The human CIB1–EVER1–EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses SJ De Jong, A Créquer, I Matos, D Hum, V Gunasekharan, L Lorenzo, ... Journal of Experimental Medicine 215 (9), 2289-2310, 2018 | 132 | 2018 |
Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone C Has, A Nyström, AH Saeidian, L Bruckner-Tuderman, J Uitto Matrix Biology 71, 313-329, 2018 | 128 | 2018 |
Research techniques made simple: whole-transcriptome sequencing by RNA-Seq for diagnosis of monogenic disorders AH Saeidian, L Youssefian, H Vahidnezhad, J Uitto Journal of investigative dermatology 140 (6), 1117-1126. e1, 2020 | 88 | 2020 |
Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy V Béziat, F Rapaport, J Hu, M Titeux, MB Des Claustres, M Bourgey, ... Cell 184 (14), 3812-3828. e30, 2021 | 82 | 2021 |
Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy H Vahidnezhad, L Youssefian, AH Saeidian, H Mahmoudi, A Touati, ... Matrix Biology 66, 22-33, 2018 | 71 | 2018 |
Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis JK Simpson, M Martinez‐Queipo, A Onoufriadis, S Tso, E Glass, L Liu, ... British Journal of Dermatology 182 (3), 729-737, 2020 | 70 | 2020 |
Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families L Youssefian, H Vahidnezhad, AH Saeidian, A Touati, S Sotoudeh, ... Human mutation 40 (3), 288-298, 2019 | 66 | 2019 |
Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with … H Vahidnezhad, L Youssefian, AH Saeidian, A Touati, S Pajouhanfar, ... Matrix Biology 81, 91-106, 2019 | 64* | 2019 |
Dystrophic epidermolysis bullosa: COL7A1 mutation landscape in a multi-ethnic cohort of 152 extended families with high degree of customary consanguineous marriages H Vahidnezhad, L Youssefian, S Zeinali, AH Saeidian, S Sotoudeh, ... Journal of Investigative Dermatology 137 (3), 660-669, 2017 | 61 | 2017 |
Phenotypic spectrum of epidermolysis bullosa: the paradigm of syndromic versus non-syndromic skin fragility disorders H Vahidnezhad, L Youssefian, AH Saeidian, J Uitto Journal of Investigative Dermatology 139 (3), 522-527, 2019 | 55 | 2019 |
Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations L Youssefian, H Vahidnezhad, AH Saeidian, S Pajouhanfar, S Sotoudeh, ... Journal of hepatology 71 (2), 366-370, 2019 | 51 | 2019 |
Multigene next-generation sequencing panel identifies pathogenic variants in patients with unknown subtype of epidermolysis bullosa: subclassification with prognostic implications H Vahidnezhad, L Youssefian, AH Saeidian, A Touati, S Sotoudeh, ... Journal of Investigative Dermatology 137 (12), 2649-2652, 2017 | 44 | 2017 |
Gene-targeted next generation sequencing identifies PNPLA1 mutations in patients with a phenotypic spectrum of autosomal recessive congenital ichthyosis: the impact of … H Vahidnezhad, L Youssefian, AH Saeidian, S Zeinali, P Mansouri, ... Journal of Investigative Dermatology 137 (3), 678-685, 2017 | 40 | 2017 |
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population T Shirzadeh, AH Saeidian, H Bagherian, S Salehpour, A Setoodeh, ... Journal of inherited metabolic disease 41, 1159-1167, 2018 | 39 | 2018 |
Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and … H Vahidnezhad, L Youssefian, AH Saeidian, A Touati, S Sotoudeh, ... Human mutation 39 (10), 1349-1354, 2018 | 39 | 2018 |
Microarray to deep sequencing: transcriptome and miRNA profiling to elucidate molecular pathways in systemic lupus erythematosus G Rai, R Rai, AH Saeidian, M Rai Immunologic research 64, 14-24, 2016 | 34 | 2016 |
Inherited interleukin 2–inducible T-cell (ITK) kinase deficiency in siblings with epidermodysplasia verruciformis and Hodgkin lymphoma L Youssefian, H Vahidnezhad, M Yousefi, AH Saeidian, A Azizpour, ... Clinical Infectious Diseases 68 (11), 1938-1941, 2019 | 31 | 2019 |
Molecular genetics of keratinization disorders–What’s new about ichthyosis J Uitto, L Youssefian, AH Saeidian, H Vahidnezhad Acta Dermato-Venereologica 100 (7), 5691, 2020 | 30 | 2020 |
Genome‐wide single nucleotide polymorphism‐based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa H Vahidnezhad, L Youssefian, AH Saeidian, S Zeinali, A Touati, M Abiri, ... Experimental Dermatology 28 (10), 1118-1121, 2019 | 29 | 2019 |
Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes L Youssefian, H Vahidnezhad, AH Saeidian, S Sotoudeh, H Mahmoudi, ... European Journal of Human Genetics 25 (11), 1282-1285, 2017 | 27 | 2017 |