Associated Papers
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
38766525 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Tollefson MR et al.
Human Genetics, 2023
37086329 (PubMed )
Supplement: 439_2023_2559_MOESM3_ESM.xlsx › Sheet1
Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.
Liu JL et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022
36549658 (PubMed )
Supplement: gfac338_supplemental_file.pdf
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