Associated Papers
Mitochondria and Peroxisome Crosstalk in Peroxisome Biogenesis Disorder 8A Caused by a Rare Variant in PEX16 Gene.
Wehbe M et al.
Clinical Genetics, 2025
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM13_ESM.xlsx › Sheet1
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.
Cheung A et al.
Neurogenetics, 2022
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM3_ESM.xlsx › Table_S2
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Zellweger syndrome and secondary mitochondrial myopathy.
Salpietro V et al.
European Journal of Pediatrics, 2015
Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs.
Shaheen R et al.
Clinical Genetics, 2011
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