The promise of whole-exome sequencing in medical genetics B Rabbani, M Tekin, N Mahdieh Journal of human genetics 59 (1), 5-15, 2014 | 736 | 2014 |
Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders B Rabbani, N Mahdieh, K Hosomichi, H Nakaoka, I Inoue Journal of human genetics 57 (10), 621-632, 2012 | 296 | 2012 |
An overview of mutation detection methods in genetic disorders N Mahdieh, B Rabbani Iranian journal of pediatrics 23 (4), 375, 2013 | 183 | 2013 |
Next generation sequencing: implications in personalized medicine and pharmacogenomics B Rabbani, H Nakaoka, S Akhondzadeh, M Tekin, N Mahdieh Molecular biosystems 12 (6), 1818-1830, 2016 | 131 | 2016 |
Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations N Mahdieh, B Rabbani, S Wiley, MT Akbari, S Zeinali Journal of human genetics 55 (10), 639-648, 2010 | 123 | 2010 |
Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency N Mahdieh, B Rabbani International journal of audiology 48 (6), 363-370, 2009 | 115 | 2009 |
Vitamin D insufficiency among children and adolescents living in Tehran, Iran A Rabbani, SM Alavian, ME Motlagh, MTH Ashtiani, G Ardalan, A Salavati, ... Journal of tropical pediatrics 55 (3), 189-191, 2009 | 99 | 2009 |
Beta thalassemia in 31,734 cases with HBB gene mutations: pathogenic and structural analysis of the common mutations; Iran as the crossroads of the Middle East N Mahdieh, B Rabbani Blood reviews 30 (6), 493-508, 2016 | 52 | 2016 |
Screening of OTOF mutations in Iran: a novel mutation and review N Mahdieh, A Shirkavand, B Rabbani, M Tekin, B Akbari, MT Akbari, ... International journal of pediatric otorhinolaryngology 76 (11), 1610-1615, 2012 | 43 | 2012 |
Molecular diagnosis of congenital adrenal hyperplasia in Iran: focusing on CYP21A2 gene B Rabbani, N Mahdieh, MTH Ashtiani, MT Akbari, A Rabbani Iranian journal of pediatrics 21 (2), 139, 2011 | 39 | 2011 |
Impact of consanguineous marriages in GJB2-related hearing loss in the Iranian population: a report of a novel variant N Mahdieh, B Rabbani, A Shirkavand, H Bagherian, ZS Movahed, ... Genetic testing and molecular biomarkers 15 (7-8), 489-493, 2011 | 37 | 2011 |
Mutation Analysis of the CYP21A2 Gene in the Iranian Population B Rabbani, N Mahdieh, MTH Ashtiani, B Larijani, MT Akbari, M New, ... Genetic Testing and Molecular Biomarkers 16 (2), 82-90, 2012 | 36 | 2012 |
In silico structural, functional and pathogenicity evaluation of a novel mutation: an overview of HSD3B2 gene mutations B Rabbani, N Mahdieh, MTH Ashtiani, A Setoodeh, A Rabbani Gene 503 (2), 215-221, 2012 | 32 | 2012 |
Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants N Mahdieh, M Soveizi, AR Tavasoli, A Rabbani, MR Ashrafi, ... Scientific reports 11 (1), 3231, 2021 | 23 | 2021 |
The frequency of HBB mutations among β-thalassemia patients in Hamadan Province, Iran M Jalilian, F Azizi Jalilian, L Ahmadi, R Amini, H Esfehani, M Sosanian, ... Hemoglobin 41 (1), 61-64, 2017 | 22 | 2017 |
A novel single step double positive double negative selection strategy for β-globin gene replacement H Khanahmad, MRN Daloii, MA Shokrgozar, K Azadmanesh, ... Biochemical and biophysical research communications 345 (1), 14-20, 2006 | 18 | 2006 |
HLA‐DRB,‐DQA, and DQB alleles and haplotypes in Iranian patients with diabetes mellitus type I A Rabbani, F Abbasi, M Taghvaei, B Rabbani, B Moradi, Y Shakiba, ... Pediatric diabetes 14 (5), 366-371, 2013 | 17 | 2013 |
Novel cases of pediatric sudden cardiac death secondary to TRDN mutations presenting as long QT syndrome at rest and catecholaminergic polymorphic ventricular … B Rabbani, M Khorgami, M Dalili, N Zamani, N Mahdieh, MH Gollob American Journal of Medical Genetics Part A 185 (11), 3433-3445, 2021 | 13 | 2021 |
A systematic review of LDLR, PCSK9, and APOB variants in Asia N Mahdieh, K Heshmatzad, B Rabbani Atherosclerosis 305, 50-57, 2020 | 11 | 2020 |
The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants K Heshmatzad, N Mahdieh, A Rabbani, A Didban, B Rabbani International journal of endocrinology 2020 (1), 2190508, 2020 | 11 | 2020 |