Published in Nature on June 30, 1983
Y chromosomal DNA variation and the peopling of Japan. Am J Hum Genet (1995) 4.50
A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet (1986) 3.03
The cell surface antigen locus, MIC2X, escapes X-inactivation. Am J Hum Genet (1984) 1.84
A DNA probe detecting multiple haplotypes of the human Y chromosome. Am J Hum Genet (1986) 1.77
Human genetic affinities for Y-chromosome P49a,f/TaqI haplotypes show strong correspondence with linguistics. Am J Hum Genet (1997) 1.58
Y chromosome probe p49a detects complex PvuII haplotypes and many new TaqI haplotypes in southern African populations. Am J Hum Genet (1992) 1.53
Molecular cloning and sequence analysis of a mouse Y chromosome RNA transcript expressed in the testis. Nucleic Acids Res (1987) 1.29
Moderately repeated DNA sequences specific for the short arm of the human Y chromosome are present in XX males and reduced in copy number in an XY female. Nucleic Acids Res (1986) 1.26
A new deletion of the mouse Y chromosome long arm associated with the loss of Ssty expression, abnormal sperm development and sterility. Genetics (2004) 1.26
Characterization and evolution of a single-copy sequence from the human Y chromosome. Mol Cell Biol (1985) 1.25
Extensive DNA sequence homologies between the human Y and the long arm of the X chromosome. EMBO J (1985) 1.23
Cosmid clones derived from both euchromatic and heterochromatic regions of the human Y chromosome. EMBO J (1984) 1.21
Cloning an expressed gene shared by the human sex chromosomes. Proc Natl Acad Sci U S A (1986) 1.20
Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes. Nucleic Acids Res (1987) 1.18
Mapping of the mouse X chromosome using random genomic probes and an interspecific mouse cross. EMBO J (1985) 1.17
Two highly polymorphic minisatellites from the pseudoautosomal region of the human sex chromosomes. EMBO J (1987) 1.15
Homologies between X and Y chromosomes detected by DNA probes: localisation and evolution. Nucleic Acids Res (1985) 1.13
The human Y chromosome. J Med Genet (1985) 1.12
Comparison of human ZFY and ZFX transcripts. Proc Natl Acad Sci U S A (1990) 1.11
Regional assignment of Y-linked DNA probes by deletion mapping and their homology with X-chromosome and autosomal sequences. Nucleic Acids Res (1986) 1.03
Isolation and characterization of a mouse Y chromosomal repetitive sequence. Genetics (1986) 0.99
Direct hybridization of sorted human chromosomes: localization of the Y chromosome on the flow karyotype. Proc Natl Acad Sci U S A (1983) 0.97
Localisation of Y chromosome sequences in normal and 'XX' males. J Med Genet (1987) 0.92
Isolation of a sequence which maps close to the human sex determining gene. Nucleic Acids Res (1987) 0.90
Actin-like sequences are present on human X and Y chromosomes. EMBO J (1984) 0.86
Hormonal and molecular genetic findings in 46,XX subjects with sexual ambiguity and testicular differentiation. Eur J Pediatr (1993) 0.81
Rapid and early determination of sex using trophoblast biopsy specimens and Y chromosome specific DNA probes. Br Med J (Clin Res Ed) (1984) 0.80
Initial sequencing and analysis of the human genome. Nature (2001) 212.86
The genome sequence of Drosophila melanogaster. Science (2000) 74.32
A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature (1996) 27.61
An STS-based map of the human genome. Science (1995) 17.72
The 1993-94 Généthon human genetic linkage map. Nat Genet (1994) 17.64
Estimate of human gene number provided by genome-wide analysis using Tetraodon nigroviridis DNA sequence. Nat Genet (2000) 14.51
A gene map of the human genome. Science (1996) 14.32
A physical map of 30,000 human genes. Science (1998) 12.43
A physical map of the human genome. Nature (2001) 12.39
The complete genome sequence of the lactic acid bacterium Lactococcus lactis ssp. lactis IL1403. Genome Res (2001) 8.63
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature (1996) 8.02
Genome sequence and gene compaction of the eukaryote parasite Encephalitozoon cuniculi. Nature (2001) 7.53
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature (1994) 7.30
Genome sequence of the plant pathogen Ralstonia solanacearum. Nature (2002) 6.23
Mapping of a susceptibility locus for Crohn's disease on chromosome 16. Nature (1996) 5.44
Mechanisms of evolution in Rickettsia conorii and R. prowazekii. Science (2001) 5.32
An interspersed repeated sequence specific for human subtelomeric regions. EMBO J (1990) 5.30
A protein tyrosine kinase in the interferon alpha/beta signaling pathway. Cell (1992) 4.96
A radiation hybrid map of the human genome. Hum Mol Genet (1996) 4.75
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet (1999) 4.74
Chromosome 5 allele loss in human colorectal carcinomas. Nature (1987) 4.46
Nursing home cost studies and reimbursement issues. Health Care Financ Rev (1980) 4.15
Most classical Mus musculus domesticus laboratory mouse strains carry a Mus musculus musculus Y chromosome. Nature (1985) 3.94
Preferential effect of gamma interferon on the synthesis of HLA antigens and their mRNAs in human cells. Nature (1982) 3.74
Interferon response sequence potentiates activity of an enhancer in the promoter region of a mouse H-2 gene. Nature (1986) 3.73
Genomic exploration of the hemiascomycetous yeasts: 1. A set of yeast species for molecular evolution studies. FEBS Lett (2000) 3.71
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet (1997) 3.68
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet (2001) 3.50
A first-generation physical map of the human genome. Nature (1993) 3.40
Genetic evidence equating SRY and the testis-determining factor. Nature (1990) 3.22
A method for constructing radiation hybrid maps of whole genomes. Nat Genet (1994) 3.19
New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study. Proc Natl Acad Sci U S A (1998) 3.14
Interferon-dependent induction of mRNA for the major histocompatibility antigens in human fibroblasts and lymphoblastoid cells. Proc Natl Acad Sci U S A (1982) 3.11
The complete genome sequence of Lactobacillus bulgaricus reveals extensive and ongoing reductive evolution. Proc Natl Acad Sci U S A (2006) 3.11
A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes. Nature (1986) 3.09
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet (1995) 3.05
A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet (1986) 3.03
A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group. Nat Genet (1996) 2.98
Two interferon mRNAs in human fibroblasts: in vitro translation and Escherichia coli cloning studies. Proc Natl Acad Sci U S A (1980) 2.88
A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance. Science (1985) 2.88
Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet (1994) 2.83
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet (1993) 2.79
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet (2001) 2.72
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet (1994) 2.71
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet (1997) 2.68
TNF stimulates expression of mouse MHC class I genes by inducing an NF kappa B-like enhancer binding activity which displaces constitutive factors. EMBO J (1989) 2.65
A view of the neolithic demic diffusion in Europe through two Y chromosome-specific markers. Am J Hum Genet (1996) 2.65
Human H-Y: a male-specific histocompatibility antigen derived from the SMCY protein. Science (1995) 2.55
Mutant WD-repeat protein in triple-A syndrome. Nat Genet (2000) 2.54
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet (1995) 2.52
Linkage and association of the glutamate receptor 6 gene with autism. Mol Psychiatry (2002) 2.51
[Primary structure of transfer RNA]. Biochimie (1972) 2.43
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet (2000) 2.40
Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet (1997) 2.38
Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33. Nat Genet (1996) 2.29
Population structure in the Mediterranean basin: a Y chromosome perspective. Ann Hum Genet (2006) 2.28
The beta2-microglobulin mRNA in human Daudi cells has a mutated initiation codon but is still inducible by interferon. EMBO J (1983) 2.28
A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet (1994) 2.22
Sequence and analysis of chromosome 3 of the plant Arabidopsis thaliana. Nature (2000) 2.17
Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes. Nature (1985) 2.14
Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas. Arch Dermatol (1996) 2.00
Anorectal malformations and Down syndrome. Am J Med Genet (1989) 1.97
Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome. Nature (1983) 1.94
A sex chromosome rearrangement in a human XX male caused by Alu-Alu recombination. Cell (1987) 1.93
GermOnline, a cross-species community knowledgebase on germ cell differentiation. Nucleic Acids Res (2004) 1.90
A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nat Genet (1994) 1.88
Nursing home levels of care: problems and alternatives. Health Care Financ Rev (1980) 1.87
True hermaphroditism: genetic variants and clinical management. J Pediatr (1994) 1.84
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. Hum Mol Genet (2001) 1.84
Identification of a mouse male-specific transplantation antigen, H-Y. Nature (1995) 1.82
Regulation of human gamma-interferon and beta-interferon gene expression in PHA-activated lymphocytes. J Interferon Res (1986) 1.81
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet (2005) 1.80
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet (1993) 1.79
Interferon-alpha-dependent activation of Tyk2 requires phosphorylation of positive regulatory tyrosines by another kinase. J Biol Chem (1996) 1.78
The HLA-A*0201-restricted H-Y antigen contains a posttranslationally modified cysteine that significantly affects T cell recognition. Immunity (1997) 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
A DNA probe detecting multiple haplotypes of the human Y chromosome. Am J Hum Genet (1986) 1.77
Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BPI) at 18q22-q23. Nat Genet (1996) 1.76
Human-ovine comparative sequencing of a 250-kb imprinted domain encompassing the callipyge (clpg) locus and identification of six imprinted transcripts: DLK1, DAT, GTL2, PEG11, antiPEG11, and MEG8. Genome Res (2001) 1.75
The protein encoded by a murine male germ cell-specific transcript is a putative ATP-dependent RNA helicase. Cell (1989) 1.75
Long-range restriction map of the terminal part of the short arm of the human X chromosome. Proc Natl Acad Sci U S A (1990) 1.75
Human XX males with Y single-copy DNA fragments. Nature (1984) 1.75
Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. Am J Hum Genet (2000) 1.73
Long-term T cell memory requires the surface expression of self-peptide/major histocompatibility complex molecules. Proc Natl Acad Sci U S A (1998) 1.71
Differential regulation of HLA-DR mRNAs and cell surface antigens by interferon. EMBO J (1983) 1.71
Genomic exploration of the hemiascomycetous yeasts: 18. Comparative analysis of chromosome maps and synteny with Saccharomyces cerevisiae. FEBS Lett (2000) 1.69
Report of the committee on the genetic constitution of the X and Y chromosomes. Cytogenet Cell Genet (1987) 1.68
Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians. Am J Hum Genet (1996) 1.68
A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum Mol Genet (1994) 1.67
Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families. Nat Genet (1994) 1.67
Enhanced expression of HLA antigens and beta 2-microglobulin on interferon-treated human lymphoid cells. Eur J Immunol (1979) 1.65
Molecular approach to thermogenesis in brown adipose tissue: cDNA cloning of the mitochondrial uncoupling protein. Proc Natl Acad Sci U S A (1985) 1.63
Complete cDNA-derived amino acid sequence of rat brown fat uncoupling protein. J Biol Chem (1986) 1.62
A 11.7-kb deletion triggers intersexuality and polledness in goats. Nat Genet (2001) 1.62