Associated Papers
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
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Supplement: mmc4.xlsx › Sheet1
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene.
Clabbers JMK et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023
In silico analysis of the profilaggrin sequence indicates alterations in the stability, degradation route, and intracellular protein fate in filaggrin null mutation carriers.
Paul AA et al.
Frontiers in Molecular Biosciences, 2023
37200867 (PubMed )
Supplement: Table1.DOCX
Filaggrin sequencing and bioinformatics tools.
Margolis DJ et al.
Archives of Dermatological Research, 2020
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