Published in Nat Genet on February 22, 2009
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. PLoS Genet (2010) 2.14
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Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. Nat Genet (2009) 1.75
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Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. J Med Genet (2009) 1.36
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Massively parallel decoding of mammalian regulatory sequences supports a flexible organizational model. Nat Genet (2013) 1.30
Wwp2 is essential for palatogenesis mediated by the interaction between Sox9 and mediator subunit 25. Nat Commun (2011) 1.27
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Enhancer elements upstream of the SHOX gene are active in the developing limb. Eur J Hum Genet (2009) 1.17
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Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin. PLoS Genet (2009) 1.16
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A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E. Hum Mol Genet (2009) 1.13
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Sox9 function in craniofacial development and disease. Genesis (2011) 1.07
A novel distal enhancer mediates cytokine induction of mouse RANKl gene expression. Mol Endocrinol (2009) 1.05
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A far-upstream (-70 kb) enhancer mediates Sox9 auto-regulation in somatic tissues during development and adult regeneration. Nucleic Acids Res (2013) 1.03
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Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. Am J Hum Genet (2013) 0.99
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Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence. Hum Mol Genet (2013) 0.94
A systematic enhancer screen using lentivector transgenesis identifies conserved and non-conserved functional elements at the Olig1 and Olig2 locus. PLoS One (2010) 0.93
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish. Am J Hum Genet (2011) 0.92
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Mice with Tak1 deficiency in neural crest lineage exhibit cleft palate associated with abnormal tongue development. J Biol Chem (2013) 0.90
Genetics and management of the patient with orofacial cleft. Plast Surg Int (2012) 0.89
A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk. BMC Genet (2014) 0.88
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Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences. PLoS One (2011) 0.88
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16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance. Mol Cytogenet (2014) 0.86
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TRACER: a resource to study the regulatory architecture of the mouse genome. BMC Genomics (2013) 0.85
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
Leukaemia cell of origin identified by chromatin landscape of bulk tumour cells. Nat Commun (2016) 0.85
DNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q35.2. Nucleic Acids Res (2009) 0.85
Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter. Chromosome Res (2013) 0.85
Role of SOX9 in the Etiology of Pierre-Robin Syndrome. Iran J Basic Med Sci (2013) 0.84
Neural crest cell-derived VEGF promotes embryonic jaw extension. Proc Natl Acad Sci U S A (2015) 0.84
The SOX9 upstream region prone to chromosomal aberrations causing campomelic dysplasia contains multiple cartilage enhancers. Nucleic Acids Res (2015) 0.83
A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence. PLoS Genet (2014) 0.83
Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection. Nucleic Acids Res (2014) 0.81
Surgical management of a large cleft palate in a Pierre Robin sequence: A case report and review of literature. J Pharm Bioallied Sci (2015) 0.80
Regulation of disease-associated gene expression in the 3D genome. Nat Rev Mol Cell Biol (2016) 0.80
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Clinical Utility Gene Card for: campomelic dysplasia. Eur J Hum Genet (2012) 0.78
Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer's disease. Transl Psychiatry (2012) 0.78
SOX9 and the many facets of its regulation in the chondrocyte lineage. Connect Tissue Res (2016) 0.78
Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome. Nat Commun (2015) 0.78
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3. Eur J Hum Genet (2014) 0.78
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Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis. Am J Hum Genet (2016) 0.77
Regulation of sex determination in mice by a non-coding genomic region. Genetics (2014) 0.76
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. PLoS Genet (2017) 0.76
Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2. PLoS One (2012) 0.76
Purifying selection in deeply conserved human enhancers is more consistent than in coding sequences. PLoS One (2014) 0.76
Clinical and Molecular Characterisation of Children with Pierre Robin Sequence and Additional Anomalies. Mol Syndromol (2016) 0.75
Transferrin receptor facilitates TGF-β and BMP signaling activation to control craniofacial morphogenesis. Cell Death Dis (2016) 0.75
BMPR1B mutation causes Pierre Robin sequence. Oncotarget (2017) 0.75
Transcriptional Dynamics at Brain Enhancers: from Functional Specialization to Neurodegeneration. Curr Neurol Neurosci Rep (2016) 0.75
Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene. J Appl Genet (2014) 0.75
A Novel Regulatory Mechanism of Type II Collagen Expression via a SOX9-Dependent Enhancer in Intron 6. J Biol Chem (2016) 0.75
Divergent evolutionary rates in vertebrate and mammalian specific conserved non-coding elements (CNEs) in echolocating mammals. BMC Evol Biol (2014) 0.75
Meckel's and condylar cartilages anomalies in achondroplasia result in defective development and growth of the mandible. Hum Mol Genet (2016) 0.75
A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene. Turk Pediatri Ars (2014) 0.75
The RNA-binding landscape of RBM10 and its role in alternative splicing regulation in models of mouse early development. RNA Biol (2016) 0.75
A prenatally ascertained de novo terminal deletion of chromosomal bands 1q43q44 associated with multiple congenital abnormalities in a female fetus. Case Rep Genet (2015) 0.75
A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation. Genome Biol (2017) 0.75
Silencing effect of Hominoid highly conserved non-coding sequences on embryonic brain development. Genome Biol Evol (2017) 0.75
Intercellular Genetic Interaction Between Irf6 and Twist1 during Craniofacial Development. Sci Rep (2017) 0.75
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Pierre Robin sequence: a series of 117 consecutive cases. J Pediatr (2001) 1.41
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