Associated Papers
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.
Wertheim-Tysarowska K et al.
Journal of Applied Genetics, 2016
Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach.
Ołdak M et al.
Journal of Dermatological Science, 2010
Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.
Rugg EL et al.
The Journal of Investigative Dermatology, 2007
Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland.
Hamada T et al.
Archives of Dermatological Research, 2005
Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.
Csikós M et al.
Experimental Dermatology, 2004
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