Associated Papers
A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene.
Takeda A et al.
Molecular Genetics & Genomic Medicine, 2023
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Yépez VA et al.
Genome Medicine, 2022
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines.
Alston CL et al.
The Journal of Pathology, 2021
Detection of aberrant splicing events in RNA-seq data using FRASER.
Mertes C et al.
Nature Communications, 2021
When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription.
Ferri L et al.
Clinical Genetics, 2016
Select a paper to view details