Linkage disequilibrium mapping in isolated populations: The example of Finland revisited

Bootstrap Methods: Another Look at the Jackknife

1979 • 16,552 citations

Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

1980 • 8,270 citations

Lessons from Hereditary Colorectal Cancer

1996 • 4,900 citations

MUTATIONS OF BACTERIA FROM VIRUS SENSITIVITY TO VIRUS RESISTANCE

1943 • 3,852 citations

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1996 • 2,983 citations

Theoretical Statistics

1974 • 2,786 citations

Large-Scale Identification, Mapping, and Genotyping of Single-Nucleotide Polymorphisms in the Human Genome

1998 • 2,163 citations

Positionally Cloned Gene for a Novel Glomerular Protein—Nephrin—Is Mutated in Congenital Nephrotic Syndrome

1998 • 1,822 citations

Analysis of Human Genetic Linkage.

1992 • 1,770 citations

Positional cloning of the APECED gene

1997 • 1,385 citations

Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

1995 • 964 citations

Monte Carlo tests for associations between disease and alleles at highly polymorphic loci

1995 • 923 citations

DNA chips: State-of-the art

1998 • 794 citations

The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping

1994 • 751 citations

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

1995 • 725 citations

Analysis of Human Genetic Linkage.

1987 • 709 citations

Association of Mutations in a Lysosomal Protein with Classical Late-Infantile Neuronal Ceroid Lipofuscinosis

1997 • 578 citations

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

1992 • 571 citations

Analysis of Human Genetic Linkage

1992 • 555 citations

Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)

1996 • 542 citations

Positional cloning of the gene associated with X-linked juvenile retinoschisis

1997 • 473 citations

A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci.

1995 • 460 citations

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

1995 • 426 citations

Mutations of the Down–regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

1996 • 408 citations

Disease gene mapping in isolated human populations: the example of Finland.

1993 • 368 citations

Linkage disequilibrium in growing and stable populations.

1994 • 360 citations

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

1997 • 351 citations

The origin of the major cystic fibrosis mutation (ΔF508) in European populations

1994 • 349 citations

The Finnish population structure A genetic and genealogical study

2009 • 266 citations

DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer

1996 • 264 citations

Hereditary diseases in Finland; rare flora in rare soul.

1973 • 255 citations

Muscle-eye-brain disease (MEB)

1989 • 234 citations

Maximum-likelihood estimation of gene location by linkage disequilibrium.

1994 • 202 citations

Mutations Predisposing to Hereditary Nonpolyposis Colorectal Cancer

1997 • 198 citations

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

1997 • 193 citations

Mapping Complex Genetic Traits in Humans: New Methods Using a Complete RFLP Linkage Map

1986 • 187 citations

Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q

1995 • 184 citations

Gelsolin–derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187

1992 • 174 citations

Mapping a disease locus by allelic association

1998 • 163 citations

Fine-Scale Genetic Mapping Based on Linkage Disequilibrium: Theory and Applications

1997 • 159 citations

Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia.

1972 • 157 citations

Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22.

1991 • 154 citations

Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping

1993 • 149 citations

Likelihood methods for locating disease genes in nonequilibrium populations.

1995 • 144 citations

Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene

1990 • 134 citations

SOME APPLICATIONS OF MATHEMATICS TO BREEDING PROBLEMS

1917 • 130 citations

Congenital lactase deficiency. A clinical study on 16 patients.

1983 • 115 citations

The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21–q24

1995 • 112 citations

Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.

1994 • 111 citations

The genetics of XX gonadal dysgenesis.

1994 • 111 citations

Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus.

1995 • 108 citations

A lethal autosomal recessive syndrome of multiple congenital contractures

1985 • 106 citations

THE NUMERICAL RESULTS OF DIVERSE SYSTEMS OF BREEDING, WITH RESPECT TO TWO PAIRS OF CHARACTERS, LINKED OR INDEPENDENT, WITH SPECIAL RELATION TO THE EFFECTS OF LINKAGE

1917 • 104 citations

Human Genetics: The Molecular Challenge

1986 • 102 citations

Allelic disequilibrium and allele frequency distribution as a function of social and demographic history.

1997 • 100 citations

Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer.

1996 • 96 citations

Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families.

1994 • 96 citations

Likelihood Analysis of Disequilibrium Mapping, and Related Problems

1998 • 95 citations

Aberrant splicing of the CHM gene is a significant cause of choroideremia

1992 • 93 citations

Disequilibrium Mapping: Composite Likelihood for Pairwise Disequilibrium

1996 • 91 citations

SOME APPLICATIONS OF MATHEMATICS TO BREEDING PROBLEMS III

1918 • 91 citations

Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis

1993 • 91 citations

Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.

1992 • 90 citations

Assignment of the Tibial Muscular Dystrophy Locus to Chromosome 2q31

1998 • 88 citations

The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8.

1994 • 86 citations

Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis

1994 • 85 citations

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)

1991 • 82 citations

Linkage disequilibrium in Huntington's disease: an improved localisation for the gene.

1989 • 78 citations

The distribution of linkage disequilibrium over anonymous genome regions

1995 • 78 citations

Linkage Disequilibrium and Gene Mapping: An Empirical Least-Squares Approach

1998 • 78 citations

At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.

1989 • 78 citations

Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium.

1995 • 70 citations

The genetic structure of Finland

1976 • 69 citations

Diastrophic dysplasia gene maps to the distal long arm of chromosome 5.

1990 • 66 citations

Genetic mapping of disease genes

1997 • 63 citations

Diagnostic criteria and genetics of the PEHO syndrome.

1993 • 63 citations

High-Resolution Physical and Transcriptional Mapping of the Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy Locus on Chromosome 21q22.3 by FISH

1997 • 61 citations

Refined Assignment of the Infantile Neuronal Ceroid Lipofuscinosis (INCL, CLN1) Locus at 1p32: Incorporation of Linkage Disequilibrium in Multipoint Analysis

1993 • 61 citations

High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene.

1994 • 60 citations

Hydrolethalus syndrome.

1990 • 57 citations

Assignment of the Disease Locus for Lethal Congenital Contracture Syndrome to a Restricted Region of Chromosome 9q34, by Genome Scan Using Five Affected Individuals

1998 • 57 citations

Efficient Construction of a Physical Map by Fiber-Fish of the CLN5 Region: Refined Assignment and Long-Range Contig Covering the Critical Region on 13q22

1996 • 56 citations

Toward Cloning of a Novel Ataxia Gene: Refined Assignment and Physical Map of the IOSCA Locus (SCA8) on 10q24

1997 • 55 citations

Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene.

1996 • 54 citations

Lysinuric Protein Intolerance (LPI) Gene Maps to the Long Arm of Chromosome 14

1997 • 53 citations

The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator.

1993 • 49 citations

Design and sample-size considerations in the detection of linkage disequilibrium with a disease locus.

1994 • 46 citations

Assignment of the Locus for PLO-SL, a Frontal-Lobe Dementia with Bone Cysts, to 19q13

1998 • 45 citations

Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene?

1992 • 45 citations

Refined localization of the gene causing X-linked juvenile retinoschisis

1991 • 41 citations

Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q.

1996 • 37 citations

Refined Mapping of the Cohen Syndrome Gene by Linkage Disequilibrium

1997 • 36 citations

Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage.

1995 • 36 citations

Infantile neuronal ceroid lipofuscinosis (CLN1): Linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus

1991 • 36 citations

Refined mapping of the Cohen syndrome gene by linkage disequilibrium.

1997 • 35 citations

Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis

1995 • 33 citations

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene

1998 • 33 citations

Refined Mapping of the Usher Syndrome Type III Locus on Chromosome 3, Exclusion of Candidate Genes, and Identification of the Putative Mouse Homologous Region

1996 • 33 citations

Fine-Scale Mapping of Quantitative Trait Loci Using Historical Recombinations

1997 • 32 citations

The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.

1994 • 32 citations

High-Resolution Mapping and Transcript Identification at the Progressive Epilepsy with Mental Retardation Locus on Chromosome 8p

1997 • 30 citations

Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis.

1997 • 30 citations

Linkage Mapping in Experimental Crosses: The Robustness of Single-Gene Models

1997 • 29 citations

Are moment bounds on the recombination fraction between a marker and a disease locus too good to be true? Allelic association mapping revisited for simple genetic diseases in the Finnish population.

1995 • 29 citations

Hidden linkage: a comparison of the affected sib pair (ASP) test and transmission/disequilibrium test (TDT)

1998 • 28 citations

Haplotype analysis to determine the position of a mutation among closely linked DNA markers

1993 • 21 citations

Asymptotic theory for gene mapping.

1994 • 19 citations

Linkage Disequilibrium Mapping of the Cornea Plana Congenita Gene CNA2

1995 • 18 citations

Haplotype and multipoint linkage analysis in Finnish choroideremia families

1989 • 14 citations

Haplotype analysis of congenital nephrotic syndrome of the Finnish type in non-Finnish families.

1996 • 12 citations

Mutations causing aspartylglucosaminuria (AGU): A lysosomal accumulation disease

1992 • 12 citations

The minisatellite expansion mutation in EPM1: resolution of an initial discrepancy. Mutatations in brief no. 186. Online.

1998 • 8 citations