Published in Hum Mol Genet on December 05, 2005
Multiple conserved regulatory elements with overlapping functions determine Sox10 expression in mouse embryogenesis. Nucleic Acids Res (2007) 1.68
Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish. PLoS Genet (2008) 1.60
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet (2007) 1.54
Genomic code for Sox10 activation reveals a key regulatory enhancer for cranial neural crest. Proc Natl Acad Sci U S A (2010) 1.47
Sox proteins in melanocyte development and melanoma. Pigment Cell Melanoma Res (2010) 1.38
Integration of ChIP-seq and machine learning reveals enhancers and a predictive regulatory sequence vocabulary in melanocytes. Genome Res (2012) 1.35
An evolutionarily conserved intronic region controls the spatiotemporal expression of the transcription factor Sox10. BMC Dev Biol (2008) 1.31
The contribution of associated congenital anomalies in understanding Hirschsprung's disease. Pediatr Surg Int (2006) 1.22
Developmental programming mediated by complementary roles of imprinted Grb10 in mother and pup. PLoS Biol (2014) 1.05
SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer. BMC Dev Biol (2011) 1.03
Genome-wide analysis of EGR2/SOX10 binding in myelinating peripheral nerve. Nucleic Acids Res (2012) 1.03
Gpnmb is a melanoblast-expressed, MITF-dependent gene. Pigment Cell Melanoma Res (2008) 1.02
Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4. Eur J Hum Genet (2012) 0.93
Transcription factor Sox10 orchestrates activity of a neural crest-specific enhancer in the vicinity of its gene. Nucleic Acids Res (2011) 0.93
Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22. Hum Mol Genet (2011) 0.88
An iterative genetic and dynamical modelling approach identifies novel features of the gene regulatory network underlying melanocyte development. PLoS Genet (2011) 0.88
Networks and pathways in pigmentation, health, and disease. Wiley Interdiscip Rev Syst Biol Med (2010) 0.86
SOX10 regulates expression of the SH3-domain kinase binding protein 1 (Sh3kbp1) locus in Schwann cells via an alternative promoter. Mol Cell Neurosci (2011) 0.86
From remote enhancers to gene regulation: charting the genome's regulatory landscapes. Philos Trans R Soc Lond B Biol Sci (2013) 0.86
Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease. Pediatr Surg Int (2012) 0.85
Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon. Curr Biol (2014) 0.84
A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo. PLoS One (2010) 0.82
Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2. Hum Mol Genet (2014) 0.80
Clcn4-2 genomic structure differs between the X locus in Mus spretus and the autosomal locus in Mus musculus: AT motif enrichment on the X. Genome Res (2011) 0.79
Lineage-specific evolution of the vertebrate Otopetrin gene family revealed by comparative genomic analyses. BMC Evol Biol (2011) 0.79
Genomic analysis reveals distinct mechanisms and functional classes of SOX10-regulated genes in melanocytes. Hum Mol Genet (2015) 0.78
Regulation of SOX10 stability via ubiquitination-mediated degradation by Fbxw7α modulates melanoma cell migration. Oncotarget (2015) 0.77
Mouse models of Hirschsprung disease and other developmental disorders of the enteric nervous system: Old and new players. Dev Biol (2016) 0.77
Upregulation of the Nr2f1-A830082K12Rik gene pair in murine neural crest cells results in a complex phenotype reminiscent of Waardenburg syndrome type 4. Dis Model Mech (2016) 0.76
SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2. Hum Mol Genet (2016) 0.76
Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2. PLoS One (2012) 0.76
Stringent comparative sequence analysis reveals SOX10 as a putative inhibitor of glial cell differentiation. BMC Genomics (2016) 0.75
The transcription factors Ets1 and Sox10 interact during murine melanocyte development. Dev Biol (2015) 0.75
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
Aligning multiple genomic sequences with the threaded blockset aligner. Genome Res (2004) 24.52
Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40
LAGAN and Multi-LAGAN: efficient tools for large-scale multiple alignment of genomic DNA. Genome Res (2003) 23.03
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A (2002) 20.48
Distribution and intensity of constraint in mammalian genomic sequence. Genome Res (2005) 18.85
Topographical and temporal diversity of the human skin microbiome. Science (2009) 15.96
A vision for the future of genomics research. Nature (2003) 14.06
Prepublication data sharing. Nature (2009) 12.24
Identification and characterization of multi-species conserved sequences. Genome Res (2003) 10.18
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res (2004) 9.18
A high-resolution map of human evolutionary constraint using 29 mammals. Nature (2011) 8.67
Structure of P-glycoprotein reveals a molecular basis for poly-specific drug binding. Science (2009) 8.65
Focused evolution of HIV-1 neutralizing antibodies revealed by structures and deep sequencing. Science (2011) 7.92
A diversity profile of the human skin microbiota. Genome Res (2008) 7.65
Exome sequencing identifies GRIN2A as frequently mutated in melanoma. Nat Genet (2011) 7.31
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res (2007) 7.05
The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res (2009) 6.83
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res (2010) 5.76
Co-evolution of a broadly neutralizing HIV-1 antibody and founder virus. Nature (2013) 5.35
MultiPipMaker and supporting tools: Alignments and analysis of multiple genomic DNA sequences. Nucleic Acids Res (2003) 4.97
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature (2005) 4.92
Implementing genomic medicine in the clinic: the future is here. Genet Med (2013) 4.89
Initial sequence and comparative analysis of the cat genome. Genome Res (2007) 4.67
An intermediate grade of finished genomic sequence suitable for comparative analyses. Genome Res (2004) 4.38
An initial strategy for the systematic identification of functional elements in the human genome by low-redundancy comparative sequencing. Proc Natl Acad Sci U S A (2005) 4.38
The genome of the ctenophore Mnemiopsis leidyi and its implications for cell type evolution. Science (2013) 4.07
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat Genet (2008) 4.04
Developmental pathway for potent V1V2-directed HIV-neutralizing antibodies. Nature (2014) 3.73
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet (2003) 3.55
Quantitative estimates of sequence divergence for comparative analyses of mammalian genomes. Genome Res (2003) 3.52
Transcription-associated mutational asymmetry in mammalian evolution. Nat Genet (2003) 3.52
Identifying gene regulatory elements by genome-wide recovery of DNase hypersensitive sites. Proc Natl Acad Sci U S A (2004) 3.41
Defining functional DNA elements in the human genome. Proc Natl Acad Sci U S A (2014) 3.35
Research ethics. The complexities of genomic identifiability. Science (2013) 3.23
The DNA sequence of human chromosome 7. Nature (2003) 3.18
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants. Proc Natl Acad Sci U S A (2013) 2.93
Single-molecule sequencing to track plasmid diversity of hospital-associated carbapenemase-producing Enterobacteriaceae. Sci Transl Med (2014) 2.87
Systematic sequencing of cDNA clones using the transposon Tn5. Nucleic Acids Res (2002) 2.78
Melanoma mouse model implicates metabotropic glutamate signaling in melanocytic neoplasia. Nat Genet (2003) 2.67
Pathbase: a database of mutant mouse pathology. Nucleic Acids Res (2004) 2.66
Low incidence of DNA sequence variation in human induced pluripotent stem cells generated by nonintegrating plasmid expression. Cell Stem Cell (2012) 2.61
Maximizing versus satisficing: happiness is a matter of choice. J Pers Soc Psychol (2002) 2.56
Disruption of the imprinted Grb10 gene leads to disproportionate overgrowth by an Igf2-independent mechanism. Proc Natl Acad Sci U S A (2003) 2.48
VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer. Bioinformatics (2011) 2.47
In vivo time-lapse imaging shows dynamic oligodendrocyte progenitor behavior during zebrafish development. Nat Neurosci (2006) 2.42
Temporal Stability of the Human Skin Microbiome. Cell (2016) 2.41
Meiotic arrest and aneuploidy in MLH3-deficient mice. Nat Genet (2002) 2.39
Hedgehog signaling is required for cranial neural crest morphogenesis and chondrogenesis at the midline in the zebrafish skull. Development (2005) 2.36
Confirming the phylogeny of mammals by use of large comparative sequence data sets. Mol Biol Evol (2008) 2.33
The role of aminoacyl-tRNA synthetases in genetic diseases. Annu Rev Genomics Hum Genet (2008) 2.28
Biogeography and individuality shape function in the human skin metagenome. Nature (2014) 2.27
Frequent mutations in the MITF pathway in melanoma. Pigment Cell Melanoma Res (2009) 2.27
The completion of the Mammalian Gene Collection (MGC). Genome Res (2009) 2.21
Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci. Cell Metab (2010) 2.21
Long noncoding RNA genes: conservation of sequence and brain expression among diverse amniotes. Genome Biol (2010) 2.20
Parallel construction of orthologous sequence-ready clone contig maps in multiple species. Genome Res (2002) 2.18
Multidonor analysis reveals structural elements, genetic determinants, and maturation pathway for HIV-1 neutralization by VRC01-class antibodies. Immunity (2013) 2.17
Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins. Genomics (2002) 2.16
A direct role for Sox10 in specification of neural crest-derived sensory neurons. Development (2006) 2.15
Balancing selection maintains a form of ERAP2 that undergoes nonsense-mediated decay and affects antigen presentation. PLoS Genet (2010) 2.14
The exon junction complex component Magoh controls brain size by regulating neural stem cell division. Nat Neurosci (2010) 2.13
Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet (2010) 2.08
Analysis of primate genomic variation reveals a repeat-driven expansion of the human genome. Genome Res (2003) 2.07
Mutation of melanosome protein RAB38 in chocolate mice. Proc Natl Acad Sci U S A (2002) 2.02
Reconstructing large regions of an ancestral mammalian genome in silico. Genome Res (2004) 2.01
Regulatory divergence modifies limb length between mammals. Genes Dev (2008) 1.96
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet (2010) 1.96
Early history of mammals is elucidated with the ENCODE multiple species sequencing data. PLoS Genet (2007) 1.92
Comparative sequencing provides insights about the structure and conservation of marsupial and monotreme genomes. Proc Natl Acad Sci U S A (2005) 1.88
Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J Neurosci (2006) 1.87
Detecting false-positive signals in exome sequencing. Hum Mutat (2012) 1.87
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. J Invest Dermatol (2011) 1.82
Data use under the NIH GWAS data sharing policy and future directions. Nat Genet (2014) 1.82