Published in Eur J Hum Genet on November 27, 2013
Whole exome sequence analysis of Peters anomaly. Hum Genet (2014) 0.96
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Contiguous mutation syndrome in the era of high-throughput sequencing. Mol Genet Genomic Med (2015) 0.78
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Cancer Activation and Polymorphisms of Human Cytochrome P450 1B1. Toxicol Res (2016) 0.75
Developments in Ocular Genetics: 2013 Annual Review. Asia Pac J Ophthalmol (Phila) (2015) 0.75
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes. Mol Vis (2016) 0.75
A Baseline Algorithm for Molecular Diagnosis of Genetic Eye Diseases: Ophthalmologist's Perspective. Turk J Ophthalmol (2016) 0.75
Ocular cytochrome P450s and transporters: roles in disease and endobiotic and xenobiotic disposition. Drug Metab Rev (2014) 0.75
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma. Orphanet J Rare Dis (2016) 0.75
Genetic Advances in Microphthalmia. J Pediatr Genet (2016) 0.75
Diagnostic exome sequencing in 266 Dutch patients with visual impairment. Eur J Hum Genet (2017) 0.75
The Sequence Alignment/Map format and SAMtools. Bioinformatics (2009) 232.39
Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics (2009) 190.94
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51
A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res (2010) 43.51
Predicting deleterious amino acid substitutions. Genome Res (2001) 28.95
MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods (2010) 16.61
Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med (2012) 10.80
dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions. Hum Mutat (2011) 6.97
Mutations in SOX2 cause anophthalmia. Nat Genet (2003) 5.03
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat Genet (1994) 3.38
A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Nat Genet (1998) 2.82
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
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Next-generation genetic testing for retinitis pigmentosa. Hum Mutat (2012) 2.30
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
Ocular coloboma: a reassessment in the age of molecular neuroscience. J Med Genet (2004) 1.99
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet (2008) 1.86
Classification of corneal endothelial disorders based on neural crest origin. Ophthalmology (1984) 1.81
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract. J Med Genet (2007) 1.77
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. Invest Ophthalmol Vis Sci (2007) 1.70
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Investigation of crystallin genes in familial cataract, and report of two disease associated mutations. Br J Ophthalmol (2004) 1.49
Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea. Mol Vis (2006) 1.44
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. Hum Mol Genet (2009) 1.32
RALDH-independent generation of retinoic acid during vertebrate embryogenesis by CYP1B1. Development (2007) 1.28
ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis. Nat Genet (2012) 1.25
Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. Am J Med Genet A (2006) 1.23
Effects of alpha-crystallin on lens cell function and cataract pathology. Curr Mol Med (2009) 1.21
Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. Am J Hum Genet (2008) 1.16
Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. J Med Genet (2001) 1.06
FOXE3 plays a significant role in autosomal recessive microphthalmia. Am J Med Genet A (2010) 1.06
Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia. Mol Vis (2010) 1.05
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. Invest Ophthalmol Vis Sci (2009) 1.05
ABCB6 mutations cause ocular coloboma. Am J Hum Genet (2012) 1.04
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. Hum Mutat (2008) 1.00
The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts. Blood (2002) 0.97
Retinoic acid receptor signaling regulates choroid fissure closure through independent mechanisms in the ventral optic cup and periocular mesenchyme. Proc Natl Acad Sci U S A (2011) 0.96
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
Further support of the role of CYP1B1 in patients with Peters anomaly. Mol Vis (2006) 0.94
Novel SOX2 partner-factor domain mutation in a four-generation family. Eur J Hum Genet (2009) 0.92
Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3. Mol Vis (2008) 0.84
Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations. BMC Med Genet (2011) 0.79
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study. JAMA Oncol (2017) 1.00
An Immunochip-based interaction study of contrasting interaction effects with smoking in ACPA-positive versus ACPA-negative rheumatoid arthritis. Rheumatology (Oxford) (2015) 0.78
Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies. Sci Rep (2016) 0.75