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JAMA Dermatology|April 14, 2017
Expanding the Genotypic Spectrum of Bathing Suit IchthyosisNareh V Marukian, Rong-Hua Hu, Brittany G Craiglow, et al.Scientific Reports|December 11, 2020
Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragilityHassan Vahidnezhad, Leila Youssefian, Masoomeh Faghankhani, et al.DNA Repair|February 29, 2024
DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinityAmir Hozhabrpour, Marzieh Mojbafan, Fahimeh Palizban, et al.Journal of Inherited Metabolic Disease|August 31, 2018
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous populationTina Shirzadeh, Amir Hossein Saeidian, Hamideh Bagherian, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 3, 2024
Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participantsAmir Hossein Saeidian, Michael E March, Leila Youssefian, et al.Matrix Biology : Journal of the International Society for Matrix Biology|November 22, 2018
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 deficiencyHassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, et al.Journal of Medical Genetics|June 30, 2026
Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathyLeila Youssefian, Sajjad Biglari, Fatemeh Vahidnezhad, et al.JCI Insight|January 5, 2023
Whole transcriptome-based skin virome profiling in typical epidermodysplasia verruciformis reveals α-, β-, and γ-HPV infectionsAmir Hossein Saeidian, Leila Youssefian, Mahtab Naji, et al.JCI Insight|March 22, 2022
Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesionsAmir Hossein Saeidian, Leila Youssefian, Charles Y Huang, et al.Nature Communications|March 31, 2025
Integration of GWAS, QTLs and keratinocyte functional assays reveals molecular mechanisms of atopic dermatitisMeritxell Oliva, Mrinal K Sarkar, Michael E March, et al.Pageof 8