Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. (scientific article)

The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts

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A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

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Diagnostic exome sequencing in persons with severe intellectual disability

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Congenital eye malformations: Clinical-epidemiological analysis of 1,124,654 consecutive births in Spain

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Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract

Q62127831

Classification of corneal endothelial disorders based on neural crest origin

Q70571020

Heterozygous mutations of OTX2 cause severe ocular malformations

Q24530768

Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.

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Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia

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FOXE3 plays a significant role in autosomal recessive microphthalmia

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A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly

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Fast and accurate short read alignment with Burrows-Wheeler transform

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Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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A method and server for predicting damaging missense mutations

Q27860835

The Sequence Alignment/Map format and SAMtools

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Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

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Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

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ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis

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Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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MutationTaster evaluates disease-causing potential of sequence alterations

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Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations

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Mutations in SOX2 cause anophthalmia

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Novel SOX2 partner-factor domain mutation in a four-generation family

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Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.

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Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

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Retinoic acid receptor signaling regulates choroid fissure closure through independent mechanisms in the ventral optic cup and periocular mesenchyme

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Ocular coloboma: a reassessment in the age of molecular neuroscience

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Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.

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Next-generation genetic testing for retinitis pigmentosa

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Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways

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Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3.

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Effects of alpha-crystallin on lens cell function and cataract pathology.

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dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

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Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain

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Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.

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RALDH-independent generation of retinoic acid during vertebrate embryogenesis by CYP1B1.

Q51058548

Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.

Q52012746

Further support of the role of CYP1B1 in patients with Peters anomaly.

Q52016463

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.

Q54174869

P433

issue

P921

main subject

eye disease

Q3041498

P304

page(s)

907-915

P577

publication date

2013-11-27

P1433

published in

European Journal of Human Genetics

Q2155433

P1476

title

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

P478

volume

Reverse relations

cites work (P2860)

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