Published in Am J Hum Genet on January 18, 2001
Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet (2004) 8.85
Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseases. Bioessays (2004) 1.96
Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Hum Mol Genet (2011) 1.74
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. Eur J Hum Genet (2009) 1.58
Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. PLoS Genet (2010) 1.55
Cortical dysplasia and skull defects in mice with a Foxc1 allele reveal the role of meningeal differentiation in regulating cortical development. Proc Natl Acad Sci U S A (2007) 1.39
GDF6, a novel locus for a spectrum of ocular developmental anomalies. Am J Hum Genet (2006) 1.35
Genetics of anterior segment dysgenesis disorders. Curr Opin Ophthalmol (2011) 1.34
Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1. Am J Hum Genet (2001) 1.32
Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes. Mol Cell Endocrinol (2009) 1.25
Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure. BMC Genet (2001) 1.24
Clinical and experimental advances in congenital and paediatric cataracts. Philos Trans R Soc Lond B Biol Sci (2011) 1.20
A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation. Hum Mol Genet (2008) 1.09
FOXC1 transcriptional regulatory activity is impaired by PBX1 in a filamin A-mediated manner. Mol Cell Biol (2005) 1.00
Copy number variations and primary open-angle glaucoma. Invest Ophthalmol Vis Sci (2011) 0.99
Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment. BMC Med Genet (2004) 0.97
A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly. Eur J Hum Genet (2010) 0.95
FoxC1 is essential for vascular basement membrane integrity and hyaloid vessel morphogenesis. Invest Ophthalmol Vis Sci (2009) 0.94
Deficiency in Six2 during prenatal development is associated with reduced nephron number, chronic renal failure, and hypertension in Br/+ adult mice. Am J Physiol Renal Physiol (2009) 0.90
An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome. Birth Defects Res A Clin Mol Teratol (2006) 0.88
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders. Mol Cytogenet (2012) 0.87
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. Nat Commun (2016) 0.86
Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6. BMC Med Genomics (2013) 0.86
Genetic and genomic analysis of classic aniridia in Saudi Arabia. Mol Vis (2011) 0.85
Selection of thermodynamic models for combinatorial control of multiple transcription factors in early differentiation of embryonic stem cells. BMC Genomics (2008) 0.84
A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome. Mol Vis (2013) 0.84
Dysfunction of the stress-responsive FOXC1 transcription factor contributes to the earlier-onset glaucoma observed in Axenfeld-Rieger syndrome patients. Cell Death Dis (2014) 0.83
Essential structural and functional determinants within the forkhead domain of FOXC1. Nucleic Acids Res (2004) 0.82
Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies. Mol Vis (2009) 0.81
Gene therapy in glaucoma-part 2: Genetic etiology and gene mapping. Oman J Ophthalmol (2010) 0.81
Perturbations of the cerebrovascular matrisome: A convergent mechanism in small vessel disease of the brain? J Cereb Blood Flow Metab (2016) 0.80
A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia. Am J Med Genet A (2010) 0.80
Foxf2: a novel locus for anterior segment dysgenesis adjacent to the Foxc1 gene. PLoS One (2011) 0.80
Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability. PLoS One (2015) 0.79
Copy number variation at chromosome 5q21.2 is associated with intraocular pressure. Invest Ophthalmol Vis Sci (2013) 0.78
Genetic effects on human cognition: lessons from the study of mental retardation syndromes. J Neurol Neurosurg Psychiatry (2002) 0.76
Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome. Mol Vis (2007) 0.76
Loss of Foxm1 Results in Reduced Somatotrope Cell Number during Mouse Embryogenesis. PLoS One (2015) 0.75
Effects of targeted silencing of FOXC1 gene on proliferation and in vitro migration of human non-small-cell lung carcinoma cells. Am J Transl Res (2016) 0.75
Erratum. Invest Ophthalmol Vis Sci (2016) 0.75
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. Am J Hum Genet (2016) 0.75
Zebrafish foxc1a drives appendage-specific neural circuit development. Development (2015) 0.75
FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25. PLoS One (2017) 0.75
Major review: Molecular genetics of primary open-angle glaucoma. Exp Eye Res (2017) 0.75
Number of people with glaucoma worldwide. Br J Ophthalmol (1996) 14.31
Identification of a gene that causes primary open angle glaucoma. Science (1997) 8.14
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet (1994) 4.38
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet (1996) 4.21
Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet (1997) 3.83
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet (1998) 3.24
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet (1999) 3.24
Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. Cell (1996) 3.01
Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet (1998) 2.34
Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development. Hum Mol Genet (2000) 2.32
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. Am J Hum Genet (2000) 1.58
A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet (1996) 1.55
Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. Eur J Hum Genet (2000) 1.38
Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25. Am J Hum Genet (1996) 1.25
Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects. Dev Dyn (1999) 1.22
Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly. Am J Hum Genet (1997) 1.05
Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25. Am J Hum Genet (1997) 1.03
Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product? Am J Med Genet (1997) 0.96
The genetics of open-angle glaucoma: the story of GLC1A and myocilin. Eye (Lond) (2000) 0.95
The two-exon gene of the human forkhead transcription factor FREAC-2 (FKHL6) is located at 6p25.3. Genomics (1998) 0.86
Fine mapping of the gene for autosomal dominant juvenile-onset glaucoma with iridogoniodysgenesis in 6p25-tel. Hum Genet (1997) 0.86
Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet (1998) 19.35
Identification of a gene that causes primary open angle glaucoma. Science (1997) 8.14
Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science (1998) 7.08
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet (2000) 4.81
Acute hepatitis B virus infection: relation of age to the clinical expression of disease and subsequent development of the carrier state. J Infect Dis (1985) 4.47
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet (1997) 4.43
Cloning and sequencing of a deoxyribonucleic acid copy of glyceraldehyde-3-phosphate dehydrogenase messenger ribonucleic acid isolated from chicken muscle. Biochemistry (1983) 4.28
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet (1996) 4.21
A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). Science (1994) 4.02
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet (1999) 3.32
The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics (1993) 3.25
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet (1998) 3.24
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet (1999) 3.24
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) N Engl J Med (1998) 3.18
Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet (1993) 3.12
Integrated human genome-wide maps constructed using the CEPH reference panel. Nat Genet (1994) 3.06
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet (2001) 3.06
Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. N Engl J Med (1989) 3.03
Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. Am J Hum Genet (1995) 3.02
Nocturnal arterial hypotension and its role in optic nerve head and ocular ischemic disorders. Am J Ophthalmol (1994) 2.89
A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Nat Genet (1998) 2.82
Ninety patients with nonalcoholic steatohepatitis: insulin resistance, familial tendency, and severity of disease. Am J Gastroenterol (2001) 2.81
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat Genet (2001) 2.77
Identification of the bactericidal domain of lactoferrin. Biochim Biophys Acta (1992) 2.63
Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness. Proc Natl Acad Sci U S A (2000) 2.60
Frequency of prolonged remission duration after high-dose cytarabine intensification in acute myeloid leukemia varies by cytogenetic subtype. Cancer Res (1998) 2.56
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Mol Genet (2001) 2.56
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA (1999) 2.56
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet (1998) 2.53
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Mol Genet (1994) 2.52
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum Mol Genet (1995) 2.50
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum Mol Genet (2001) 2.48
Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet (2000) 2.45
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. Am J Hum Genet (1999) 2.42
Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol (2001) 2.38
The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet (1999) 2.32
Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development. Hum Mol Genet (2000) 2.32
How rapidly does the human mitochondrial genome evolve? Am J Hum Genet (1996) 2.31
Parental origin of mutations of the retinoblastoma gene. Nature (1989) 2.26
Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet (1993) 2.24
The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates. Am J Hum Genet (2003) 2.23
Pitfalls in homozygosity mapping. Am J Hum Genet (2000) 2.12
The conserved core of a human SIR2 homologue functions in yeast silencing. Mol Biol Cell (1999) 2.07
Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Arch Ophthalmol (1993) 2.05
Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nat Genet (1993) 2.05
Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol (1994) 2.05
Molecular basis of a progressive juvenile-onset hereditary cataract. Proc Natl Acad Sci U S A (2000) 2.04
Improved set of short-tandem-repeat polymorphisms for screening the human genome. Am J Hum Genet (1997) 2.03
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet (1996) 2.03
Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome. Hum Mol Genet (1995) 1.99
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. Arch Ophthalmol (1999) 1.94
Aetiology of congenital and paediatric cataract in an Australian population. Br J Ophthalmol (2002) 1.93
Trabeculectomy with mitomycin. A comparative study with fluorouracil. Arch Ophthalmol (1991) 1.91
An analysis of allelic variation in the ABCA4 gene. Invest Ophthalmol Vis Sci (2001) 1.90
Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol (2000) 1.89
Novel approaches to linkage mapping. Curr Opin Genet Dev (1995) 1.87
Chiropractic care of children with nocturnal enuresis: a prospective outcome study. J Manipulative Physiol Ther (1991) 1.85
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. Invest Ophthalmol Vis Sci (2000) 1.84
Field observations to determine the influence of population size, location and individual factors on pedestrian walking speeds. Ergonomics (2008) 1.84
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. Nat Genet (1998) 1.80
Examination of AVPR1a as an autism susceptibility gene. Mol Psychiatry (2004) 1.80
Antibacterial spectrum of lactoferricin B, a potent bactericidal peptide derived from the N-terminal region of bovine lactoferrin. J Appl Bacteriol (1992) 1.79
Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nat Genet (1992) 1.77
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat (2001) 1.77