Published in Am J Hum Genet on November 27, 2013
The Shh Topological Domain Facilitates the Action of Remote Enhancers by Reducing the Effects of Genomic Distances. Dev Cell (2016) 1.45
Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafish. PLoS Genet (2015) 1.45
Genomic perspectives of transcriptional regulation in forebrain development. Neuron (2015) 0.97
Human Structural Variation: Mechanisms of Chromosome Rearrangements. Trends Genet (2015) 0.93
Sustained Pax6 Expression Generates Primate-like Basal Radial Glia in Developing Mouse Neocortex. PLoS Biol (2015) 0.93
Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences. Hum Genet (2014) 0.91
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome. Am J Hum Genet (2016) 0.85
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. PLoS One (2016) 0.82
Modeling congenital disease and inborn errors of development in Drosophila melanogaster. Dis Model Mech (2016) 0.79
Transcriptional and epigenetic mechanisms of early cortical development: An examination of how Pax6 coordinates cortical development. J Comp Neurol (2015) 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
Explaining the disease phenotype of intergenic SNP through predicted long range regulation. Nucleic Acids Res (2016) 0.76
The complexity of epigenetic diseases. J Pathol (2015) 0.76
Abnormal dosage of ultraconserved elements is highly disfavored in healthy cells but not cancer cells. PLoS Genet (2014) 0.76
Clinical utility gene card for: Aniridia. Eur J Hum Genet (2016) 0.76
The zebrafish eye-a paradigm for investigating human ocular genetics. Eye (Lond) (2016) 0.75
SBE6: a novel long-range enhancer involved in driving sonic hedgehog expression in neural progenitor cells. Open Biol (2016) 0.75
A nonsense PAX6 mutation in a family with congenital aniridia. Korean J Pediatr (2016) 0.75
PAX6 MiniPromoters drive restricted expression from rAAV in the adult mouse retina. Mol Ther Methods Clin Dev (2016) 0.75
The Gene Regulatory Network of Lens Induction Is Wired through Meis-Dependent Shadow Enhancers of Pax6. PLoS Genet (2016) 0.75
Signaling and Gene Regulatory Networks in Mammalian Lens Development. Trends Genet (2017) 0.75
Ultraconserved elements in the human genome. Science (2004) 17.14
Simple and highly efficient BAC recombineering using galK selection. Nucleic Acids Res (2005) 11.23
Highly conserved non-coding sequences are associated with vertebrate development. PLoS Biol (2004) 10.59
Mouse small eye results from mutations in a paired-like homeobox-containing gene. Nature (1992) 6.32
Deletion of ultraconserved elements yields viable mice. PLoS Biol (2007) 4.81
Phenotypic robustness conferred by apparently redundant transcriptional enhancers. Nature (2010) 3.72
Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes. J Biol Chem (1994) 3.22
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03
Distinct cis-essential modules direct the time-space pattern of the Pax6 gene activity. Dev Biol (1999) 2.70
Megabase deletions of gene deserts result in viable mice. Nature (2004) 2.68
Shadow enhancers foster robustness of Drosophila gastrulation. Curr Biol (2010) 2.63
A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. Science (2006) 2.58
Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding. Genes Dev (1999) 2.54
Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6. Hum Mol Genet (2001) 2.38
Regulation of Pax6 expression is conserved between mice and flies. Development (1999) 1.87
Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. Hum Mol Genet (1995) 1.86
3' deletions cause aniridia by preventing PAX6 gene expression. Proc Natl Acad Sci U S A (2000) 1.78
Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly. Hum Mol Genet (2007) 1.76
New 3' elements control Pax6 expression in the developing pretectum, neural retina and olfactory region. Mech Dev (2002) 1.74
Long-range downstream enhancers are essential for Pax6 expression. Dev Biol (2006) 1.62
Transgenesis in zebrafish with the tol2 transposon system. Methods Mol Biol (2009) 1.61
Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence. PLoS Genet (2008) 1.59
Zebrafish contains two pax6 genes involved in eye development. Mech Dev (1998) 1.58
Transposon-mediated BAC transgenesis in zebrafish. Nat Protoc (2011) 1.49
Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein. Nat Genet (2008) 1.45
A highly conserved lens transcriptional control element from the Pax-6 gene. Mech Dev (1998) 1.44
A new positive/negative selection scheme for precise BAC recombineering. Mol Biotechnol (2009) 1.37
Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye. Proc Natl Acad Sci U S A (2001) 1.36
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
Identification of pax6-dependent gene regulatory networks in the mouse lens. PLoS One (2009) 1.19
Cis-ruption mechanisms: disruption of cis-regulatory control as a cause of human genetic disease. Brief Funct Genomic Proteomic (2009) 1.18
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. Am J Hum Genet (2012) 1.17
Genetic dissection of Pax6 dosage requirements in the developing mouse eye. Hum Mol Genet (2005) 1.06
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
Identification and characterization of a neuroretina-specific enhancer element in the quail Pax-6 (Pax-QNR) gene. Mol Cell Biol (1995) 0.96
Simple, fast, tissue-specific bacterial artificial chromosome transgenesis in Xenopus. Genesis (2011) 0.89
Discovery and assessment of conserved Pax6 target genes and enhancers. Genome Res (2011) 0.88
Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet (2004) 8.85
Mutations in SOX2 cause anophthalmia. Nat Genet (2003) 5.03
The genome of the Western clawed frog Xenopus tropicalis. Science (2010) 4.70
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
Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet (2005) 2.26
Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse. Genome Res (2006) 2.26
SOX2 anophthalmia syndrome. Am J Med Genet A (2005) 2.24
Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease. Am J Hum Genet (2002) 2.23
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Hum Mol Genet (2006) 2.17
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
New 3' elements control Pax6 expression in the developing pretectum, neural retina and olfactory region. Mech Dev (2002) 1.74
A newly discovered mycobacterial pathogen isolated from laboratory colonies of Xenopus species with lethal infections produces a novel form of mycolactone, the Mycobacterium ulcerans macrolide toxin. Infect Immun (2005) 1.73
Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. Am J Hum Genet (2002) 1.71
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
Polymicrogyria and absence of pineal gland due to PAX6 mutation. Ann Neurol (2003) 1.50
Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations. Invest Ophthalmol Vis Sci (2009) 1.47
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
Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance. Mamm Genome (2002) 1.38
Genome-wide linkage analysis of severe, early-onset chronic obstructive pulmonary disease: airflow obstruction and chronic bronchitis phenotypes. Hum Mol Genet (2002) 1.36
GDF6, a novel locus for a spectrum of ocular developmental anomalies. Am J Hum Genet (2006) 1.35
The IL12B gene is associated with asthma. Am J Hum Genet (2004) 1.29
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
Potential impact on HIV incidence of higher HIV testing rates and earlier antiretroviral therapy initiation in MSM. AIDS (2015) 1.23
The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration. BMC Med Genet (2008) 1.22
Role of SOX2 mutations in human hippocampal malformations and epilepsy. Epilepsia (2006) 1.22
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. Orphanet J Rare Dis (2009) 1.20
Developmental eye disorders. Curr Opin Genet Dev (2005) 1.19
A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further genetic heterogeneity. Diabetes (2003) 1.17
Identification of genetic variants associated with response to statin therapy. Arterioscler Thromb Vasc Biol (2009) 1.15
Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation. Hum Mutat (2007) 1.14
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. Hum Mol Genet (2009) 1.14
Trends in HIV diagnoses, HIV care, and uptake of antiretroviral therapy among heterosexual adults in England, Wales, and Northern Ireland. Sex Transm Dis (2014) 1.11
Mosaic analysis of stem cell function and wound healing in the mouse corneal epithelium. BMC Dev Biol (2009) 1.09
Quantitative MR image analysis in subjects with defects in the PAX6 gene. Neuroimage (2003) 1.05
Patterning the forebrain: FoxA4a/Pintallavis and Xvent2 determine the posterior limit of Xanf1 expression in the neural plate. Development (2004) 1.02
Cited2 is required for the proper formation of the hyaloid vasculature and for lens morphogenesis. Development (2008) 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
A deletion 3' to the PAX6 gene in familial aniridia cases. Mol Vis (2007) 1.01
Exosome delivered anticancer drugs across the blood-brain barrier for brain cancer therapy in Danio rerio. Pharm Res (2015) 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
Functional conservation of Pax6 regulatory elements in humans and mice demonstrated with a novel transgenic reporter mouse. BMC Dev Biol (2006) 0.97
Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children. Orphanet J Rare Dis (2011) 0.96
Single-nucleotide polymorphisms in the interleukin-10 gene: differences in frequencies, linkage disequilibrium patterns, and haplotypes in three United States ethnic groups. Genomics (2002) 0.95
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
PAX6 mutations may be associated with high myopia. Ophthalmic Genet (2007) 0.95
The developmental regulator Pax6 is essential for maintenance of islet cell function in the adult mouse pancreas. PLoS One (2013) 0.94
Modelling the HIV epidemic among MSM in the United Kingdom: quantifying the contributions to HIV transmission to better inform prevention initiatives. AIDS (2015) 0.94
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
Deficient auditory interhemispheric transfer in patients with PAX6 mutations. Ann Neurol (2004) 0.93
Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion. J Med Genet (2007) 0.93
The first intron of the human osteopontin gene contains a C/EBP-beta-responsive enhancer. Gene Expr (2003) 0.92
Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences. Hum Genet (2014) 0.91
Incapacitating the evolutionary capacitor: Hsp90 modulation of disease. Curr Opin Genet Dev (2008) 0.90
Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma. Invest Ophthalmol Vis Sci (2004) 0.89
DNaseI hypersensitivity and ultraconservation reveal novel, interdependent long-range enhancers at the complex Pax6 cis-regulatory region. PLoS One (2011) 0.88
Discovery and assessment of conserved Pax6 target genes and enhancers. Genome Res (2011) 0.88
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome. Eur J Med Genet (2008) 0.84
Preventive periodontal regimen in Papillon-Lefèvre syndrome. Pediatr Dent (2005) 0.84
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. Hum Mol Genet (2012) 0.83
Early diagnosis and treatment of HIV infection: magnitude of benefit on short-term mortality is greatest in older adults. Age Ageing (2013) 0.83
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome. BMC Med Genet (2014) 0.83
Molecular analysis of a human PAX6 homeobox mutant. Eur J Hum Genet (2006) 0.82
Effects of elevated Pax6 expression and genetic background on mouse eye development. Invest Ophthalmol Vis Sci (2009) 0.82
Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations. Folia Neuropathol (2009) 0.82
Clinical utility gene card for: WAGR syndrome. Eur J Hum Genet (2011) 0.81
Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation. Int J Audiol (2007) 0.81
Comparison of the cardiovascular effects of unoprostone 0.15%, timolol 0.5% and placebo in healthy adults during exercise using a treadmill test. Acta Ophthalmol Scand (2002) 0.80
Familial Poland anomaly revisited. Am J Med Genet A (2011) 0.80
Demographic and psychosocial characteristics of smokers and nonsmokers in low-socioeconomic status rural Appalachian 2-parent families in Southern West Virginia. J Rural Health (2006) 0.79
Kdm3a lysine demethylase is an Hsp90 client required for cytoskeletal rearrangements during spermatogenesis. Mol Biol Cell (2014) 0.78
Genomic profiling of type-1 adult diabetic and aged normoglycemic mouse liver. BMC Endocr Disord (2014) 0.78
Loss to Follow-Up After Pregnancy Among Sub-Saharan Africa-Born Women Living With Human Immunodeficiency Virus in England, Wales and Northern Ireland: Results From a Large National Cohort. Sex Transm Dis (2016) 0.78
Turned off by RNA. Nat Genet (2003) 0.78
Malformations following methimazole exposure in utero: an open issue. Birth Defects Res A Clin Mol Teratol (2003) 0.77
Rounding up active cis-elements in the triple C corral: combining conservation, cleavage and conformation capture for the analysis of regulatory gene domains. Brief Funct Genomic Proteomic (2004) 0.77
Bereavement and bereavement care in health and social care: provision and practice in Scotland. Death Stud (2009) 0.77
Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations. PLoS One (2013) 0.77
Novel mutations in the L1CAM gene support the complexity of L1 syndrome. J Neurol Sci (2010) 0.77
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. Am J Med Genet A (2008) 0.76