| scholarly article | Q13442814 |
| P50 | author | Ignacio del Castillo | Q37645167 |
| Fernando Mayo-Merino | Q55692041 | ||
| Matías Morín | Q59551153 | ||
| P2093 | author name string | Richard J H Smith | |
| Hela Azaiez | |||
| Kevin T Booth | |||
| Manuela Villamar | |||
| Luis Carlos Barrio | |||
| Patrick Huygen | |||
| Carmelo Morales | |||
| Beatriz Arellano | |||
| Dolores Tellería | |||
| Luciana Santos Serrão de Castro | |||
| Lucía Borreguero | |||
| M A Moreno Pelayo | |||
| María Lachgar | |||
| P2860 | cites work | EYA4, a novel vertebrate gene related to Drosophila eyes absent | Q22008660 |
| EYA4, deleted in a case with middle interhemispheric variant of holoprosencephaly, interacts with SIX3 both physically and functionally | Q24315040 | ||
| Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya | Q24554423 | ||
| A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10 | Q24676401 | ||
| HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. | Q27311312 | ||
| Eya protein phosphatase activity regulates Six1-Dach-Eya transcriptional effects in mammalian organogenesis | Q28185761 | ||
| The eye-specification proteins So and Eya form a complex and regulate multiple steps in Drosophila eye development | Q28258959 | ||
| Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus | Q28575439 | ||
| ESEfinder: A web resource to identify exonic splicing enhancers | Q29616126 | ||
| Listening to silence and understanding nonsense: exonic mutations that affect splicing | Q29618493 | ||
| Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss | Q30411232 | ||
| Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss | Q30450168 | ||
| In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment | Q30489007 | ||
| An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers | Q33249150 | ||
| Copy number variants are a common cause of non-syndromic hearing loss | Q33796395 | ||
| Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24. | Q33898514 | ||
| Pharmacologic role of cysteine in ameliorating or exacerbating mineral toxicities | Q34173021 | ||
| Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss | Q34398395 | ||
| TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. | Q34415041 | ||
| Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss | Q34426824 | ||
| Mammalian homologues of the Drosophila eye specification genes | Q34458289 | ||
| Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Q34465792 | ||
| Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations. | Q34675175 | ||
| Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. | Q34713545 | ||
| Human Splicing Finder: an online bioinformatics tool to predict splicing signals | Q34973311 | ||
| Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss. | Q34975356 | ||
| Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss | Q35187716 | ||
| A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness | Q35663740 | ||
| DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. | Q35889891 | ||
| Regulation of cytoplasmic mRNA decay | Q35955726 | ||
| Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients | Q36211885 | ||
| Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families | Q36392283 | ||
| The Eyes Absent proteins in development and disease | Q36597900 | ||
| Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss | Q36698845 | ||
| The eyes absent family of phosphotyrosine phosphatases: properties and roles in developmental regulation of transcription | Q36752910 | ||
| Atypical protein phosphatases: emerging players in cellular signaling | Q38084832 | ||
| Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization | Q39113625 | ||
| Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss | Q39407688 | ||
| DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System | Q39858965 | ||
| A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing | Q41158700 | ||
| Genes responsible for human hereditary deafness: symphony of a thousand | Q41244075 | ||
| Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation. | Q41436720 | ||
| A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10 | Q41742284 | ||
| Comparative analysis detects dependencies among the 5' splice-site positions | Q41807332 | ||
| De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation | Q41937734 | ||
| Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization | Q42430246 | ||
| A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression. | Q42820343 | ||
| Genetic epidemiological studies of early-onset deafness in the U.S. school-age population | Q45091804 | ||
| Improved splice site detection in Genie | Q46338894 | ||
| Eya4 regulation of Na+/K+-ATPase is required for sensory system development in zebrafish | Q46361442 | ||
| A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients | Q47650845 | ||
| A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members. | Q47759170 | ||
| Isolation of genes from complex sources of mammalian genomic DNA using exon amplification | Q48086265 | ||
| Prediction of human mRNA donor and acceptor sites from the DNA sequence | Q48219047 | ||
| Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals | Q48531006 | ||
| Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment | Q50351966 | ||
| Identification of a novel truncation mutation of EYA4 in moderate degree hearing loss by targeted exome sequencing | Q50352502 | ||
| DFNA10/EYA4--the clinical picture. | Q50485815 | ||
| Phenotypic manifestations of branchio-oto-renal syndrome. | Q50518283 | ||
| Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. | Q51809809 | ||
| Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain. | Q53854516 | ||
| A novel splice site mutation in EYA4 causes DFNA10 hearing loss. | Q55044079 | ||
| A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases | Q57536768 | ||
| VarSome: the human genomic variant search engine. | Q58093158 | ||
| Sensorineural hearing loss and mild cardiac phenotype caused by an mutation | Q58722472 | ||
| Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report | Q64052291 | ||
| Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment | Q88498139 | ||
| Prevalence and clinical features of hearing loss caused by EYA4 variants | Q89926715 | ||
| Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss | Q91029036 | ||
| Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees | Q92091313 | ||
| Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome | Q92405522 | ||
| Identification of a novel missense eya4 mutation causing autosomal dominant non‑syndromic hearing loss in a chinese family | Q92811944 | ||
| The mutational constraint spectrum quantified from variation in 141,456 humans | Q97664663 | ||
| P433 | issue | 1 | |
| P921 | main subject | hearing loss | Q16035842 |
| P304 | page(s) | 6213 | |
| P577 | publication date | 2020-04-10 | |
| P1433 | published in | Scientific Reports | Q2261792 |
| P1476 | title | Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants | |
| P478 | volume | 10 |
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