Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › SPK14_het
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 2022
36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1
Reply: Segregation of ATP10B variants in families with autosomal recessive Parkinsonism.
Smolders S et al.
Acta Neuropathologica, 2020
Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.
Martin S et al.
Acta Neuropathologica, 2020
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