Associated Papers
Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.
King J et al.
Cell Reports, 2025
41124077 (PubMed )
Supplement: NIHMS2125804-supplement-2.xlsx › TableS1A
Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.
King J et al.
Biorxiv : the Preprint Server for Biology, 2025
40488133 (PubMed )
Supplement: media-2.xlsx › gnomAD
Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing.
Zafar A et al.
International Journal of Molecular Sciences, 2025
40141357 (PubMed )
Supplement: ijms-26-02715-s001.zip › Table_S2.pdf
Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.
Akbar W et al.
The Journal of Gene Medicine, 2024
Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients.
Basharat R et al.
Genes, 2023
Spectrum of congenital and inherited ocular disorders seen in a genetic clinic: Experience of a developing ocular genetic service.
Sahu A et al.
Indian Journal of Ophthalmology, 2023
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.
Reis LM et al.
Human Molecular Genetics, 2021
Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases.
Rashid M et al.
Plos One, 2020
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.
Reis LM et al.
Human Genetics, 2019
Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature.
Quiroz-Casian N et al.
Cornea, 2018
FOXE3 mutations: genotype-phenotype correlations.
Plaisancié J et al.
Clinical Genetics, 2018
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 sequencing: Uncovering causal genetic variants for ocular diseases.
Gupta S et al.
Experimental Eye Research, 2017
Genetic analysis of consanguineous families presenting with congenital ocular defects.
Ullah E et al.
Experimental Eye Research, 2016
Personalized diagnosis and management of congenital cataract by next-generation sequencing.
Gillespie RL et al.
Ophthalmology, 2014
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