Published in PLoS One on December 16, 2010
Differential Sox10 genomic occupancy in myelinating glia. Glia (2015) 0.90
Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22. Hum Mol Genet (2011) 0.88
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
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. BMC Med Genet (2015) 0.83
Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development. Hum Mol Genet (2016) 0.78
SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2. Hum Mol Genet (2016) 0.76
The human genome browser at UCSC. Genome Res (2002) 168.23
Stages of embryonic development of the zebrafish. Dev Dyn (1995) 42.72
Finishing the euchromatic sequence of the human genome. Nature (2004) 41.40
The ENCODE (ENCyclopedia Of DNA Elements) Project. Science (2004) 38.24
TRANSFAC: transcriptional regulation, from patterns to profiles. Nucleic Acids Res (2003) 29.26
Comparative analyses of multi-species sequences from targeted genomic regions. Nature (2003) 13.31
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet (1995) 5.83
Conservation of RET regulatory function from human to zebrafish without sequence similarity. Science (2006) 3.59
Evaluating the biological relevance of putative enhancers using Tol2 transposon-mediated transgenesis in zebrafish. Nat Protoc (2006) 3.57
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet (2004) 2.82
A G protein-coupled receptor is essential for Schwann cells to initiate myelination. Science (2009) 2.77
Zebrafish colourless encodes sox10 and specifies non-ectomesenchymal neural crest fates. Development (2001) 2.71
Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b. Genome Res (2007) 2.27
Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin. Neuron (1996) 2.25
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet (1998) 2.17
Isolation and analysis of the gene encoding peripheral myelin protein zero. Neuron (1988) 2.07
Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat Genet (1993) 2.07
The glial transcription factor Sox10 binds to DNA both as monomer and dimer with different functional consequences. Nucleic Acids Res (2000) 1.91
Lines of murine oligodendroglial precursor cells immortalized by an activated neu tyrosine kinase show distinct degrees of interaction with axons in vitro and in vivo. Eur J Neurosci (1995) 1.83
Characterization of myelination in the developing zebrafish. Glia (2002) 1.64
Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish. PLoS Genet (2008) 1.60
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron (1996) 1.58
Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10. Hum Mol Genet (2001) 1.37
Direct regulation of myelin protein zero expression by the Egr2 transactivator. J Biol Chem (2005) 1.36
Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. Nat Genet (1995) 1.33
Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg-Shah (WS4) syndrome. Hum Mol Genet (2005) 1.25
Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum Mol Genet (1999) 1.16
Parallel evolution and coexpression of the proteolipid proteins and protein zero in vertebrate myelin. Neuron (1996) 1.11
Neuropathy-associated Egr2 mutants disrupt cooperative activation of myelin protein zero by Egr2 and Sox10. Mol Cell Biol (2007) 1.10
Myelin sheaths: glycoproteins involved in their formation, maintenance and degeneration. Cell Mol Life Sci (2002) 1.05
Interactions of Sox10 and Egr2 in myelin gene regulation. Neuron Glia Biol (2007) 1.04
Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology (1996) 1.04
Biochemical and cellular properties of three immortalized Schwann cell lines expressing different levels of the myelin-associated glycoprotein. J Neurochem (1994) 1.04
Evolution of myelin proteolipid proteins: gene duplication in teleosts and expression pattern divergence. Mol Cell Neurosci (2005) 1.01
PipMaker: a World Wide Web server for genomic sequence alignments. Curr Protoc Bioinformatics (2003) 0.98
Induction of myelin protein zero by early growth response 2 through upstream and intragenic elements. J Biol Chem (2009) 0.97
Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients. Proc Natl Acad Sci U S A (1993) 0.96
A screen for mutations in zebrafish that affect myelin gene expression in Schwann cells and oligodendrocytes. Dev Biol (2006) 0.93
Multiple regulatory elements control transcription of the peripheral myelin protein zero gene. J Biol Chem (1997) 0.90
Myelin protein zero exists as dimers and tetramers in native membranes of Xenopus laevis peripheral nerve. J Neurosci Res (2002) 0.87
Tetrameric assembly of full-sequence protein zero myelin glycoprotein by synchrotron x-ray scattering. Biophys J (1999) 0.86
Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. Hum Mutat (1996) 0.82
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
The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81
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
Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med (2013) 15.85
A vision for the future of genomics research. Nature (2003) 14.06
Genome architecture, rearrangements and genomic disorders. Trends Genet (2002) 12.26
Prepublication data sharing. Nature (2009) 12.24
Identification and characterization of multi-species conserved sequences. Genome Res (2003) 10.18
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell (2007) 9.81
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res (2004) 9.18
Mechanisms of change in gene copy number. Nat Rev Genet (2009) 9.01
A high-resolution map of human evolutionary constraint using 29 mammals. Nature (2011) 8.67
Focused evolution of HIV-1 neutralizing antibodies revealed by structures and deep sequencing. Science (2011) 7.92
Structural variation in the human genome and its role in disease. Annu Rev Med (2010) 7.85
A diversity profile of the human skin microbiota. Genome Res (2008) 7.65
Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet (2009) 7.64
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
A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet (2009) 6.39
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
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet (2008) 4.87
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet (2005) 4.76
Initial sequence and comparative analysis of the cat genome. Genome Res (2007) 4.67
Mechanisms for human genomic rearrangements. Pathogenetics (2008) 4.54
Whole-genome sequencing for optimized patient management. Sci Transl Med (2011) 4.51
Molecular mechanisms for genomic disorders. Annu Rev Genomics Hum Genet (2002) 4.51
Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet (2004) 4.47
Completing the map of human genetic variation. Nature (2007) 4.38
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
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med (2014) 4.00
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature (2007) 3.91
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet (2009) 3.81
Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet (2006) 3.80
Human genome sequencing in health and disease. Annu Rev Med (2012) 3.76
Developmental pathway for potent V1V2-directed HIV-neutralizing antibodies. Nature (2014) 3.73
Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron (2006) 3.65
Conservation of RET regulatory function from human to zebrafish without sequence similarity. Science (2006) 3.59
Evaluating the biological relevance of putative enhancers using Tol2 transposon-mediated transgenesis in zebrafish. Nat Protoc (2006) 3.57
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
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One (2007) 3.53
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
Microbial DNA typing by automated repetitive-sequence-based PCR. J Clin Microbiol (2005) 3.44
Identifying gene regulatory elements by genome-wide recovery of DNase hypersensitive sites. Proc Natl Acad Sci U S A (2004) 3.41
Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med (2005) 3.39
Defining functional DNA elements in the human genome. Proc Natl Acad Sci U S A (2014) 3.35
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet (2009) 3.33
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet (2007) 3.26
Research ethics. The complexities of genomic identifiability. Science (2013) 3.23
The DNA sequence of human chromosome 7. Nature (2003) 3.18
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A (2012) 3.12
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell (2011) 3.03
Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1. Nature (2005) 2.98
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
Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat (2010) 2.93
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet (2002) 2.91
Single-molecule sequencing to track plasmid diversity of hospital-associated carbapenemase-producing Enterobacteriaceae. Sci Transl Med (2014) 2.87
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet (2004) 2.84
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet (2004) 2.82
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med (2006) 2.78
Systematic sequencing of cDNA clones using the transposon Tn5. Nucleic Acids Res (2002) 2.78
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain (2006) 2.77
Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet (2002) 2.74
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet (2008) 2.71