Published in Am J Hum Genet on February 22, 2005
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Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03
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Prdm16 is required for normal palatogenesis in mice. Hum Mol Genet (2009) 1.46
Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12). Cleft Palate Craniofac J (2009) 1.41
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
A misplaced lncRNA causes brachydactyly in humans. J Clin Invest (2012) 1.36
Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). Hum Genet (2007) 1.36
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
Ultra-high resolution array painting facilitates breakpoint sequencing. J Med Genet (2006) 1.25
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Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet (2005) 1.18
Analysis of early human neural crest development. Dev Biol (2010) 1.17
A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. Hum Mol Genet (2008) 1.14
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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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
Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis. Am J Med Genet A (2008) 0.99
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Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis. PLoS Genet (2012) 0.92
A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type. Hum Mol Genet (2012) 0.92
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Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9. Mol Genet Genomic Med (2015) 0.75
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Severe Neurological Phenotype in a Girl with Xp22.31 Triplication. Mol Syndromol (2017) 0.75
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Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region. Am J Hum Genet (1999) 1.47
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Dominant transmission of a previously unidentified 13/17 translocation in a five-generation family with Robin cleft and other skeletal defects. Am J Med Genet (2001) 1.22
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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
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Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med (2014) 4.00
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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
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