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 | 41 | 2017 |
NANOG prion-like assembly mediates DNA bridging to facilitate chromatin reorganization and activation of pluripotency KJ Choi, MD Quan, C Qi, JH Lee, PS Tsoi, M Zahabiyon, A Bajic, L Hu, ... Nature cell biology 24 (5), 737-747, 2022 | 19 | 2022 |
Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation A Calcagni’, L Staiano, N Zampelli, N Minopoli, NJ Herz, G Di Tullio, ... Nature Communications 14 (1), 3911, 2023 | 5 | 2023 |
A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels J Zhou, C Cattoglio, Y Shao, HP Tirumala, C Vetralla, SS Bajikar, Y Li, ... Genes & Development 37 (19-20), 883-900, 2023 | 1 | 2023 |
LB970 ABHD5, the gene associated with Chanarin-Dorfman syndrome, can contribute to non-alcoholic fatty liver disease and dyslipidemia in mutation carriers A Touati, H Vahidnezhad, L Youssefian, A Saeidian, M Zahabiyon, ... Journal of Investigative Dermatology 137 (10), B7, 2017 | | 2017 |
521 Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa M Zahabiyon, H Vahidnezhad, L Youssefian, A Saeidian, S Zeinali, ... Journal of Investigative Dermatology 137 (5), S89, 2017 | | 2017 |