selected publications academic article A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis 2015-10-1 Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology 2013-6-3 letter A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in the KRT1 gene. 456-458. 2013-2-1