Associated Papers
Leveraging underrepresented population data improves interpretation of genetic variants associated with hearing loss.
Joo SY et al.
Scientific Reports, 2025
41023131 (PubMed )
Supplement: 41598_2025_18852_MOESM1_ESM.pdf
Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility.
Zhang X et al.
Pediatric Rheumatology Online Journal, 2023
Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Hiramatsu K et al.
Genes, 2021
[UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE].
Cohen L et al.
Harefuah, 2017
Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.
Iwasa YI et al.
Plos One, 2016
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.
Basel-Vanagaite L et al.
Human Genetics, 2015
Select a paper to view details