Published in Am J Hum Genet on May 01, 1987
A study of tumor progression: the precursor lesions of superficial spreading and nodular melanoma. Hum Pathol (1984) 3.21
Origin of familial malignant melanomas from heritable melanocytic lesions. 'The B-K mole syndrome'. Arch Dermatol (1978) 2.81
Acquired precursors of cutaneous malignant melanoma. The familial dysplastic nevus syndrome. N Engl J Med (1985) 2.54
Familial atypical multiple mole-melanoma syndrome. J Med Genet (1978) 1.88
Precursor lesions in familial melanoma. A new genetic preneoplastic syndrome. JAMA (1978) 1.74
Familial cutaneous malignant melanoma: autosomal dominant trait possibly linked to the Rh locus. Proc Natl Acad Sci U S A (1983) 1.72
High risk of malignant melanoma in melanoma-prone families with dysplastic nevi. Ann Intern Med (1985) 1.51
Cutaneous malignant melanoma and familial dysplastic nevi: evidence for autosomal dominance and pleiotropy. Am J Hum Genet (1986) 1.39
Precursor naevi in cutaneous malignant melanoma: a proposed nomenclature. Lancet (1980) 1.12
Dysplastic nevus in histologic contiguity with acquired nonfamilial melanoma. Clinicopathologic experience in a 100-bed hospital. Arch Dermatol (1987) 0.85
Lack of association between intraocular melanoma and cutaneous dysplastic nevi. Am J Ophthalmol (1984) 0.84
Identification of the cystic fibrosis gene: genetic analysis. Science (1989) 33.61
Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet (1999) 17.09
Comparative analyses of multi-species sequences from targeted genomic regions. Nature (2003) 13.31
New goals for the U.S. Human Genome Project: 1998-2003. Science (1998) 8.30
Nonuniform recombination within the human beta-globin gene cluster. Am J Hum Genet (1984) 7.97
DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell (1991) 7.93
A DNA polymorphism discovery resource for research on human genetic variation. Genome Res (1998) 7.44
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet (1997) 5.34
High-throughput variation detection and genotyping using microarrays. Genome Res (2001) 5.24
Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map. Nat Genet (1994) 4.19
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
Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet (2007) 4.13
Basic fallacies in the formulation of the paternity index. Am J Hum Genet (1985) 3.18
Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nat Genet (1998) 3.00
Evidence for increased recombination near the human insulin gene: implication for disease association studies. Proc Natl Acad Sci U S A (1986) 2.96
Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation: the Lyon repeat hypothesis. Proc Natl Acad Sci U S A (2000) 2.94
Estimating the prior probability of paternity from the results of exclusion tests. Forensic Sci Int (1984) 2.91
Similarity of DNA fingerprints due to chance and relatedness. Hum Hered (1993) 2.90
Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays. Genome Res (2000) 2.79
Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. Am J Hum Genet (1990) 2.77
Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster. Proc Natl Acad Sci U S A (1984) 2.47
Patterns of genetic variation in Mendelian and complex traits. Annu Rev Genomics Hum Genet (2000) 2.37
A genetic study of Hirschsprung disease. Am J Hum Genet (1990) 2.30
It's raining SNPs, hallelujah? Nat Genet (1998) 2.30
Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome. Science (1987) 2.27
Evidence for multiple origins of the beta E-globin gene in Southeast Asia. Proc Natl Acad Sci U S A (1982) 2.24
Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. Cell (1992) 2.15
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet (1993) 2.02
Familial clustering of rheumatoid arthritis with other autoimmune diseases. Hum Genet (1998) 1.99
Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet (1995) 1.97
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet (2001) 1.83
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet (1998) 1.82
Recombination within and between the human insulin and beta-globin gene loci. Proc Natl Acad Sci U S A (1983) 1.82
Polymorphic DNA haplotypes at the LDL receptor locus. Am J Hum Genet (1989) 1.82
Allele frequency distributions in pooled DNA samples: applications to mapping complex disease genes. Genome Res (1998) 1.81
Mean and variance of FST in a finite number of incompletely isolated populations. Theor Popul Biol (1977) 1.79
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet (1995) 1.78
Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nat Genet (1996) 1.77
A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci U S A (2000) 1.76
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet (1998) 1.75
To a future of genetic medicine. Nature (2001) 1.70
Parental origin and phenotype of triploidy in spontaneous abortions: predominance of diandry and association with the partial hydatidiform mole. Am J Hum Genet (2000) 1.69
Linkage disequilibrium analysis of biallelic DNA markers, human quantitative trait loci, and threshold-defined case and control subjects. Am J Hum Genet (2000) 1.65
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet (1996) 1.65
Multipoint gene mapping using seriation. I. General methods. Am J Hum Genet (1987) 1.61
Detection of tandem duplications and implications for linkage analysis. Am J Hum Genet (1994) 1.60
Microsatellite polymorphism linkage map of human chromosome 13q. Genomics (1993) 1.56
Elevated frequency of Tay-Sachs disease among Ashkenazic Jews unlikely by genetic drift alone. Am J Hum Genet (1978) 1.55
The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. Genome Res (1999) 1.53
Help of the fire brigade in a case of a strangulated penis. Ann R Coll Surg Engl (2001) 1.51
A genetic linkage map of 17 markers on human chromosome 21. Genomics (1989) 1.50
Estimation of the marker gene frequency and linkage disequilibrium from conditional marker data. Am J Hum Genet (1984) 1.50
A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell (1992) 1.46
The winged helix/forkhead transcription factor Foxq1 regulates differentiation of hair in satin mice. Genesis (2001) 1.44
A genetic linkage map of 27 markers on human chromosome 21. Genomics (1991) 1.43
Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker. Genomics (1990) 1.43
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum Mol Genet (1995) 1.43
Patterns of meiotic recombination on the long arm of human chromosome 21. Genome Res (2000) 1.40
Mutation rate estimate in hereditary cutaneous malignant melanoma/dysplastic nevi. Am J Med Genet (1990) 1.40
Cutaneous malignant melanoma and familial dysplastic nevi: evidence for autosomal dominance and pleiotropy. Am J Hum Genet (1986) 1.39
Guidelines for human linkage maps: an international system for human linkage maps (ISLM, 1990). Genomics (1991) 1.37
Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3. Am J Hum Genet (1996) 1.32
DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster. Hum Genet (1988) 1.32
Drift variances of FST and GST statistics obtained from a finite number of isolated populations. Theor Popul Biol (1977) 1.31
Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. Hum Mol Genet (1996) 1.27
A linkage map of human chromosome 21:43 PCR markers at average intervals of 2.5 cM. Genomics (1993) 1.26
Genetics and biology of human ovarian teratomas. I. Cytogenetic analysis and mechanism of origin. Am J Hum Genet (1990) 1.26
Guidelines for human linkage maps. An International System for Human Linkage Maps (ISLM, 1990). Ann Hum Genet (1991) 1.25
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. Am J Hum Genet (1999) 1.25
Genetics and biology of human ovarian teratomas. II. Molecular analysis of origin of nondisjunction and gene-centromere mapping of chromosome I markers. Am J Hum Genet (1990) 1.25
The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells. Hum Mol Genet (1995) 1.23
Evidence against Ha-ras-1 involvement in sporadic and familial melanoma. Nature (1987) 1.21
Loss of alleles from the distal short arm of chromosome 1 occurs late in melanoma tumor progression. Proc Natl Acad Sci U S A (1989) 1.21
A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism. Carcinogenesis (2000) 1.21
Multipoint gene mapping using seriation. II. Analysis of simulated and empirical data. Am J Hum Genet (1987) 1.21
Investigating the genetic basis for ankylosing spondylitis. Linkage studies with the major histocompatibility complex region. Arthritis Rheum (1994) 1.20
Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation. Exp Dermatol (2001) 1.20
Familial autoimmunity in pedigrees of idiopathic inflammatory myopathy patients suggests common genetic risk factors for many autoimmune diseases. Arthritis Rheum (1998) 1.20
Genetic epidemiology of rheumatoid arthritis. Am J Hum Genet (1995) 1.19
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet (1997) 1.18
Genetic linkage map of fishes of the genus Xiphophorus (Teleostei: Poeciliidae). Genetics (1991) 1.16
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. J Invest Dermatol (2001) 1.16
Utility and efficiency of linked marker genes for genetic counseling. II. Identification of linkage phase by offspring phenotypes. Am J Hum Genet (1982) 1.15
Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. Cancer Res (1996) 1.12
Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3. Genomics (1997) 1.12
A study of restriction fragment length polymorphisms at the human alpha-1-antitrypsin locus. Hum Genet (1985) 1.11
Availability of schizophrenic patients and their families for genetic linkage studies: findings from the Maryland epidemiology sample. Genet Epidemiol (1989) 1.10
The end of the beginning: the race to begin human genome sequencing. Genome Res (1996) 1.10
A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. J Invest Dermatol (1994) 1.09
Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat. Genomics (1990) 1.08
Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM. Mol Psychiatry (2011) 1.08
Further evidence for a locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) on chromosome 1p, and evidence for genetic heterogeneity. Am J Hum Genet (1993) 1.08
EDNRB/EDN3 and Hirschsprung disease type II. Pigment Cell Res (2001) 1.08
A strategy for using multiple linked markers for genetic counseling. Am J Hum Genet (1985) 1.08
Lack of association between a biallelic polymorphism in the adducin gene and blood pressure in whites and African Americans. Am J Hypertens (2000) 1.07
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet (2008) 1.06
DNA profile similarity in a subdivided population. Hum Hered (1994) 1.06
Pleiotropic skeletal and ocular phenotypes of the mouse mutation congenital hydrocephalus (ch/Mf1) arise from a winged helix/forkhead transcriptionfactor gene. Hum Mol Genet (1999) 1.06
Clinical heterogeneity in epidermolytic hyperkeratosis. Arch Dermatol (1994) 1.06