| 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 |
| 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 | 56 | 2017 |
| Replication of TCF7L2 rs7903146 association with type 2 diabetes in an Iranian population MM Amoli, P Amiri, J Tavakkoly-Bazzaz, E Charmchi, J Hafeziyeh, ... Genetics and Molecular Biology 33, 449-451, 2010 | 44 | 2010 |
| 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 |
| 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 | 38 | 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 | 36 | 2018 |
| 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 |
| In silico analysis of novel mutations in maple syrup urine disease patients from Iran M Abiri, R Karamzadeh, M Mojbafan, MR Alaei, A Jodaki, M Safi, ... Metabolic brain disease 32, 105-113, 2017 | 20 | 2017 |
| Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations M Abiri, H Saei, M Eghbali, R Karamzadeh, T Shirzadeh, Z Sharifi, ... Metabolic Brain Disease 34, 1145-1156, 2019 | 16 | 2019 |
| Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene. L Youssefian, H Vahidnezhad, Y Aghighi, V Ziaee, S Zeinali, M Abiri, ... | 13 | 2017 |
| Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations F Zafarghandi Motlagh, MS Fallah, H Bagherian, T Shirzadeh, S Ghasri, ... Orphanet journal of rare diseases 14, 1-8, 2019 | 12 | 2019 |
| Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity M Abiri, S Talebi, J Uitto, L Youssefian, H Vahidnezhad, T Shirzad, ... Journal of pediatric endocrinology and metabolism 29 (10), 1215-1219, 2016 | 12 | 2016 |
| Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis M Abiri, R Karamzadeh, M Karimipoor, S Ghadami, MR Alaei, SD Bagheri, ... Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 786, 34-40, 2016 | 12 | 2016 |
| Comprehensive mutation analysis and report of 12 novel mutations in a cohort of patients with spinal muscular atrophy in Iran Z Sharifi, M Taheri, MS Fallah, M Abiri, F Golnabi, H Bagherian, R Zeinali, ... Journal of Molecular Neuroscience, 1-18, 2021 | 11 | 2021 |
| Development and validation of a novel panel of 16 STR markers for simultaneous diagnosis of β-thalassemia, aneuploidy screening, maternal cell contamination detection and fetal … Z Sharifi, F Rahiminejad, A Joudaki, AS Bandehi, H Farahzadi, Y Keshvar, ... Scientific reports 9 (1), 7452, 2019 | 11 | 2019 |
| Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent Mutations H Foroozani, M Abiri, S Salehpour, H Bagherian, Z Sharifi, MR Alaei, ... JIMD Reports, Volume 21, 123-128, 2015 | 10 | 2015 |
| Comprehensive transcriptome mining identified the gene expression signature and differentially regulated pathways of the late-onset preeclampsia H Saei, A Govahi, A Abiri, M Eghbali, M Abiri Pregnancy Hypertension 25, 91-102, 2021 | 9 | 2021 |
| Whole-exome sequencing uncovers novel causative variants and additional findings in three patients affected by glycogen storage disease type VI and Fanconi− Bickel syndrome M Eghbali, KS Fatemi, S Salehpour, M Abiri, H Saei, S Talebi, NA Olyaei, ... Frontiers in Genetics 11, 601566, 2021 | 9 | 2021 |
| Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b) M Eghbali, M Abiri, S Talebi, Z Noroozi, M Shakiba, P Rostami, ... Orphanet Journal of Rare Diseases 15, 1-11, 2020 | 8 | 2020 |
| Genetic testing of Mucopolysaccharidoses disease using multiplex PCR-based panels of STR markers: in silico analysis of novel mutations M Shafaat, M Hashemi, A Majd, M Abiri, S Zeinali Metabolic Brain Disease 34, 1447-1455, 2019 | 8 | 2019 |
