Associated Papers
Exome analyses unravel the genetic architecture of Mendelian dominant nonsyndromic orofacial clefts.
Zuo Y et al.
Genomics, 2025
Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays.
Chen F et al.
Npj Genomic Medicine, 2025
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Hany U et al.
Journal of Medical Genetics, 2024
37979963 (PubMed )
Supplement: jmg-2023-109510supp001.pdf
A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa.
Hoffmann J et al.
Acta Dermato-venereologica, 2019
The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.
Has C et al.
Acta Dermato-venereologica, 2018
Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine.
Condrat I et al.
Frontiers in Medicine, 2018
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.
Kiritsi D et al.
Journal of Medical Genetics, 2011
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