Associated Papers
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1
Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease.
Duan R et al.
Orphanet Journal of Rare Diseases, 2022
15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms.
Hornbeck PV et al.
Nucleic Acids Research, 2019
30445427 (PubMed )
Supplement: gky1159_supplemental_files.xlsx › SupplT1
Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS.
Tantzer S et al.
Molecular Therapy. Nucleic Acids, 2018
30195779 (PubMed )
Supplement: mmc1.pdf
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
Ji H et al.
Plos One, 2018
29451896 (PubMed )
Supplement: pone.0188869.s005.xlsx › _S5_Table
Transcriptional mutagenesis reduces splicing fidelity in mammalian cells.
Paredes JA et al.
Nucleic Acids Research, 2017
A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease.
Lu Y et al.
Human Genome Variation, 2017
28101371 (PubMed )
Supplement: hgv201644-s1.doc
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_9._Validated_Variantsv2.xlsx › Supplementary_Table_9
Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes.
Hobson GM et al.
Human Mutation, 2006
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