Likelihood methods for locating disease genes in nonequilibrium populations.

Identification of the Cystic Fibrosis Gene: Genetic Analysis

1989 • 4,105 citations

Update on Key Emerging Challenges in Cystic Fibrosis

2014 • 3,606 citations

Therapy of CF-Patients with Amitriptyline and Placebo - a Randomised, Double-Blind, Placebo-Controlled Phase IIb Multicenter, Cohort-Study

2013 • 2,504 citations

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

1994 • 751 citations

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

1992 • 571 citations

Variances and covariances of squared linkage disequilibria in finite populations

1988 • 481 citations

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

1993 • 368 citations

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

1994 • 349 citations

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

1987 • 339 citations

Mapping of mutation causing Friedreich's ataxia to human chromosome 9

1988 • 307 citations

EFFECT OF MATING STRUCTURE ON VARIATION IN LINKAGE DISEQUILIBRIUM

1980 • 190 citations

Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study.

1986 • 165 citations

The Huntington's disease candidate region exhibits many different haplotypes

1992 • 157 citations

Localization of the huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere

1987 • 126 citations

Huntington disease without CAG expansion: phenocopies or errors in assignment?

1994 • 106 citations

Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics

1990 • 99 citations

Linkage disequilibrium, cystic fibrosis, and genetic counseling.

1989 • 94 citations

Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages.

1983 • 79 citations

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

1989 • 78 citations

Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.

1989 • 77 citations

Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study.

1988 • 73 citations

Complex patterns of linkage disequilibrium in the Huntington disease region.

1991 • 72 citations

Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes.

1992 • 60 citations

Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia.

1990 • 56 citations

The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15.

1990 • 54 citations

Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene.

1989 • 54 citations

Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval.

1994 • 47 citations

Mapping ofD4S98/S114/S113confines the Huntington's defect to a reduced physical region at the telomere of chromosome 4

1988 • 45 citations

Friedreich ataxia in Italian families: genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15.

1990 • 44 citations

Expected behavior of conditional linkage disequilibrium.

1992 • 33 citations

Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q.

1993 • 28 citations

Nonrandom association between huntington disease and two loci separated by about 3 Mb on 4p16.3

1992 • 28 citations

Linkage disequilibrium and modification of risk for Huntington disease.

1991 • 20 citations

Significant linkage disequilibrium between the Huntington disease gene and the loci D4S10 and D4S95 in the Dutch population.

1992 • 8 citations