Published in Am J Hum Genet on July 01, 1999
Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet (2004) 8.85
Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet (2005) 1.87
Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomas. Am J Hum Genet (2004) 1.51
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet (2002) 1.45
Wide-scale analysis of human functional transcription factor binding reveals a strong bias towards the transcription start site. PLoS One (2007) 1.40
Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. PLoS One (2011) 1.32
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. J Med Genet (2007) 1.27
PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse. Hum Genet (2003) 1.23
Positional distribution of human transcription factor binding sites. Nucleic Acids Res (2008) 1.19
Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study. Eur J Hum Genet (2009) 1.13
Sox9 function in craniofacial development and disease. Genesis (2011) 1.07
Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia. Am J Hum Genet (2005) 1.05
The regulation of Sox9 gene expression by the GATA4/FOG2 transcriptional complex in dominant XX sex reversal mouse models. Dev Biol (2007) 0.99
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion. Hum Genet (2005) 0.96
Retroviral enhancer detection insertions in zebrafish combined with comparative genomics reveal genomic regulatory blocks - a fundamental feature of vertebrate genomes. Genome Biol (2007) 0.94
Microarray analysis of the Df1 mouse model of the 22q11 deletion syndrome. Hum Genet (2005) 0.94
A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. Hum Genet (2007) 0.91
Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences. Hum Genet (2014) 0.91
Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart. Eur J Hum Genet (2009) 0.88
A complex interaction of imprinted and maternal-effect genes modifies sex determination in Odd Sex (Ods) mice. Genetics (2004) 0.86
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. BMC Med Genet (2013) 0.85
Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter. Chromosome Res (2013) 0.85
The SOX9 upstream region prone to chromosomal aberrations causing campomelic dysplasia contains multiple cartilage enhancers. Nucleic Acids Res (2015) 0.83
Regulation of male sex determination: genital ridge formation and Sry activation in mice. Cell Mol Life Sci (2014) 0.83
Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes. Blood (2008) 0.82
Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment. Am J Med Genet A (2009) 0.81
Genetic variation in the odorant receptors family 13 and the mhc loci influence mate selection in a multiple sclerosis dataset. BMC Genomics (2010) 0.80
Enhancer chip: detecting human copy number variations in regulatory elements. PLoS One (2012) 0.80
Paternally derived translocation t(8;18)(q22.1;q22)pat associated in a patient with developmental delay: Case report and review. J Pediatr Neurosci (2010) 0.79
SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements. Nucleus (2017) 0.79
Clinical Utility Gene Card for: campomelic dysplasia. Eur J Hum Genet (2012) 0.78
A vast genomic deletion in the C56BL/6 genome affects different genes within the Ifi200 cluster on chromosome 1 and mediates obesity and insulin resistance. BMC Genomics (2017) 0.77
Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene. Mol Cell Endocrinol (2014) 0.77
Controlled somatic and germline copy number variation in the mouse model. Curr Genomics (2010) 0.76
Enhancer deregulation in cancer and other diseases. Bioessays (2016) 0.76
Regulation of sex determination in mice by a non-coding genomic region. Genetics (2014) 0.76
Mesoderm-specific Stat3 deletion affects expression of Sox9 yielding Sox9-dependent phenotypes. PLoS Genet (2017) 0.75
Donor Preference Meets Heterochromatin: Moonlighting Activities of a Recombinational Enhancer in Saccharomyces cerevisiae. Genetics (2016) 0.75
Basic local alignment search tool. J Mol Biol (1990) 659.07
Prediction of complete gene structures in human genomic DNA. J Mol Biol (1997) 58.76
A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature (1990) 10.97
The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. Cell (1992) 8.05
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell (1994) 7.39
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature (1994) 7.30
High throughput fingerprint analysis of large-insert clones. Genome Res (1997) 6.91
SOX9 is a potent activator of the chondrocyte-specific enhancer of the pro alpha1(II) collagen gene. Mol Cell Biol (1997) 5.72
HMG domain proteins: architectural elements in the assembly of nucleoprotein structures. Trends Genet (1994) 5.43
SOX9 directly regulates the type-II collagen gene. Nat Genet (1997) 4.88
SOX9 binds DNA, activates transcription, and coexpresses with type II collagen during chondrogenesis in the mouse. Dev Biol (1997) 3.84
The Sry-related gene Sox9 is expressed during chondrogenesis in mouse embryos. Nat Genet (1995) 3.45
Sox9 expression during gonadal development implies a conserved role for the gene in testis differentiation in mammals and birds. Nat Genet (1996) 3.11
The human genome: organization and evolutionary history. Annu Rev Genet (1995) 3.11
A male-specific role for SOX9 in vertebrate sex determination. Development (1996) 2.98
Sox genes find their feet. Curr Opin Genet Dev (1997) 2.82
The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971. Am J Med Genet (1983) 2.53
Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene. Mol Cell Biol (1998) 2.44
A clinical and genetic study of campomelic dysplasia. J Med Genet (1995) 2.20
Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. Hum Mol Genet (1995) 1.86
Sex reversal by loss of the C-terminal transactivation domain of human SOX9. Nat Genet (1996) 1.76
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Hum Mol Genet (1996) 1.67
Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. Am J Hum Genet (1995) 1.67
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. Hum Mol Genet (1997) 1.60
Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia. Proc Natl Acad Sci U S A (1998) 1.51
Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification. Genomics (1992) 1.43
Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9. Hum Genet (1996) 1.43
Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1. Nat Genet (1993) 1.33
Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome. Am J Hum Genet (1996) 1.31
Good genes in bad neighbourhoods. Nat Genet (1996) 1.28
A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis. Clin Genet (1991) 1.23
The alkali light chains of human smooth and nonmuscle myosins are encoded by a single gene. Tissue-specific expression by alternative splicing pathways. J Biol Chem (1989) 1.12
Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation. J Med Genet (1992) 1.11
Isolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal. Hum Mol Genet (1996) 1.03
A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal. Hum Mol Genet (1996) 1.00
YAC/P1 contigs defining the location of 56 microsatellite markers and several genes across a 3.4-cM interval on mouse chromosome 11. Mamm Genome (1995) 0.97
Exon amplification from complete libraries of genomic DNA using a novel phage vector with automatic plasmid excision facility: application to the mouse neurofibromatosis-1 locus. Oncogene (1994) 0.91
Mutation analysis of the SOX9 gene in a patient with campomelic dysplasia. Hum Mutat (1998) 0.83
Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation. Am J Med Genet (1995) 0.82
Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization. Hum Mutat (1998) 0.80
A somatic cell hybrid panel for distal 17q: GDIA1 maps to 17q25.3. Cytogenet Cell Genet (1997) 0.80
Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype. J Med Genet (1998) 0.79
ANT3 and STS are autosomal in prosimian lemurs: implications for the evolution of the pseudoautosomal region. Hum Genet (1995) 0.79
Initial sequencing and analysis of the human genome. Nature (2001) 212.86
Molecular classification of cancer: class discovery and class prediction by gene expression monitoring. Science (1999) 83.27
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature (2001) 42.18
Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet (1996) 39.80
Interpreting patterns of gene expression with self-organizing maps: methods and application to hematopoietic differentiation. Proc Natl Acad Sci U S A (1999) 39.79
Construction of multilocus genetic linkage maps in humans. Proc Natl Acad Sci U S A (1987) 35.83
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature (2002) 28.79
Classification of human lung carcinomas by mRNA expression profiling reveals distinct adenocarcinoma subclasses. Proc Natl Acad Sci U S A (2001) 24.34
Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet (1999) 24.24
Dissecting the regulatory circuitry of a eukaryotic genome. Cell (1998) 23.62
Resolution of quantitative traits into Mendelian factors by using a complete linkage map of restriction fragment length polymorphisms. Nature (1988) 23.48
High-resolution haplotype structure in the human genome. Nat Genet (2001) 20.51
Multiclass cancer diagnosis using tumor gene expression signatures. Proc Natl Acad Sci U S A (2001) 19.30
An SNP map of the human genome generated by reduced representation shotgun sequencing. Nature (2000) 19.19
Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science (1998) 18.23
An STS-based map of the human genome. Science (1995) 17.72
Mendelian factors underlying quantitative traits in tomato: comparison across species, generations, and environments. Genetics (1991) 17.40
Linkage disequilibrium in the human genome. Nature (2001) 17.24
On the allelic spectrum of human disease. Trends Genet (2001) 16.26
The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet (2000) 15.19
A gene map of the human genome. Science (1996) 14.32
Restriction fragment length polymorphism linkage map for Arabidopsis thaliana. Proc Natl Acad Sci U S A (1988) 13.85
Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector. Proc Natl Acad Sci U S A (1992) 13.77
Identification of genetic factors contributing to heterosis in a hybrid from two elite maize inbred lines using molecular markers. Genetics (1992) 13.63
A genetic linkage map of the human genome. Cell (1987) 13.37
Complete multipoint sib-pair analysis of qualitative and quantitative traits. Am J Hum Genet (1995) 12.78
Positive natural selection in the human lineage. Science (2006) 12.55
A physical map of 30,000 human genes. Science (1998) 12.43
Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science (1987) 12.20
Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Nat Genet (2001) 11.12
Genomic analysis of metastasis reveals an essential role for RhoC. Nature (2000) 10.11
Systematic detection of errors in genetic linkage data. Genomics (1992) 10.06
Genetic mapping of a gene causing hypertension in the stroke-prone spontaneously hypertensive rat. Cell (1991) 9.99
Ploidy regulation of gene expression. Science (1999) 9.98
Recognition of related proteins by iterative template refinement (ITR). Protein Sci (1994) 9.67
Remodeling of yeast genome expression in response to environmental changes. Mol Biol Cell (2001) 9.63
Strategies for studying heterogeneous genetic traits in humans by using a linkage map of restriction fragment length polymorphisms. Proc Natl Acad Sci U S A (1986) 9.51
A genetic map of the mouse suitable for typing intraspecific crosses. Genetics (1992) 8.53
Human and mouse gene structure: comparative analysis and application to exon prediction. Genome Res (2000) 8.28
Mapping complex genetic traits in humans: new methods using a complete RFLP linkage map. Cold Spring Harb Symp Quant Biol (1986) 8.22
Genomics. Genome project standards in a new era of sequencing. Science (2009) 7.72
Chemosensitivity prediction by transcriptional profiling. Proc Natl Acad Sci U S A (2001) 7.51
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell (1994) 7.39
Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet (1995) 6.51
Expression analysis with oligonucleotide microarrays reveals that MYC regulates genes involved in growth, cell cycle, signaling, and adhesion. Proc Natl Acad Sci U S A (2000) 6.30
The plasticity of dendritic cell responses to pathogens and their components. Science (2001) 5.58
Research on DNA typing catching up with courtroom application. Am J Hum Genet (1991) 5.28
Diverse signaling pathways activated by growth factor receptors induce broadly overlapping, rather than independent, sets of genes. Cell (1999) 4.97
Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arrays. Nat Genet (1999) 4.79
Chromosomal landscape of nucleosome-dependent gene expression and silencing in yeast. Nature (1999) 4.71
Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse. Cell (1993) 4.66
Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse. Nat Genet (2000) 4.66
A nonparametric approach for mapping quantitative trait loci. Genetics (1995) 4.49
Genome sequence, comparative analysis, and population genetics of the domestic horse. Science (2009) 4.41
Nucleotide sequence of cro, cII and part of the O gene in phage lambda DNA. Nature (1978) 4.12
Loss-of-heterozygosity analysis of small-cell lung carcinomas using single-nucleotide polymorphism arrays. Nat Biotechnol (2000) 4.10
Stable propagation of cosmid sized human DNA inserts in an F factor based vector. Nucleic Acids Res (1992) 3.97
Analysing complex genetic traits with chromosome substitution strains. Nat Genet (2000) 3.92
Genetic analysis of the fungus, Bremia lactucae, using restriction fragment length polymorphisms. Genetics (1988) 3.92
Faster multipoint linkage analysis using Fourier transforms. J Comput Biol (1998) 3.87
Family-based association study of 76 candidate genes in bipolar disorder: BDNF is a potential risk locus. Brain-derived neutrophic factor. Mol Psychiatry (2002) 3.78
Distinct physiological states of Plasmodium falciparum in malaria-infected patients. Nature (2007) 3.69
Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci. Am J Hum Genet (2000) 3.52
B104, a new dispersed repeated gene family in Drosophila melanogaster and its analogies with retroviruses. J Mol Biol (1982) 3.31
ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet (2000) 3.17
Secretory phospholipase Pla2g2a confers resistance to intestinal tumorigenesis. Nat Genet (1997) 2.91
High-resolution genetic mapping of complex traits. Am J Hum Genet (1995) 2.89
Transformation of Escherichia coli with large DNA molecules by electroporation. Nucleic Acids Res (1995) 2.88
Isolation of cloned genes differentially expressed at early and late stages of Drosophila embryonic development. Dev Biol (1981) 2.87
Disruption of the nuclear hormone receptor RORalpha in staggerer mice. Nature (1996) 2.58
Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma. Hum Mol Genet (1998) 2.57
Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height. Am J Hum Genet (2001) 2.50
Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families. Nat Genet (1996) 2.48
DNA base sequence of the po promoter region of phage lamdba. Nature (1977) 2.48
A complete BAC-based physical map of the Arabidopsis thaliana genome. Nat Genet (1999) 2.47
Prediction of level of serotonin 2A receptor binding by serotonin receptor 2A genetic variation in postmortem brain samples from subjects who did or did not commit suicide. Am J Psychiatry (1999) 2.45
Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene. Mol Cell Biol (1998) 2.44
Nucleotide sequence of the O gene and of the origin of replication in bacteriophage lambda DNA. Nucleic Acids Res (1978) 2.41
Recent gene conversion involving bovine vasopressin and oxytocin precursor genes suggested by nucleotide sequence. Nature (1984) 2.34
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet (2000) 2.28
Side-chain effects on peptidyl-prolyl cis/trans isomerisation. J Mol Biol (1998) 2.21
A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature (1990) 2.20
Functional analysis of the replicator structure of lambdoid bacteriophage DNAs. Cold Spring Harb Symp Quant Biol (1979) 2.18
Isolation and characterization of the human tyrosine aminotransferase gene. Nucleic Acids Res (1990) 2.15
A radiation hybrid map of mouse genes. Nat Genet (2001) 2.03
Effects of medical research on health care and economy. Science (1999) 1.99
Genetic analysis of non-insulin dependent diabetes mellitus in the GK rat. Nat Genet (1996) 1.96
The mouse pudgy mutation disrupts Delta homologue Dll3 and initiation of early somite boundaries. Nat Genet (1998) 1.96
Two loci on chromosomes 2 and X for premature coronary heart disease identified in early- and late-settlement populations of Finland. Am J Hum Genet (2000) 1.93
A genetic linkage map of 27 loci from PND to FY on the short arm of human chromosome I. Am J Hum Genet (1988) 1.92
An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nat Genet (1999) 1.91
Kif1C, a kinesin-like motor protein, mediates mouse macrophage resistance to anthrax lethal factor. Curr Biol (2001) 1.90
Effectors of a developmental mitogen-activated protein kinase cascade revealed by expression signatures of signaling mutants. Proc Natl Acad Sci U S A (1999) 1.88
Genetic dissection of autoimmune type I diabetes in the BB rat. Nat Genet (1992) 1.87
Sequence and comparative analysis of the mouse 1-megabase region orthologous to the human 11p15 imprinted domain. Genome Res (2000) 1.85