Published in Hum Mol Genet on March 16, 2006
SOX2 is an amplified lineage-survival oncogene in lung and esophageal squamous cell carcinomas. Nat Genet (2009) 7.48
Multiple dose-dependent roles for Sox2 in the patterning and differentiation of anterior foregut endoderm. Development (2007) 3.56
The sox family of transcription factors: versatile regulators of stem and progenitor cell fate. Cell Stem Cell (2013) 2.97
Sox2-positive dermal papilla cells specify hair follicle type in mammalian epidermis. Development (2009) 2.82
Control of cell fate and differentiation by Sry-related high-mobility-group box (Sox) transcription factors. Int J Biochem Cell Biol (2007) 2.78
Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. Nat Genet (2011) 2.56
Anophthalmia and microphthalmia. Orphanet J Rare Dis (2007) 2.28
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest (2006) 2.27
Genetic regulation of pituitary gland development in human and mouse. Endocr Rev (2009) 2.02
Sox2 is required for development of taste bud sensory cells. Genes Dev (2006) 1.97
Septo-optic dysplasia. Eur J Hum Genet (2009) 1.48
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol (2007) 1.44
SOX2-LIN28/let-7 pathway regulates proliferation and neurogenesis in neural precursors. Proc Natl Acad Sci U S A (2013) 1.39
Multilayered epithelium in a rat model and human Barrett's esophagus: similar expression patterns of transcription factors and differentiation markers. BMC Gastroenterol (2008) 1.38
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. J Clin Endocrinol Metab (2008) 1.34
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. Am J Med Genet A (2009) 1.33
Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature. Eur J Med Genet (2009) 1.26
p27(Kip1) directly represses Sox2 during embryonic stem cell differentiation. Cell Stem Cell (2012) 1.23
Exportin 4 mediates a novel nuclear import pathway for Sox family transcription factors. J Cell Biol (2009) 1.22
Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression. Proc Natl Acad Sci U S A (2008) 1.17
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. Am J Hum Genet (2013) 1.12
Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet A (2012) 1.08
Etiology of esophageal atresia and tracheoesophageal fistula: "mind the gap". Curr Gastroenterol Rep (2010) 1.07
SOX2 and cancer: current research and its implications in the clinic. Clin Transl Med (2014) 1.06
Genetic and cellular mechanisms regulating anterior foregut and esophageal development. Dev Biol (2012) 1.04
SOX2 regulates the hypothalamic-pituitary axis at multiple levels. J Clin Invest (2012) 1.01
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. PLoS Genet (2011) 1.01
Diseases of pulmonary surfactant homeostasis. Annu Rev Pathol (2015) 1.01
Xenopus Sox3 activates sox2 and geminin and indirectly represses Xvent2 expression to induce neural progenitor formation at the expense of non-neural ectodermal derivatives. Mech Dev (2008) 1.00
Interaction of Sox1, Sox2, Sox3 and Oct4 during primary neurogenesis. Dev Biol (2010) 1.00
Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. Am J Med Genet A (2008) 0.97
Evolution of the insect Sox genes. BMC Evol Biol (2008) 0.94
Foregut separation and tracheo-oesophageal malformations: the role of tracheal outgrowth, dorso-ventral patterning and programmed cell death. Dev Biol (2009) 0.93
Novel SOX2 partner-factor domain mutation in a four-generation family. Eur J Hum Genet (2009) 0.92
Boundaries, junctions and transitions in the gastrointestinal tract. Exp Cell Res (2011) 0.90
Molecular mechanisms of Barrett's esophagus. Dig Dis Sci (2011) 0.89
The mouse notches up another success: understanding the causes of human vertebral malformation. Mamm Genome (2011) 0.86
SOX2 redirects the developmental fate of the intestinal epithelium toward a premature gastric phenotype. J Mol Cell Biol (2012) 0.85
A new model system swims into focus: using the zebrafish to visualize intestinal metabolism in vivo. Clin Lipidol (2009) 0.85
Embryology of oesophageal atresia. Semin Pediatr Surg (2009) 0.83
Genetic Overlap between Holoprosencephaly and Kallmann Syndrome. Mol Syndromol (2012) 0.82
One shall become two: Separation of the esophagus and trachea from the common foregut tube. Dev Dyn (2014) 0.82
Paradoxical role of SOX2 in gastric cancer. Am J Cancer Res (2016) 0.81
Structural pituitary abnormalities associated with CHARGE syndrome. J Clin Endocrinol Metab (2013) 0.80
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. Endocr Rev (2016) 0.80
SOX2 Promotes the Epithelial to Mesenchymal Transition of Esophageal Squamous Cells by Modulating Slug Expression through the Activation of STAT3/HIF-α Signaling. Int J Mol Sci (2015) 0.78
Adriamycin-Induced Models of VACTERL Association. Mol Syndromol (2013) 0.78
Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities. J Hum Genet (2014) 0.77
Disturbed balance between SOX2 and CDX2 in human vitelline duct anomalies and intestinal duplications. Virchows Arch (2013) 0.77
Mutational analysis of NOG in esophageal atresia and tracheoesophageal fistula patients. Pediatr Surg Int (2011) 0.76
Development and stem cells of the esophagus. Semin Cell Dev Biol (2016) 0.75
Unilateral Autosomal Recessive Anophthalmia in a Patient with Cystic Craniopharyngioma. Neuroophthalmology (2014) 0.75
Genetic and cellular mechanisms of the formation of esophageal atresia and tracheoesophageal fistula. Dis Esophagus (2013) 0.75
Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome. Ann Indian Acad Neurol (2013) 0.75
Deoxycholic acid (DCA) confers an intestinal phenotype on esophageal squamous epithelium via induction of the stemness-associated reprogramming factors OCT4 and SOX2. Cell Cycle (2016) 0.75
Parent-of-origin effects in SOX2 anophthalmia syndrome. Mol Vis (2011) 0.75
Horseshoe adrenal gland: a rare congenital anomaly. Surg Radiol Anat (2013) 0.75
Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet (2004) 8.85
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res (2013) 5.66
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
Mutations in SOX2 cause anophthalmia. Nat Genet (2003) 5.03
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr (2006) 2.97
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet (2004) 2.72
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet (2007) 2.51
Allele-specific histone lysine methylation marks regulatory regions at imprinted mouse genes. EMBO J (2002) 2.40
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet (2005) 2.38
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet (2002) 2.33
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum Mol Genet (2002) 2.33
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet (2006) 2.31
Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet (2005) 2.26
Identification of SATB2 as the cleft palate gene on 2q32-q33. Hum Mol Genet (2003) 2.25
SOX2 anophthalmia syndrome. Am J Med Genet A (2005) 2.24
Fine tuning of craniofacial morphology by distant-acting enhancers. Science (2013) 2.16
Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A (2007) 2.01
Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3. Proc Natl Acad Sci U S A (2009) 1.93
The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis. PLoS Genet (2009) 1.92
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol (2006) 1.89
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet (2005) 1.79
ACMG position statement on prenatal/preconception expanded carrier screening. Genet Med (2013) 1.78
New 3' elements control Pax6 expression in the developing pretectum, neural retina and olfactory region. Mech Dev (2002) 1.74
Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. Am J Hum Genet (2002) 1.71
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70
Enhancer-adoption as a mechanism of human developmental disease. Hum Mutat (2011) 1.70
Conserved elements in Pax6 intron 7 involved in (auto)regulation and alternative transcription. Dev Biol (2004) 1.65
Long-range downstream enhancers are essential for Pax6 expression. Dev Biol (2006) 1.62
Hsp90 selectively modulates phenotype in vertebrate development. PLoS Genet (2007) 1.60
Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence. PLoS Genet (2008) 1.59
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence. Hum Mutat (2014) 1.53
Variant detection sensitivity and biases in whole genome and exome sequencing. BMC Bioinformatics (2014) 1.52
Polymicrogyria and absence of pineal gland due to PAX6 mutation. Ann Neurol (2003) 1.50
Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae. Am J Med Genet A (2010) 1.49
Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations. Invest Ophthalmol Vis Sci (2009) 1.47
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Nat Genet (2011) 1.46
Pax6 is required to regulate the cell cycle and the rate of progression from symmetrical to asymmetrical division in mammalian cortical progenitors. Development (2002) 1.42
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. Am J Hum Genet (2011) 1.41
Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance. Mamm Genome (2002) 1.38
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. Am J Med Genet A (2006) 1.38
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci. Eur J Hum Genet (2010) 1.37
GDF6, a novel locus for a spectrum of ocular developmental anomalies. Am J Hum Genet (2006) 1.35
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. Oncotarget (2011) 1.31
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet (2012) 1.31
Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). Pediatr Radiol (2010) 1.28
Controlled overexpression of Pax6 in vivo negatively autoregulates the Pax6 locus, causing cell-autonomous defects of late cortical progenitor proliferation with little effect on cortical arealization. Development (2007) 1.28
Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. Am J Med Genet A (2008) 1.27
Aniridia. Eur J Hum Genet (2012) 1.24
Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome). J Med Genet (2011) 1.23
Role of SOX2 mutations in human hippocampal malformations and epilepsy. Epilepsia (2006) 1.22
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. Eur J Hum Genet (2011) 1.20
Mutated MESP2 causes spondylocostal dysostosis in humans. Am J Hum Genet (2004) 1.19
Developmental eye disorders. Curr Opin Genet Dev (2005) 1.19
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. Hum Mol Genet (2009) 1.14
X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype. J Child Neurol (2005) 1.11
Nicolaides-Baraitser syndrome: Delineation of the phenotype. Am J Med Genet A (2009) 1.11
Telomere length and obesity. Acta Paediatr (2008) 1.10
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. Am J Hum Genet (2012) 1.08
Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant? Eur J Med Genet (2010) 1.08
Letter to the editor regarding Disciglio et al.: interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome. Am J Med Genet A (2015) 1.08
Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. Am J Med Genet A (2008) 1.07
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. Mol Vis (2008) 1.06
FOXE3 plays a significant role in autosomal recessive microphthalmia. Am J Med Genet A (2010) 1.06
Quantitative MR image analysis in subjects with defects in the PAX6 gene. Neuroimage (2003) 1.05
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. Am J Med Genet A (2013) 1.04
Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome. Hum Genet (2014) 1.03
Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans. J Med Genet (2014) 1.03
Cited2 is required for the proper formation of the hyaloid vasculature and for lens morphogenesis. Development (2008) 1.02
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. Am J Hum Genet (2011) 1.02
Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations. Arch Pediatr Adolesc Med (2007) 1.01
CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1. Am J Hum Genet (2006) 1.01
The genetics of anophthalmia and microphthalmia. Curr Opin Ophthalmol (2011) 1.01
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. Hum Mol Genet (2013) 1.01
FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing. Genet Med (2009) 1.00
The evolutionary origin of human subtelomeric homologies--or where the ends begin. Am J Hum Genet (2002) 1.00
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. Eur J Hum Genet (2010) 1.00
Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. Am J Hum Genet (2013) 0.99
Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences. PLoS Genet (2013) 0.99
Formation errors of the vertebral column. J Bone Joint Surg Am (2007) 0.98
Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans. Ann N Y Acad Sci (2009) 0.98
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. Am J Hum Genet (2008) 0.97
Functional conservation of Pax6 regulatory elements in humans and mice demonstrated with a novel transgenic reporter mouse. BMC Dev Biol (2006) 0.97
Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1). Hum Mutat (2010) 0.96
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain (2012) 0.96
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype. Am J Hum Genet (2011) 0.96
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. Eur J Hum Genet (2007) 0.95
A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction. Mol Vis (2009) 0.95
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans. Hum Mutat (2011) 0.95
PAX6 mutations may be associated with high myopia. Ophthalmic Genet (2007) 0.95
Esrrg functions in early branch generation of the ureteric bud and is essential for normal development of the renal papilla. Hum Mol Genet (2010) 0.94