Published in Genome Res on March 01, 1999
The transcription factor Sox10 is a key regulator of peripheral glial development. Genes Dev (2001) 4.40
Terminal differentiation of myelin-forming oligodendrocytes depends on the transcription factor Sox10. Genes Dev (2002) 2.98
Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet (2001) 2.32
Protein zero gene expression is regulated by the glial transcription factor Sox10. Mol Cell Biol (2000) 2.11
The glial transcription factor Sox10 binds to DNA both as monomer and dimer with different functional consequences. Nucleic Acids Res (2000) 1.91
Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome. Am J Hum Genet (2003) 1.88
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
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet (2007) 1.54
Sox10 promotes the formation and maintenance of giant congenital naevi and melanoma. Nat Cell Biol (2012) 1.48
Enteric neuron imbalance and proximal dysmotility in ganglionated intestine of the Sox10(Dom/+) Hirschsprung mouse model. Cell Mol Gastroenterol Hepatol (2015) 1.43
Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb. Proc Natl Acad Sci U S A (2003) 1.30
Idiopathic weight reduction in mice deficient in the high-mobility-group transcription factor Sox8. Mol Cell Biol (2001) 1.28
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. Am J Hum Genet (2000) 1.26
Genetic basis of Hirschsprung's disease. Pediatr Surg Int (2009) 1.25
A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy. Hum Mol Genet (2008) 1.16
The developmental etiology and pathogenesis of Hirschsprung disease. Transl Res (2013) 1.09
Comparison of melanoblast expression patterns identifies distinct classes of genes. Pigment Cell Melanoma Res (2009) 1.07
Genetic background impacts developmental potential of enteric neural crest-derived progenitors in the Sox10Dom model of Hirschsprung disease. Hum Mol Genet (2010) 1.06
Genetic interactions and modifier genes in Hirschsprung's disease. World J Gastroenterol (2011) 0.99
Developmental biology of the enteric nervous system: pathogenesis of Hirschsprung's disease and other congenital dysmotilities. Semin Pediatr Surg (2004) 0.98
Differential gene expression and functional analysis implicate novel mechanisms in enteric nervous system precursor migration and neuritogenesis. Dev Biol (2006) 0.96
Genetic background strongly modifies the severity of symptoms of Hirschsprung disease, but not hearing loss in rats carrying Ednrb(sl) mutations. PLoS One (2011) 0.94
Transcription factor Sox10 orchestrates activity of a neural crest-specific enhancer in the vicinity of its gene. Nucleic Acids Res (2011) 0.93
The MADS box transcription factor MEF2C regulates melanocyte development and is a direct transcriptional target and partner of SOX10. Development (2011) 0.92
Oligodendroglial and pan-neural crest expression of Cre recombinase directed by Sox10 enhancer. Genesis (2009) 0.89
Genetic evidence does not support direct regulation of EDNRB by SOX10 in migratory neural crest and the melanocyte lineage. Mech Dev (2006) 0.86
Cranial neural crest cell contribution to craniofacial formation, pathology, and future directions in tissue engineering. Birth Defects Res C Embryo Today (2014) 0.81
The genetic inheritance of the blue-eyed white phenotype in alpacas (Vicugna pacos). J Hered (2012) 0.80
QTL analysis identifies a modifier locus of aganglionosis in the rat model of Hirschsprung disease carrying Ednrb(sl) mutations. PLoS One (2011) 0.80
SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants. Gut (2001) 0.80
2013 William Allan Award: My multifactorial journey. Am J Hum Genet (2014) 0.78
Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease. Cell (2016) 0.77
A Sox10(rtTA/+) Mouse Line Allows for Inducible Gene Expression in the Auditory and Balance Organs of the Inner Ear. J Assoc Res Otolaryngol (2015) 0.75
Initial sequencing and analysis of the human genome. Nature (2001) 212.86
The transcriptional landscape of the mammalian genome. Science (2005) 37.63
Identification of the cystic fibrosis gene: genetic analysis. Science (1989) 33.61
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature (2002) 28.79
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
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science (1997) 6.66
High-throughput variation detection and genotyping using microarrays. Genome Res (2001) 5.24
Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene. Science (1997) 4.55
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet (1997) 4.43
Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map. Nat Genet (1994) 4.19
Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet (2007) 4.13
Characterization of the CHD family of proteins. Proc Natl Acad Sci U S A (1997) 3.76
Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nat Genet (1998) 3.51
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
Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet (1994) 2.83
Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays. Genome Res (2000) 2.79
cDNA microarrays detect activation of a myogenic transcription program by the PAX3-FKHR fusion oncogene. Proc Natl Acad Sci U S A (1999) 2.77
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
Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene. Proc Natl Acad Sci U S A (1999) 2.53
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
Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3. Hum Genet (2000) 2.34
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
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
MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability. Nat Genet (2000) 2.00
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat Genet (2000) 1.99
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet (2000) 1.84
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
To a future of genetic medicine. Nature (2001) 1.70
Melanocyte development in vivo and in neural crest cell cultures: crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor. Development (1997) 1.69
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
Purification and some properties of two boticins. J Bacteriol (1970) 1.55
Second-generation integrated genetic linkage/radiation hybrid maps of the domestic cat (Felis catus). J Hered (2003) 1.53
Help of the fire brigade in a case of a strangulated penis. Ann R Coll Surg Engl (2001) 1.51
Estimation of the marker gene frequency and linkage disequilibrium from conditional marker data. Am J Hum Genet (1984) 1.50
A genetic linkage map of 17 markers on human chromosome 21. Genomics (1989) 1.50
Molecular evolution of the homeodomain family of transcription factors. Nucleic Acids Res (2001) 1.48
Heritability of life span in the Old Order Amish. Am J Med Genet (2001) 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
A study of aluminum phosphide (AlP) poisoning with special reference to electrocardiographic changes. J Assoc Physicians India (1990) 1.43
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum Mol Genet (1995) 1.43
Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker. Genomics (1990) 1.43
Neural crest-directed gene transfer demonstrates Wnt1 role in melanocyte expansion and differentiation during mouse development. Proc Natl Acad Sci U S A (2000) 1.41
Patterns of meiotic recombination on the long arm of human chromosome 21. Genome Res (2000) 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
Analysis of the functional role of conserved residues in the protein subunit of ribonuclease P from Escherichia coli. J Mol Biol (1997) 1.35
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
Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1. Am J Hum Genet (2001) 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
Informatic selection of a neural crest-melanocyte cDNA set for microarray analysis. Proc Natl Acad Sci U S A (1999) 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
Generation of RCAS vectors useful for functional genomic analyses. DNA Res (2001) 1.23
The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells. Hum Mol Genet (1995) 1.23
Analysis of SOX10 function in neural crest-derived melanocyte development: SOX10-dependent transcriptional control of dopachrome tautomerase. Dev Biol (2001) 1.21
Multipoint gene mapping using seriation. II. Analysis of simulated and empirical data. Am J Hum Genet (1987) 1.21
Genetic epidemiology of rheumatoid arthritis. Am J Hum Genet (1995) 1.19
Yeast artificial chromosome modification and manipulation. Methods Enzymol (1992) 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
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
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
Praja1, a novel gene encoding a RING-H2 motif in mouse development. Oncogene (1997) 1.10
The end of the beginning: the race to begin human genome sequencing. Genome Res (1996) 1.10
Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat. Genomics (1990) 1.08