Published in Genomics on December 01, 1991
Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1. Am J Hum Genet (1993) 1.07
Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers. J Med Genet (1993) 0.90
Of mice and men: heritable skeletal disorders. Am J Hum Genet (1994) 0.79
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet (1992) 15.62
Clues to the pathogenesis of familial colorectal cancer. Science (1993) 14.52
HAPLO: a program using the EM algorithm to estimate the frequencies of multi-site haplotypes. J Hered (1995) 13.52
A genetic linkage map of the human genome. Cell (1987) 13.37
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature (1998) 10.35
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell (1993) 9.93
Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med (1998) 8.47
Drift, admixture, and selection in human evolution: a study with DNA polymorphisms. Proc Natl Acad Sci U S A (1991) 8.14
Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science (1998) 7.08
Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer (1999) 6.73
Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell (1993) 6.61
Report of the Committee on Methods of Linkage Analysis and Reporting. Cytogenet Cell Genet (1985) 5.61
Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms. Cytogenet Cell Genet (1989) 5.48
An interspersed repeated sequence specific for human subtelomeric regions. EMBO J (1990) 5.30
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell (1994) 5.21
Allelic loss of chromosome 18q and prognosis in colorectal cancer. N Engl J Med (1994) 5.12
Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med (1996) 4.87
Bipolar affective disorders linked to DNA markers on chromosome 11. Nature (1987) 4.64
Insertional polymorphisms of full-length endogenous retroviruses in humans. Curr Biol (2001) 4.53
The sex-determining region of the human Y chromosome encodes a finger protein. Cell (1987) 4.43
Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat Genet (1997) 4.27
Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old Order Amish. Nature (1989) 4.18
Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet (1999) 4.16
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Genetic mapping of a locus predisposing to human colorectal cancer. Science (1993) 4.12
The accuracy of statistical methods for estimation of haplotype frequencies: an example from the CD4 locus. Am J Hum Genet (2000) 4.07
Study of 47 DNA markers in five populations from four continents. Gene Geogr (1987) 4.04
The abdominal region of the bithorax complex. Cell (1985) 4.02
Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat Genet (1995) 4.01
Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol (2000) 3.98
Molecular haplotyping of genetic markers 10 kb apart by allele-specific long-range PCR. Nucleic Acids Res (1996) 3.92
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet (1996) 3.90
Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology (1995) 3.45
Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci U S A (2001) 3.31
Conversion of diploidy to haploidy. Nature (2000) 3.28
Haplotype of multiple polymorphisms resolved by enzymatic amplification of single DNA molecules. Proc Natl Acad Sci U S A (1990) 3.11
A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet (1981) 3.04
A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet (1986) 3.03
Linkage disequilibrium at the ADH2 and ADH3 loci and risk of alcoholism. Am J Hum Genet (1999) 3.03
Genes and languages in Europe: an analysis of mitochondrial lineages. Genome Res (1995) 2.93
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell (1995) 2.89
Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med (1990) 2.86
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell (2001) 2.86
Diagnosis of twin zygosity by mailed questionnaire. Hum Hered (1978) 2.85
abdA expression in Drosophila embryos. Genes Dev (1990) 2.79
Biphasic amplification of very dilute DNA samples via 'booster' PCR. Nucleic Acids Res (1989) 2.74
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) Science (1996) 2.73
Loss-of-function mutations in PPAR gamma associated with human colon cancer. Mol Cell (1999) 2.71
Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet (1996) 2.70
Many human endogenous retrovirus K (HERV-K) proviruses are unique to humans. Curr Biol (1999) 2.55
Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage. Nature (1987) 2.54
Phylogenetic analysis: concepts and methods. Am J Hum Genet (1971) 2.50
Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet (1993) 2.46
Transmission/disequilibrium tests using multiple tightly linked markers. Am J Hum Genet (2000) 2.45
Comparisons of two methods for haplotype reconstruction and haplotype frequency estimation from population data. Am J Hum Genet (2001) 2.44
Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations. Am J Hum Genet (2000) 2.43
Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet (1995) 2.43
Pericentric inversions of human chromosomes 9 and 10. Am J Hum Genet (1974) 2.40
hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res (1994) 2.39
Gene expression in papillary thyroid carcinoma reveals highly consistent profiles. Proc Natl Acad Sci U S A (2001) 2.38
The utility of DNA typing in forensic work. Science (1991) 2.34
Coupled amplification and sequencing of genomic DNA. Proc Natl Acad Sci U S A (1991) 2.33
Rearrangement of ALL1 (MLL) in acute myeloid leukemia with normal cytogenetics. Cancer Res (1998) 2.33
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet (1995) 2.30
Short tandem repeat polymorphism evolution in humans. Eur J Hum Genet (1998) 2.30
Identification of a novel common genetic risk factor for lumbar disk disease. JAMA (2001) 2.28
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A (1999) 2.27
Report of the committee on human gene mapping by recombinant DNA techniques. Cytogenet Cell Genet (1987) 2.24
A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations. Am J Hum Genet (1998) 2.23
The genetic architecture of selection at the human dopamine receptor D4 (DRD4) gene locus. Am J Hum Genet (2004) 2.21
Parallelizing genetic linkage analysis: a case study for applying parallel computation in molecular biology. Comput Biomed Res (1991) 2.21
Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes. Nature (1985) 2.14
The world-wide distribution of allele frequencies at the human dopamine D4 receptor locus. Hum Genet (1996) 2.13
Global variation in the frequencies of functionally different catechol-O-methyltransferase alleles. Biol Psychiatry (1999) 2.11
Studies of three Amerindian populations using nuclear DNA polymorphisms. Hum Biol (1991) 2.09
A hypervariable segment in the human dopamine receptor D4 (DRD4) gene. Hum Mol Genet (1993) 2.09
Deletions and single base pair changes in the yeast mating type locus that prevent homothallic mating type conversions. Proc Natl Acad Sci U S A (1983) 2.09
Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer. Nat Genet (1994) 2.08
Sequence variability and candidate gene analysis in complex disease: association of mu opioid receptor gene variation with substance dependence. Hum Mol Genet (2000) 2.05
Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers. Am J Pathol (2000) 2.03
Study of an additional 58 DNA markers in five human populations from four continents. Gene Geogr (1991) 1.98
Mutations predisposing to hereditary nonpolyposis colorectal cancer. Adv Cancer Res (1997) 1.98
Evidence against linkage of schizophrenia to markers on chromosome 5 in a northern Swedish pedigree. Nature (1988) 1.96
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. Nat Genet (1999) 1.96
Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3). Proc Natl Acad Sci U S A (2001) 1.94
Age-related hypermethylation of the 5' region of MLH1 in normal colonic mucosa is associated with microsatellite-unstable colorectal cancer development. Cancer Res (2001) 1.93
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet (1999) 1.88
Short tandem-repeat polymorphism/alu haplotype variation at the PLAT locus: implications for modern human origins. Am J Hum Genet (2000) 1.85
Minisatellite diversity supports a recent African origin for modern humans. Nat Genet (1996) 1.84
MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis. Genes Chromosomes Cancer (1997) 1.83
Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor. Hum Genet (1983) 1.83
The etiology of maleness in XX men. Hum Genet (1981) 1.82
Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population. Hum Mol Genet (1997) 1.82