Associated Papers
Whole-Exome Sequencing Reveals Novel Candidate Driver Mutations and Potential Druggable Mutations in Patients with High-Risk Neuroblastoma.
Nokchan N et al.
Journal of Personalized Medicine, 2024
39338204 (PubMed )
Supplement: jpm-14-00950-s001.zip › Supplementary_Table_S2.xlsx › Supplementary_Table_S2.
Influence of pathogenic filaggrin variants on dupilumab treatment in atopic dermatitis.
Clabbers J et al.
The Journal of Allergy and Clinical Immunology, 2024
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
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
Germline Variants in Cancer Genes from Young Breast Cancer Mexican Patients.
Gómez-Flores-Ramos L et al.
Cancers, 2022
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Filaggrin mutations and Molluscum contagiosum skin infection in patients with atopic dermatitis.
Manti S et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2017
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