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
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
RARS1-related hypomyelinating leukodystrophy-9 (HLD-9) in two distinct Iranian families: Case report and literature review.
Biglari S et al.
Molecular Genetics & Genomic Medicine, 2024
Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).
Torii T et al.
Neurology International, 2023
RARS1-related developmental and epileptic encephalopathy.
Wan L et al.
Epilepsia Open, 2023
A holistic approach to maximise diagnostic output in trio exome sequencing.
von Hardenberg S et al.
Frontiers in Pediatrics, 2023
37274821 (PubMed )
Supplement: Datasheet1.xlsx › Table_2_VUS_variants
Distinct pathogenic mechanisms of various RARS1 mutations in Pelizaeus-Merzbacher-like disease.
Li G et al.
Science China. Life Sciences, 2021
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.
Mendes MI et al.
Annals of Clinical and Translational Neurology, 2020
Hypomyelinating leukodystrophy-associated mutation of RARS leads it to the lysosome, inhibiting oligodendroglial morphological differentiation.
Matsumoto N et al.
Biochemistry and Biophysics Reports, 2019
Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.
Nafisinia M et al.
European Journal of Human Genetics : Ejhg, 2017
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