Published in Am J Med Genet A on March 01, 2010
Genetics of anterior segment dysgenesis disorders. Curr Opin Ophthalmol (2011) 1.34
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Hum Genet (2011) 1.18
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. Eur J Hum Genet (2013) 1.09
Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia. Mol Vis (2010) 1.05
Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma. Mol Vis (2010) 1.03
Whole-genome copy number variation analysis in anophthalmia and microphthalmia. Clin Genet (2013) 0.97
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. Mol Genet Genomic Med (2013) 0.96
Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. Clin Genet (2014) 0.88
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma. Eur J Hum Genet (2015) 0.84
VSX2 mutations in autosomal recessive microphthalmia. Mol Vis (2011) 0.81
Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations. BMC Med Genet (2011) 0.79
A trans-acting protein effect causes severe eye malformation in the Mp mouse. PLoS Genet (2013) 0.78
FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. J Clin Invest (2016) 0.78
Growth inhibition of human lens epithelial cells by short hairpin RNA in transcription factor forkhead box E3 (FOXE3). Graefes Arch Clin Exp Ophthalmol (2012) 0.77
Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis. Mol Syndromol (2017) 0.76
Analysis of FOXD3 sequence variation in human ocular disease. Mol Vis (2012) 0.76
Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma. Birth Defects Res C Embryo Today (2015) 0.76
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes. Mol Vis (2016) 0.75
Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family. Genet Mol Biol (2017) 0.75
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. J Med Genet (2002) 2.39
Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet (2005) 2.26
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet (2000) 2.13
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. Hum Mol Genet (2003) 1.93
Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Hum Mol Genet (2001) 1.66
A forkhead gene, FoxE3, is essential for lens epithelial proliferation and closure of the lens vesicle. Genes Dev (2000) 1.65
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. Am J Hum Genet (2006) 1.40
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. Hum Genet (2004) 1.28
Forkhead Foxe3 maps to the dysgenetic lens locus and is critical in lens development and differentiation. Genesis (2000) 1.28
Foxe3 haploinsufficiency in mice: a model for Peters' anomaly. Invest Ophthalmol Vis Sci (2002) 1.26
Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies. Hum Mutat (2009) 1.20
Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. Am J Med Genet A (2006) 1.16
Mutation analysis of B3GALTL in Peters Plus syndrome. Am J Med Genet A (2008) 1.16
Confirmation of RAX gene involvement in human anophthalmia. Clin Genet (2008) 1.01
Zebrafish foxe3: roles in ocular lens morphogenesis through interaction with pitx3. Mech Dev (2006) 0.99
Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. Am J Med Genet A (2008) 0.97
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. Clin Genet (2007) 0.96
Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32. Br J Ophthalmol (1999) 0.91
Dysgenetic lens (dyl)--a new gene in the mouse. Invest Ophthalmol Vis Sci (1979) 0.86
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
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40
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
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Hum Mol Genet (2006) 2.17
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet (2010) 2.12
ACMG position statement on prenatal/preconception expanded carrier screening. Genet Med (2013) 1.78
Copy number variation plays an important role in clinical epilepsy. Ann Neurol (2014) 1.73
Selective loss of dopaminergic neurons in the substantia nigra of Pitx3-deficient aphakia mice. Brain Res Mol Brain Res (2003) 1.66
VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. Ophthalmology (2004) 1.58
Differential regulation of gene expression by PITX2 isoforms. J Biol Chem (2002) 1.41
Genetics of anterior segment dysgenesis disorders. Curr Opin Ophthalmol (2011) 1.34
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. Am J Med Genet A (2009) 1.33
Current molecular understanding of Axenfeld-Rieger syndrome. Expert Rev Mol Med (2005) 1.29
Bupropion in pregnancy and the prevalence of congenital malformations. Pharmacoepidemiol Drug Saf (2007) 1.23
Role of SOX2 mutations in human hippocampal malformations and epilepsy. Epilepsia (2006) 1.22
A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome. Hum Mol Genet (2002) 1.21
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Hum Genet (2011) 1.18
Mutation analysis of B3GALTL in Peters Plus syndrome. Am J Med Genet A (2008) 1.16
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet (2009) 1.15
PITX2 and FOXC1 spectrum of mutations in ocular syndromes. Eur J Hum Genet (2012) 1.10
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. Hum Genet (2013) 1.09
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. Mol Vis (2008) 1.06
Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia. Mol Vis (2010) 1.05
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
A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome. Hum Mol Genet (2013) 1.00
Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about. Case Rep Pediatr (2013) 1.00
Functional analysis of human mutations in homeodomain transcription factor PITX3. BMC Mol Biol (2007) 0.97
Whole exome sequence analysis of Peters anomaly. Hum Genet (2014) 0.96
Protein kinase C phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homeodomain protein. Biochemistry (2005) 0.95
Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2. Invest Ophthalmol Vis Sci (2011) 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
laminin alpha 1 gene is essential for normal lens development in zebrafish. BMC Dev Biol (2006) 0.94
Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. Genet Med (2011) 0.94
MIP/Aquaporin 0 represents a direct transcriptional target of PITX3 in the developing lens. PLoS One (2011) 0.94
A male with unilateral microphthalmia reveals a role for TMX3 in eye development. PLoS One (2010) 0.92
Biomarkers of alcohol use in pregnancy. Alcohol Res Health (2008) 0.91
Analysis of two translocation breakpoints and identification of a negative regulatory element in patients with Rieger's syndrome. Birth Defects Res A Clin Mol Teratol (2004) 0.90
pitx2 Deficiency results in abnormal ocular and craniofacial development in zebrafish. PLoS One (2012) 0.89
Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. Neurology (2013) 0.89
Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome. BMC Med Genet (2006) 0.88
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. J Med Genet (2012) 0.88
Oculo-ectodermal syndrome: report of a case with mosaicism for a deletion on Xq12. Am J Med Genet A (2011) 0.88
Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies. BMC Genet (2010) 0.87
A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome. Ophthalmic Genet (2004) 0.87
PITX2 is involved in stress response in cultured human trabecular meshwork cells through regulation of SLC13A3. Invest Ophthalmol Vis Sci (2011) 0.86
Exclusion of PITX2 mutations as a major cause of CHARGE association. Am J Med Genet (2002) 0.86
Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience : Education and Barriers assessment for Jewish Genetic Diseases. J Community Genet (2014) 0.84
Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes. Mol Vis (2010) 0.84
An 18-year follow-up report on an infant with a duplication of 9q34. Am J Med Genet A (2010) 0.83
Mitral valve prolapse in Marfan syndrome: an old topic revisited. Echocardiography (2008) 0.83
VSX2 mutations in autosomal recessive microphthalmia. Mol Vis (2011) 0.81
Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry. Am J Med Genet A (2005) 0.80
Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis. JIMD Rep (2012) 0.79
Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations. BMC Med Genet (2011) 0.79
Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy. Am J Med Genet A (2011) 0.79
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics. Orphanet J Rare Dis (2014) 0.78
Monozygotic twins discordant for VACTERL association. Prenat Diagn (2008) 0.77
Analysis of FOXD3 sequence variation in human ocular disease. Mol Vis (2012) 0.76
Anatomical asplenia in cat eye syndrome: an expansion of the disease spectrum. Case Rep Pediatr (2013) 0.75
A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1. Ophthalmic Genet (2013) 0.75
Magnetic resonance imaging for detection of brain abnormalities in fetuses with cleft lip and/or cleft palate. Cleft Palate Craniofac J (2010) 0.75
Audiologic findings in Saethre-Chotzen syndrome. Plast Reconstr Surg (2011) 0.75
Application of genetic approaches to ocular disease. Pediatr Clin North Am (2006) 0.75
Prenatal and Postnatal Genetic Testing: Why, How, and When? Pediatr Ann (2017) 0.75
Congenital malformations among infants born to women receiving montelukast, inhaled corticosteroids, and other asthma medications. J Allergy Clin Immunol (2011) 0.75
Progressive Postnatal Pansynostosis. Cleft Palate Craniofac J (2014) 0.75