hum Genet (1993) 18.83
Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet (1996) 17.95
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet (1998) 15.09
Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium. Am J Hum Genet (1993) 11.01
Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet (1995) 9.06
Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet (1995) 6.51
Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers. Am J Hum Genet (2005) 6.12
A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set. Am J Hum Genet (2003) 5.34
A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N Engl J Med (2009) 5.20
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet (2007) 5.17
Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus. Proc Natl Acad Sci U S A (1997) 4.89
Estimating the power of a proposed linkage study for a complex genetic trait. Am J Hum Genet (1989) 4.42
Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol (2007) 4.27
Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage. Am J Hum Genet (1991) 4.19
A primary genetic map of chromosome 13q. Am J Hum Genet (1986) 4.01
Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study. Am J Hum Genet (1986) 3.83
Two-trait-locus linkage analysis: a powerful strategy for mapping complex genetic traits. Am J Hum Genet (1993) 3.76
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. Am J Hum Genet (1998) 3.64
SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease. Am J Hum Genet (2000) 3.58
A random walk method for computing genetic location scores. Am J Hum Genet (1991) 3.45
Efficient computations in multilocus linkage analysis. Am J Hum Genet (1988) 3.39
A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome. Neuron (2010) 3.31
Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet (2004) 3.21
New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study. Proc Natl Acad Sci U S A (1998) 3.14
Multipoint linkage analysis. Am J Hum Genet (1986) 3.12
Error detection for genetic data, using likelihood methods. Am J Hum Genet (1996) 3.11
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet (1998) 3.08
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci (2006) 2.93
Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. Am J Hum Genet (2009) 2.89
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet (2003) 2.88
Linkage analysis in the presence of errors IV: joint pseudomarker analysis of linkage and/or linkage disequilibrium on a mixture of pedigrees and singletons when the mode of inheritance cannot be accurately specified. Am J Hum Genet (2000) 2.85
Influence of aberrant observations on high-resolution linkage analysis outcomes. Am J Hum Genet (1991) 2.84
Connexin46 mutations in autosomal dominant congenital cataract. Am J Hum Genet (1999) 2.79
A new gene (DYX3) for dyslexia is located on chromosome 2. J Med Genet (1999) 2.72
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet (1994) 2.71
Parametric and nonparametric multipoint linkage analysis with imprinting and two-locus-trait models: application to mite sensitization. Am J Hum Genet (2000) 2.70
Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet (2001) 2.68
A full-likelihood method for the evaluation of causality of sequence variants from family data. Am J Hum Genet (2003) 2.66
Susceptibility loci for distinct components of developmental dyslexia on chromosomes 6 and 15. Am J Hum Genet (1997) 2.65
Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet (1999) 2.63
Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5. Am J Hum Genet (1989) 2.56
A genomewide screen of 345 families for autism-susceptibility loci. Am J Hum Genet (2003) 2.51
Linkage analysis in the presence of errors III: marker loci and their map as nuisance parameters. Am J Hum Genet (2000) 2.35
Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis. Nucleic Acids Res (1986) 2.34
Combined linkage and segregation analysis using regressive models. Am J Hum Genet (1988) 2.33
Clustering of multiallele DNA markers near the Huntington's disease gene. J Clin Invest (1989) 2.25
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. J Clin Invest (2008) 2.24
Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. Am J Hum Genet (2003) 2.23
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet (2000) 2.17
From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proc Natl Acad Sci U S A (2002) 2.17
Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes? Am J Hum Genet (1997) 2.15
A genomewide screen for schizophrenia genes in an isolated Finnish subpopulation, suggesting multiple susceptibility loci. Am J Hum Genet (1999) 2.15
Human genes for three complement components that regulate the activation of C3 are tightly linked. J Exp Med (1985) 2.12
Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families. Am J Hum Genet (1995) 2.12
Evidence for a rare prostate cancer-susceptibility locus at chromosome 1p36. Am J Hum Genet (1999) 2.12
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet (2007) 2.09
Evidence for linkage of bipolar disorder to chromosome 18 with a parent-of-origin effect. Am J Hum Genet (1995) 2.09
Linkage analysis of human leukocyte antigen (HLA) markers in familial psoriasis: strong disequilibrium effects provide evidence for a major determinant in the HLA-B/-C region. Am J Hum Genet (1998) 2.09
Localization of an ataxia-telangiectasia gene to an approximately 500-kb interval on chromosome 11q23.1: linkage analysis of 176 families by an international consortium. Am J Hum Genet (1995) 2.07
Linkage analysis in the presence of errors I: complex-valued recombination fractions and complex phenotypes. Am J Hum Genet (2000) 2.05
Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers. Am J Hum Genet (2006) 2.04
The EPHA2 gene is associated with cataracts linked to chromosome 1p. Mol Vis (2008) 2.04
A model for embryonal rhabdomyosarcoma tumorigenesis that involves genome imprinting. Proc Natl Acad Sci U S A (1989) 2.02
Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28. Am J Hum Genet (1997) 1.99
Linkage analysis in the presence of errors II: marker-locus genotyping errors modeled with hypercomplex recombination fractions. Am J Hum Genet (2000) 1.98
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest (2000) 1.97
Linkage of familial schizophrenia to chromosome 13q32. Am J Hum Genet (1999) 1.96
Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. Am J Hum Genet (1992) 1.94
Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2. J Clin Invest (1996) 1.94
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet (2005) 1.94
Evidence that a locus for familial high myopia maps to chromosome 18p. Am J Hum Genet (1998) 1.93
Error filtration, interference, and the human linkage map. Proc Natl Acad Sci U S A (1991) 1.91
Use of X-linked markers for forensic purposes. Int J Legal Med (2003) 1.91
Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7. Am J Hum Genet (1991) 1.89
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. Am J Hum Genet (2000) 1.86
Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2006) 1.85
Accurate and superaccurate gene mapping. Am J Hum Genet (1985) 1.85
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet (2000) 1.84
Molecular and statistical approaches to the detection and correction of errors in genotype databases. Am J Hum Genet (1993) 1.84
Fine-structure genetic mapping of human chromosomes using the polymerase chain reaction on single sperm: experimental design considerations. Am J Hum Genet (1989) 1.83
Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8. Am J Hum Genet (1995) 1.82
Single nucleotide polymorphism discovery in rainbow trout by deep sequencing of a reduced representation library. BMC Genomics (2009) 1.81
A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci U S A (1988) 1.80
Fine structure DNA mapping studies of the chromosomal region harboring the genetic defect in neurofibromatosis type I. Am J Hum Genet (1989) 1.80
A major susceptibility locus for specific language impairment is located on 13q21. Am J Hum Genet (2002) 1.79
Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. Am J Hum Genet (1999) 1.78
An exclusion map for pre-eclampsia: assuming autosomal recessive inheritance. Am J Hum Genet (1992) 1.78
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. Am J Hum Genet (2006) 1.78
Microsatellite mapping of the gene causing weaver disease in cattle will allow the study of an associated quantitative trait locus. Proc Natl Acad Sci U S A (1993) 1.77
Genetic heterogeneity in families with hereditary multiple exostoses. Am J Hum Genet (1993) 1.77
Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes. Am J Hum Genet (1993) 1.74
Constructing large-scale genetic maps using an evolutionary strategy algorithm. Genetics (2003) 1.73
Linkage of familial breast cancer to chromosome 17q21 may not be restricted to early-onset disease. Am J Hum Genet (1992) 1.71
Comparison of a multipoint identity-by-descent method with parametric multipoint linkage analysis for mapping quantitative traits. Am J Hum Genet (1992) 1.71
Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21. Am J Hum Genet (1994) 1.71
A second generation genetic map for rainbow trout (Oncorhynchus mykiss). BMC Genet (2008) 1.68
Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet (1980) 75.25
Sequential tests for the detection of linkage. Am J Hum Genet (1955) 43.74
Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet (1974) 23.66
Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature (1982) 11.57
Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. Nucleic Acids Res (1983) 8.92
Linkage group I: the simultaneous estimation of recombination and interference. Birth Defects Orig Artic Ser (1976) 8.63
The use of computers. Cytogenet Cell Genet (1982) 8.57
Resolution of linkage for irregular phenotype systems. Hum Hered (1981) 6.99
How many polymorphic genes will it take to span the human genome? Am J Hum Genet (1982) 5.11
An analysis procedure illustrated on a triple linkage of use for prenatal diagnosis of myotonic dystrophy. J Med Genet (1971) 4.64
Somatic cell genetics and gene families. Science (1983) 4.61
A maximum likelihood map of chromosome 1. Am J Hum Genet (1979) 4.34
Linkage mapping from pair-wise recombination data. Heredity (Edinb) (1977) 4.32
The use of lod scores for the determination of the order of loci on a chromosome. Ann Hum Genet (1975) 3.99
Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet (1985) 87.59
Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet (1984) 28.51
Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet (1974) 23.66
Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome. Genomics (1990) 13.23
The rapid generation of oligonucleotide-directed mutations at high frequency using phosphorothioate-modified DNA. Nucleic Acids Res (1985) 12.11
Trimming, weighting, and grouping SNPs in human case-control association studies. Genome Res (2001) 9.41
Construction of human linkage maps: likelihood calculations for multilocus linkage analysis. Genet Epidemiol (1986) 8.95
A haplotype-based 'haplotype relative risk' approach to detecting allelic associations. Hum Hered (1992) 8.71
A closely linked genetic marker for cystic fibrosis. Nature (1985) 7.85
Resolution of linkage for irregular phenotype systems. Hum Hered (1981) 6.99
Report of the Committee on the Genetic Constitution of Chromosomes 17, 18 and 19. Cytogenet Cell Genet (1985) 6.88
Molecular basis of human hypertension: role of angiotensinogen. Cell (1992) 6.07
A computer program for linkage analysis of general human pedigrees. Am J Hum Genet (1976) 6.01
A unified model for complex segregation analysis. Am J Hum Genet (1983) 5.67
Report of the Committee on Methods of Linkage Analysis and Reporting. Cytogenet Cell Genet (1985) 5.61
Complex segregation analysis with pointers. Hum Hered (1981) 5.59
Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3) Nature (1996) 5.32
Chromosome-based method for rapid computer simulation in human genetic linkage analysis. Genet Epidemiol (1993) 4.98
Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome. Nature (1989) 4.69
Counting methods (EM algorithm) in human pedigree analysis: linkage and segregation analysis. Ann Hum Genet (1977) 4.54
EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. Nat Genet (2000) 4.48
A maximum likelihood map of chromosome 1. Am J Hum Genet (1979) 4.34
Contribution of genes of the major histocompatibility complex to susceptibility and disease phenotype in inflammatory bowel disease. Lancet (1996) 4.33
Linkage mapping from pair-wise recombination data. Heredity (Edinb) (1977) 4.32
A primary genetic map of markers of human chromosome 10. Genomics (1988) 4.23
Relationship estimation in affected sib pair analysis of late-onset diseases. Eur J Hum Genet (1997) 4.16
Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12. Nat Genet (1996) 4.09
A primary genetic map of chromosome 13q. Am J Hum Genet (1986) 4.01
Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study. Am J Hum Genet (1986) 3.83
Evaluating pedigree data. I. The estimation of pedigree error in the presence of marker mistyping. Am J Hum Genet (1983) 3.82
Linkage analysis and family classification under heterogeneity. Ann Hum Genet (1983) 3.76
Two-trait-locus linkage analysis: a powerful strategy for mapping complex genetic traits. Am J Hum Genet (1993) 3.76
Chromosomal mapping of two genetic loci associated with blood-pressure regulation in hereditary hypertensive rats. Nature (1991) 3.74
A genome-wide search for quantitative trait loci underlying asthma. Nature (1996) 3.58
A mapped set of DNA markers for human chromosome 17. Genomics (1988) 3.55
A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature (1992) 3.40
Efficient computations in multilocus linkage analysis. Am J Hum Genet (1988) 3.39
Maximum likelihood estimation by counting methods under polygenic and mixed models in human pedigrees. Am J Hum Genet (1979) 3.36
Elements of a paracrine tubular renin-angiotensin system along the entire nephron. Hypertension (1999) 3.33
True and false positive peaks in genomewide scans: applications of length-biased sampling to linkage mapping. Am J Hum Genet (1997) 3.28
A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q. Am J Hum Genet (2001) 3.26
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat Genet (1999) 3.25
Genotyping and sequence analysis of apolipoprotein E isoforms. Genomics (1988) 3.20
Isolation and mapping of a polymorphic DNA sequence (pTHH22) on chromosome 9 [D9S12]. Nucleic Acids Res (1988) 3.17
The p53MH algorithm and its application in detecting p53-responsive genes. Proc Natl Acad Sci U S A (2002) 3.11
A simple scheme for the analysis of HLA linkages in pedigrees. Ann Hum Genet (1978) 3.01
Localisation of atopy and beta subunit of high-affinity IgE receptor (Fc epsilon RI) on chromosome 11q. Lancet (1993) 2.88
A mapped set of genetic markers for human chromosome 9. Genomics (1988) 2.80
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet (1993) 2.79
Report of the committee on linkage and gene order. Cytogenet Cell Genet (1989) 2.76
Trans-ethnic fine mapping of a quantitative trait locus for circulating angiotensin I-converting enzyme (ACE). Hum Mol Genet (2001) 2.75
A primary genetic linkage map for human chromosome 12. Genomics (1987) 2.72
A transmission/disequilibrium test that allows for genotyping errors in the analysis of single-nucleotide polymorphism data. Am J Hum Genet (2001) 2.68
Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR. Nat Genet (1993) 2.56
A radiation hybrid map of the rat genome containing 5,255 markers. Nat Genet (1999) 2.54
Measured haplotype analysis of the angiotensin-I converting enzyme gene. Hum Mol Genet (1998) 2.53
Linkage studies in a large kindred with familial hypercholesterolemia. Am J Hum Genet (1974) 2.49
Measuring the inflation of the lod score due to its maximization over model parameter values in human linkage analysis. Genet Epidemiol (1990) 2.47
Evaluating pedigree data. II. Identifying the cause of error in families with inconsistencies. Hum Hered (1983) 2.45
Predisposition to familial osteoarthrosis linked to type II collagen gene. Lancet (1989) 2.43
Identification of a major susceptibility locus on chromosome 6p and evidence for further disease loci revealed by a two stage genome-wide search in psoriasis. Hum Mol Genet (1997) 2.43
A microsatellite genetic linkage map of human chromosome 18. Genomics (1993) 2.35
Combined linkage and segregation analysis using regressive models. Am J Hum Genet (1988) 2.33
Genetic analysis of an inherited predisposition to colon cancer in a family with a variable number of adenomatous polyps. N Engl J Med (1990) 2.32
A genomewide screen for autism susceptibility loci. Am J Hum Genet (2001) 2.30
Identification of a novel common genetic risk factor for lumbar disk disease. JAMA (2001) 2.28
A nucleotide substitution in the promoter of human angiotensinogen is associated with essential hypertension and affects basal transcription in vitro. J Clin Invest (1997) 2.23
Alopecia universalis associated with a mutation in the human hairless gene. Science (1998) 2.23
Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. Arch Ophthalmol (1998) 2.19
A chi-square test to distinguish allelic association from other causes of phenotypic association between two loci. Genet Epidemiol (1985) 2.15
Genetic linkage analysis of bipolar affective disorder in an Old Order Amish pedigree. Hum Genet (1992) 2.15
A detailed genetic map of the long arm of chromosome 11. Genomics (1990) 2.11
The CEPH consortium linkage map of human chromosome 1. Genomics (1991) 2.09
Risk calculations under heterogeneity. Am J Hum Genet (1989) 2.07
Selecting SNPs in two-stage analysis of disease association data: a model-free approach. Ann Hum Genet (2000) 2.05
Maternal inheritance of atopic IgE responsiveness on chromosome 11q. Lancet (1992) 2.05
A new method to test genetic models in HLA associated diseases: the MASC method. Ann Hum Genet (1988) 2.03
Genetic susceptibility to heroin addiction: a candidate gene association study. Genes Brain Behav (2008) 2.00
Polygenic control of autoimmune diabetes in nonobese diabetic mice. Nat Genet (1993) 1.98
Robustness and power of the unified model in the analysis of quantitative measurements. Am J Hum Genet (1986) 1.98
Mapping of a gene determining tuberous sclerosis to human chromosome 11q14-11q23. Genomics (1990) 1.90
Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7. Am J Hum Genet (1991) 1.89
Linkage analysis with misclassification at one locus. Clin Genet (1977) 1.89
True pedigree errors more frequent than apparent errors for single nucleotide polymorphisms. Hum Hered (1999) 1.88
Tests of gene order from three-locus linkage data. Ann Hum Genet (1987) 1.87
An allele of COL9A2 associated with intervertebral disc disease. Science (1999) 1.85
Molecular and statistical approaches to the detection and correction of errors in genotype databases. Am J Hum Genet (1993) 1.84
Polygenic disease: methods for mapping complex disease traits. Trends Genet (1995) 1.81