Associated Papers
Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.
Kulsirichawaroj P et al.
Pediatric Research, 2025
40494860 (PubMed )
Supplement: 41390_2025_4160_MOESM3_ESM.pdf
Long-read single-cell RNA sequencing enables the study of cancer subclone-specific genotypes and phenotypes in chronic lymphocytic leukemia.
Black GS et al.
Genome Research, 2025
39965935 (PubMed )
Supplement: Supplemental_Table_S4.xlsx › Sheet1
Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex.
Lupo V et al.
European Journal of Neurology, 2020
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
Laššuthová P et al.
Orphanet Journal of Rare Diseases, 2016
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