Published in Mol Vis on March 24, 2008
Human cytomegalovirus infection causes premature and abnormal differentiation of human neural progenitor cells. J Virol (2010) 1.38
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. Am J Med Genet A (2009) 1.33
Modeling human retinal development with patient-specific induced pluripotent stem cells reveals multiple roles for visual system homeobox 2. Stem Cells (2014) 0.99
Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. Mol Vis (2008) 0.95
Novel SOX2 partner-factor domain mutation in a four-generation family. Eur J Hum Genet (2009) 0.92
Reprogramming of human pancreatic exocrine cells to β-like cells. Cell Death Differ (2014) 0.87
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. Eur J Hum Genet (2011) 0.86
A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1. Hum Genet (2009) 0.85
Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy. Hum Genet (2010) 0.82
Cleft Palate in a Mouse Model of SOX2 Haploinsufficiency. Cleft Palate Craniofac J (2013) 0.77
Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research. Balkan J Med Genet (2016) 0.75
Congenital aplasia of the optic chiasm and esophageal atresia: a case report. J Med Case Rep (2011) 0.75
Genetic chimeras reveal the autonomy requirements for Vsx2 in embryonic retinal progenitor cells. Neural Dev (2015) 0.75
Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders. Hum Genet (2016) 0.75
Multipotent cell lineages in early mouse development depend on SOX2 function. Genes Dev (2003) 12.38
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet (2004) 6.90
Mouse small eye results from mutations in a paired-like homeobox-containing gene. Nature (1992) 6.32
Mutations in SOX2 cause anophthalmia. Nat Genet (2003) 5.03
Regulatory networks in embryo-derived pluripotent stem cells. Nat Rev Mol Cell Biol (2005) 4.52
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet (1994) 4.38
Sox2 deficiency causes neurodegeneration and impaired neurogenesis in the adult mouse brain. Development (2004) 3.75
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet (1994) 2.85
Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation. Nat Genet (1996) 2.75
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet (2004) 2.72
Identification of Sox-2 regulatory region which is under the control of Oct-3/4-Sox-2 complex. Nucleic Acids Res (2002) 2.49
Anophthalmia and microphthalmia. Orphanet J Rare Dis (2007) 2.28
Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet (2005) 2.26
SOX2 anophthalmia syndrome. Am J Med Genet A (2005) 2.24
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet (2005) 2.22
Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development. Genes Dev (2001) 2.18
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet (2000) 2.13
Developmental expression of a novel murine homeobox gene (Chx10): evidence for roles in determination of the neuroretina and inner nuclear layer. Neuron (1994) 2.02
Frizzled 5 signaling governs the neural potential of progenitors in the developing Xenopus retina. Neuron (2005) 1.80
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. Am J Med Genet A (2005) 1.59
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am J Med Genet A (2003) 1.54
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol (2007) 1.44
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. Hum Genet (2004) 1.28
Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene. Clin Genet (2005) 1.24
The epidemiology of anophthalmia and microphthalmia in Sweden. Eur J Epidemiol (2005) 1.04
Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997. Am J Med Genet A (2005) 1.04
Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome. Am J Med Genet (2001) 0.99
Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia. Am J Med Genet A (2004) 0.98
Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2. Prenat Diagn (2004) 0.96
Two sibs with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome). Am J Med Genet (1996) 0.94
Anophthalmia and microphthalmia in the Alberta Congenital Anomalies Surveillance System. Can J Ophthalmol (2005) 0.90
Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2). Am J Med Genet (1999) 0.81
Association of anophthalmia and esophageal atresia. Am J Med Genet (1995) 0.80
Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia. Am J Med Genet A (2004) 0.77
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet (2010) 2.75
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet (2004) 2.72
Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Pediatr Cardiol (2011) 2.66
A primer for morpholino use in zebrafish. Zebrafish (2009) 2.60
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat Genet (2013) 2.36
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet (2002) 2.33
SOX2 anophthalmia syndrome. Am J Med Genet A (2005) 2.24
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet (2003) 2.23
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Hum Mol Genet (2006) 2.17
A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25. Nat Genet (2010) 2.10
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. Nat Genet (2012) 2.05
A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. Nat Genet (2010) 1.94
WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn (2010) 1.91
ACMG position statement on prenatal/preconception expanded carrier screening. Genet Med (2013) 1.78
Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays. Nucleic Acids Res (2010) 1.77
New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. Invest Ophthalmol Vis Sci (2003) 1.77
Testability of vision and refraction in preschoolers: the strabismus, amblyopia, and refractive error study in singaporean children. Am J Ophthalmol (2009) 1.65
Methodology of the Singapore Indian Chinese Cohort (SICC) eye study: quantifying ethnic variations in the epidemiology of eye diseases in Asians. Ophthalmic Epidemiol (2009) 1.64
Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretome. PLoS One (2006) 1.60
Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype. Arch Dermatol (2005) 1.60
Optical coherence tomography in the evaluation of neurofibromatosis type-1 subjects with optic pathway gliomas. J AAPOS (2010) 1.60
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. PLoS Genet (2010) 1.57
Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. PLoS Genet (2010) 1.55
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. Hum Mol Genet (2010) 1.53
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. J AAPOS (2013) 1.52
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat Genet (2013) 1.49
Prevalence of refractive error in Singaporean Chinese children: the strabismus, amblyopia, and refractive error in young Singaporean Children (STARS) study. Invest Ophthalmol Vis Sci (2009) 1.48
Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese. Ophthalmology (2010) 1.44
Prevalence of amblyopia and strabismus in young singaporean chinese children. Invest Ophthalmol Vis Sci (2010) 1.42
Identification of a novel locus on 2q for autosomal dominant high-grade myopia. Invest Ophthalmol Vis Sci (2005) 1.40
The unique association of iris heterochromia with Hermansky-Pudlak syndrome. J AAPOS (2013) 1.39
Axenfeld-Rieger syndrome: new perspectives. Br J Ophthalmol (2011) 1.35
Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities. Am J Hum Genet (2007) 1.34
Common genetic determinants of intraocular pressure and primary open-angle glaucoma. PLoS Genet (2012) 1.33
The natural history of glaucoma and ocular hypertension after pediatric cataract surgery. J AAPOS (2006) 1.27
An international collaborative family-based whole-genome linkage scan for high-grade myopia. Invest Ophthalmol Vis Sci (2009) 1.25
Myopia genetics: a review of current research and emerging trends. Curr Opin Ophthalmol (2009) 1.24
Role of SOX2 mutations in human hippocampal malformations and epilepsy. Epilepsia (2006) 1.22
Next generation sequencing in research and diagnostics of ocular birth defects. Mol Genet Metab (2010) 1.21
Family history, near work, outdoor activity, and myopia in Singapore Chinese preschool children. Br J Ophthalmol (2010) 1.19
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Hum Genet (2011) 1.18
Genetic variants on chromosome 1q41 influence ocular axial length and high myopia. PLoS Genet (2012) 1.17
Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota. Mol Vis (2007) 1.16
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Hum Mutat (2012) 1.15
Twins eye study in Tasmania (TEST): rationale and methodology to recruit and examine twins. Twin Res Hum Genet (2009) 1.11
Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium. Hum Genet (2012) 1.09
Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. J Clin Endocrinol Metab (2012) 1.09
Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study. Arch Ophthalmol (2006) 1.09
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. Am J Hum Genet (2013) 1.06
FOXE3 plays a significant role in autosomal recessive microphthalmia. Am J Med Genet A (2010) 1.06
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. J Clin Invest (2016) 1.05
Hepatocyte growth factor and myopia: genetic association analyses in a Caucasian population. Mol Vis (2009) 1.05
Neonatal diabetes and congenital malabsorptive diarrhea attributable to a novel mutation in the human neurogenin-3 gene coding sequence. J Clin Endocrinol Metab (2011) 1.05
Detection of cytomegalovirus DNA in dried blood spots of Minnesota infants who do not pass newborn hearing screening. Pediatr Infect Dis J (2009) 1.03
The lineage-specific gene ponzr1 is essential for zebrafish pronephric and pharyngeal arch development. Development (2012) 1.02
Myopia-related fundus changes in Singapore adults with high myopia. Am J Ophthalmol (2013) 1.02
Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. Am J Med Genet A (2005) 1.01
The genetics of anophthalmia and microphthalmia. Curr Opin Ophthalmol (2011) 1.01
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. PLoS Genet (2011) 1.01
COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. Invest Ophthalmol Vis Sci (2009) 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
TLR9 polymorphisms are associated with altered IFN-gamma levels in children with cerebral malaria. Am J Trop Med Hyg (2010) 1.00
Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort. Invest Ophthalmol Vis Sci (2010) 1.00
Development and Notch signaling requirements of the zebrafish choroid plexus. PLoS One (2008) 1.00
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. Am J Hum Genet (2013) 0.99
Genetic contributions to myopic refractive error: Insights from human studies and supporting evidence from animal models. Exp Eye Res (2013) 0.98
Differential gene expression in mouse sclera during ocular development. Invest Ophthalmol Vis Sci (2006) 0.98
Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. Am J Med Genet A (2008) 0.97
Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity. Mol Vis (2005) 0.96
Emerging trends in breastfeeding practices in Singaporean Chinese women: findings from a population-based study. Ann Acad Med Singapore (2010) 0.96
CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States. Am J Ophthalmol (2012) 0.95
An evidence-based update on myopia and interventions to retard its progression. J AAPOS (2011) 0.95
Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. Mol Vis (2008) 0.95
Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafness. Genet Med (2003) 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
Sequence variants in the transforming growth beta-induced factor (TGIF) gene are not associated with high myopia. Invest Ophthalmol Vis Sci (2004) 0.95
Birth order and myopia. Ophthalmic Epidemiol (2013) 0.94
Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. Genet Med (2011) 0.94
What is the appropriate age cut-off for cycloplegia in refraction? Acta Ophthalmol (2014) 0.94
Genomic structure and organization of the high grade Myopia-2 locus (MYP2) critical region: mutation screening of 9 positional candidate genes. Mol Vis (2005) 0.93
Quantitative genetic analysis of the retinal vascular caliber: the Australian Twins Eye Study. Hypertension (2009) 0.92
Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology. Genet Epidemiol (2015) 0.92
Identification of a candidate gene for astigmatism. Invest Ophthalmol Vis Sci (2013) 0.92
A male with unilateral microphthalmia reveals a role for TMX3 in eye development. PLoS One (2010) 0.92
A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2. Hum Mol Genet (2013) 0.91
Replication of the recessive STBMS1 locus but with dominant inheritance. Invest Ophthalmol Vis Sci (2009) 0.90
Neurocutaneous melanosis in association with encephalocraniocutaneous lipomatosis. J Am Acad Dermatol (2002) 0.90
Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility. Mol Vis (2012) 0.89
Ethnic differences in parental perceptions of genetic testing for deaf infants. J Genet Couns (2007) 0.89