Associated Papers
From renal biopsy to genetic diagnosis: EYA1 mutation in branchio-oto-renal syndrome with renal insufficiency.
Yang M et al.
Bmc Nephrology, 2025
The Diverse Genetic Landscape of Hearing Impairment in South African Families.
Bharadwaj T et al.
Clinical Genetics, 2025
Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of EYA1-Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion.
Graziani L et al.
Genes, 2025
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
Prenatal Phenotypic Analysis of Branchio-Oto-Renal Spectrum Disorder Attributable to EYA1 Gene Pathogenic Variants and Systematic Literature Review.
Tian Y et al.
Prenatal Diagnosis, 2024
CRISPR-based editing strategies to rectify EYA1 complex genomic rearrangement linked to haploinsufficiency.
Yi H et al.
Molecular Therapy. Nucleic Acids, 2024
Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.
Westenius E et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2024
Germline mutations and developmental mosaicism underlying EGFR-mutant lung cancer.
Burr R et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea.
Lee S et al.
Scientific Reports, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome.
Masuda M et al.
Scientific Reports, 2022
Comprehensive functional network analysis and screening of deleterious pathogenic variants in non-syndromic hearing loss causative genes.
Ray M et al.
Bioscience Reports, 2021
Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.
Chen A et al.
Clinical Genetics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Comprehensive analysis of syndromic hearing loss patients in Japan.
Ideura M et al.
Scientific Reports, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
EYA1-related disorders: two clinical cases and a literature review.
Castiglione A et al.
International Journal of Pediatric Otorhinolaryngology, 2014
EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis.
Li Y et al.
Biology of the Cell, 2010