Andrew Touati

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency

Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian et al. · Matrix Biology · 2018 · 63 citations · Full text

Mendelian Disorder, Genetic Disorder, Lysyl Hydroxylase 3 +5

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy

Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian et al. · Matrix Biology · 2017 · 57 citations · Full text

Autoimmune Disease, Medicine, Immunology +6

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families

Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian et al. · Human Mutation · 2018 · 53 citations

Genetics, Genetic Epidemiology, Pathology +18

Regulation of proinflammatory genes by the circulating microRNA hsa-miR-939

Marguerite K. McDonald, Sujay Ramanathan, Andrew Touati et al. · Scientific Reports · 2016 · 47 citations · Full text

Inflammation, Beneficial Biomarkers, Inflammatory Disease +15

Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications

Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian et al. · Journal of Investigative Dermatology · 2017 · 43 citations · Full text

Molecular Diagnostic Techniques, Unknown Subtype, Medicine +12