Associated Papers
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC
Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus.
Rad A et al.
Human Mutation, 2021
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Čopíková J et al.
Annals of Human Genetics, 2020
Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea.
Kim SY et al.
Diagnostics (basel, Switzerland), 2020
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
Booth KT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A et al.
Ear and Hearing, 0
Select a paper to view details