Published in Hum Mol Genet on March 01, 1995
Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array. Genome Res (2004) 5.59
An autosomal genomic scan for loci linked to type II diabetes mellitus and body-mass index in Pima Indians. Am J Hum Genet (1998) 3.16
Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: evidence for epistasis between 1p and IBD1. Proc Natl Acad Sci U S A (1998) 2.88
An autosomal genomic scan for loci linked to prediabetic phenotypes in Pima Indians. J Clin Invest (1998) 2.18
Improved set of short-tandem-repeat polymorphisms for screening the human genome. Am J Hum Genet (1997) 2.03
Evidence that a locus for familial high myopia maps to chromosome 18p. Am J Hum Genet (1998) 1.93
Autosomal genomic scan for loci linked to obesity and energy metabolism in Pima Indians. Am J Hum Genet (1998) 1.78
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
STRP screening sets for the human genome at 5 cM density. BMC Genomics (2003) 1.53
A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2. Am J Hum Genet (1995) 1.35
Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33. Am J Hum Genet (1998) 1.33
Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q. Am J Hum Genet (2001) 1.30
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. Am J Hum Genet (2001) 1.21
Assignment of the tibial muscular dystrophy locus to chromosome 2q31. Am J Hum Genet (1998) 1.17
Genomewide search for genes influencing percent body fat in Pima Indians: suggestive linkage at chromosome 11q21-q22. Pima Diabetes Gene Group. Am J Hum Genet (1997) 1.17
Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2. J Med Genet (1996) 1.10
Allelic loss on chromosome 10q in human lung cancer: association with tumour progression and metastatic phenotype. Br J Cancer (1998) 0.93
Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype. Am J Hum Genet (2000) 0.91
Genome-wide linkage analysis of pulmonary function in families of children with asthma in Costa Rica. Thorax (2006) 0.90
Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2. Am J Hum Genet (2000) 0.87
Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q. J Med Genet (1998) 0.80
Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet (1998) 19.35
Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humain. Am J Hum Genet (1999) 10.94
Structure of the gene encoding the immunodominant surface antigen on the sporozoite of the human malaria parasite Plasmodium falciparum. Science (1984) 8.18
Identification of a gene that causes primary open angle glaucoma. Science (1997) 8.14
Evidence that the diabetes gene encodes the leptin receptor: identification of a mutation in the leptin receptor gene in db/db mice. Cell (1996) 7.45
Comparison of human genetic and sequence-based physical maps. Nature (2001) 4.97
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet (2000) 4.81
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet (1997) 4.43
Genetic mapping of a locus predisposing to human colorectal cancer. Science (1993) 4.12
A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). Science (1994) 4.02
Closing in on a breast cancer gene on chromosome 17q. Am J Hum Genet (1992) 3.89
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet (2001) 3.57
A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. Hum Mol Genet (1995) 3.44
Estimation of pairwise relationships in the presence of genotyping errors. Am J Hum Genet (1998) 3.37
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet (1999) 3.32
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet (1998) 3.24
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet (1999) 3.24
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) N Engl J Med (1998) 3.18
A familial Alzheimer's disease locus on chromosome 1. Science (1995) 3.14
Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science (1992) 3.14
Integrated human genome-wide maps constructed using the CEPH reference panel. Nat Genet (1994) 3.06
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet (2001) 3.06
Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. Am J Hum Genet (1995) 3.02
Survey of human and rat microsatellites. Genomics (1992) 2.92
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat Genet (2001) 2.77
Genetic analysis of indefinite division in human cells: evidence for a cell senescence-related gene(s) on human chromosome 4. Proc Natl Acad Sci U S A (1991) 2.64
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Mol Genet (2001) 2.56
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA (1999) 2.56
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet (1998) 2.53
Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet (1996) 2.53
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Mol Genet (1994) 2.52
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum Mol Genet (1995) 2.50
Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet (2000) 2.45
Characterization of human crossover interference. Am J Hum Genet (2000) 2.42
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. Am J Hum Genet (1999) 2.42
Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol (2001) 2.38
The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet (1999) 2.32
Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet (1993) 2.24
Genomewide search for type 2 diabetes susceptibility genes in four American populations. Am J Hum Genet (2000) 2.19
Efficacy of murine malaria sporozoite vaccines: implications for human vaccine development. Science (1987) 2.17
A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nat Genet (1995) 2.16
Pitfalls in homozygosity mapping. Am J Hum Genet (2000) 2.12
Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet (1990) 2.09
Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Arch Ophthalmol (1993) 2.05
Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nat Genet (1993) 2.05
Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol (1994) 2.05
Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family. Cell (1996) 2.04
Improved set of short-tandem-repeat polymorphisms for screening the human genome. Am J Hum Genet (1997) 2.03
Neuregulin-2, a new ligand of ErbB3/ErbB4-receptor tyrosine kinases. Nature (1997) 1.90
An analysis of allelic variation in the ABCA4 gene. Invest Ophthalmol Vis Sci (2001) 1.90
Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol (2000) 1.89
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. Invest Ophthalmol Vis Sci (2000) 1.84
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. Nat Genet (1998) 1.80
Examination of AVPR1a as an autism susceptibility gene. Mol Psychiatry (2004) 1.80
Plasmodium berghei: cloning of the circumsporozoite protein gene. Exp Parasitol (1987) 1.80
Alu repeats: a source for the genesis of primate microsatellites. Genomics (1995) 1.79
Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nat Genet (1992) 1.77
Epitope map and processing scheme for the 195,000-dalton surface glycoprotein of Plasmodium falciparum merozoites deduced from cloned overlapping segments of the gene. Proc Natl Acad Sci U S A (1986) 1.77
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat (2001) 1.77
A gene responsible for cavernous malformations of the brain maps to chromosome 7q. Hum Mol Genet (1995) 1.74
Polymorphism near the rat prolactin gene caused by insertion of an Alu-like element. Nature (1983) 1.72
Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21. Hum Genet (1994) 1.72
Structure of the circumsporozoite protein gene in 18 strains of Plasmodium falciparum. Mol Biochem Parasitol (1985) 1.70
Variation in the gene encoding a major merozoite surface antigen of the human malaria parasite Plasmodium falciparum. Nucleic Acids Res (1986) 1.69
Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Hum Mol Genet (1996) 1.69
Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. Arch Ophthalmol (2001) 1.68
Estimating human inbreeding coefficients: comparison of genealogical and marker heterozygosity approaches. Ann Hum Genet (2006) 1.68
Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Hum Mol Genet (2001) 1.67
Catechol-O-methyl transferase Val158Met gene polymorphism in schizophrenia: working memory, frontal lobe MRI morphology and frontal cerebral blood flow. Mol Psychiatry (2005) 1.61
A genetic screen for mutations that disrupt an auditory response in Drosophila melanogaster. Proc Natl Acad Sci U S A (1997) 1.59
Genomewide scan for prostate cancer-aggressiveness loci. Am J Hum Genet (2000) 1.57
Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron (1996) 1.55
Molecular genetics of age-related macular degeneration. Hum Mol Genet (2001) 1.55
Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum Mol Genet (1996) 1.54
Analysis of sequences from the extremely A + T-rich genome of Plasmodium falciparum. Gene (1987) 1.52
A genome screen of multiplex sibships with prostate cancer. Am J Hum Genet (2000) 1.51
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am J Hum Genet (2001) 1.50
Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43. Am J Hum Genet (1998) 1.50
Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. Nat Genet (1995) 1.50
Linkage of posterior polymorphous corneal dystrophy to 20q11. Hum Mol Genet (1995) 1.49
Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel. J Med Genet (2007) 1.48
Identification of the murine beige gene by YAC complementation and positional cloning. Nat Genet (1996) 1.46
Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. Am J Med Genet (1995) 1.43
Survey of plant short tandem DNA repeats. Theor Appl Genet (1994) 1.42
Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet (1992) 1.41
Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22. Am J Hum Genet (2000) 1.37
Expression of the receptor protein-tyrosine kinases Tyro-3, Axl, and mer in the developing rat central nervous system. J Comp Neurol (2000) 1.36
Construction and partial characterization of two recombinant cDNA clones for procollagen from chicken cartilage. Nucleic Acids Res (1982) 1.35
Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization. Genomics (1991) 1.35
Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues. Invest Ophthalmol Vis Sci (2001) 1.33
An evolutionarily conserved transmembrane protein that is a novel downstream target of neurotrophin and ephrin receptors. J Neurosci (2001) 1.33