Associated Papers
Application of next-generation sequencing to determine mutations in candidate genes for congenital eye malformations in the Mexican indigenous population.
García-Montalvo IA et al.
Frontiers in Genetics, 2025
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.
Umeda M et al.
Blood Cancer Discovery, 2022
35176137 (PubMed )
Supplement: bcd-21-0160_supplemental_tables_supp1-32.xlsx › Table_S12_SNV_indel
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.
Reis LM et al.
Human Molecular Genetics, 2021
Transcriptome analysis of the zebrafish atoh7-/- Mutant, lakritz, highlights Atoh7-dependent genetic networks with potential implications for human eye diseases.
Covello G et al.
Faseb Bioadvances, 2020
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.
Reis LM et al.
Human Genetics, 2019
Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.
Anand D et al.
Human Mutation, 2018
Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.
Deml B et al.
Clinical Genetics, 2014
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1696.600
Mutational screening of FOXE3, GDF3, ATOH7, and ALDH1A3 in congenital ocular malformations. Possible contribution of the FOXE3 p.VAL201MET variant to the risk of severe eye malformations.
Garcia-Montalvo IA et al.
Ophthalmic Genetics, 2014
Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.
Jimenez NL et al.
Bmc Medical Genetics, 2011
FOXE3 plays a significant role in autosomal recessive microphthalmia.
Reis LM et al.
American Journal of Medical Genetics. Part A, 2010
Select a paper to view details