| Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery EM Scott, A Halees, Y Itan, EG Spencer, Y He, MA Azab, SB Gabriel, ... Nature genetics 48 (9), 1071-1076, 2016 | 343 | 2016 |
| Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go T Dangouloff, E Vrščaj, L Servais, D Osredkar, T Adoukonou, O Aryani, ... Neuromuscular Disorders 31 (6), 574-582, 2021 | 134 | 2021 |
| Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type T Van Damme, A Colige, D Syx, C Giunta, U Lindert, M Rohrbach, ... Genetics in Medicine 18 (9), 882-891, 2016 | 48 | 2016 |
| Two Novel Tyrosinase (TYR) Gene Mutations with Pathogenic Impact on Oculocutaneous Albinism Type 1 (OCA1) V Ghodsinejad Kalahroudi, B Kamalidehghan, A Arasteh Kani, O Aryani, ... PloS one 9 (9), e106656, 2014 | 42 | 2014 |
| Gene expression profiling of mitochondrial oxidative phosphorylation (OXPHOS) complex I in Friedreich ataxia (FRDA) patients MH Salehi, B Kamalidehghan, M Houshmand, G Yong Meng, ... PloS one 9 (4), e94069, 2014 | 40 | 2014 |
| Association of fibroblast growth factor (FGF-21) as a biomarker with primary mitochondrial disorders, but not with secondary mitochondrial disorders (Friedreich Ataxia) MH Salehi, B Kamalidehghan, M Houshmand, O Aryani, M Sadeghizadeh, ... Molecular biology reports 40, 6495-6499, 2013 | 32 | 2013 |
| Secondary headaches attributed to arterial hypertension F Assarzadegan, M Asadollahi, O Hesami, O Aryani, B Mansouri Iranian Journal of Neurology 12 (3), 106, 2013 | 31 | 2013 |
| Effects of miglustat on stabilization of neurological disorder in Niemann–Pick disease type C: Iranian pediatric case series P Karimzadeh, SH Tonekaboni, MR Ashrafi, Y Shafeghati, A Rezayi, ... Journal of Child Neurology 28 (12), 1599-1606, 2013 | 30 | 2013 |
| Investigation of the mitochondrial ATPase 6/8 and tRNALys genes mutations in autism F Piryaei, M Houshmand, O Aryani, S Dadgar, ZS Soheili Cell Journal (Yakhteh) 14 (2), 98, 2012 | 27 | 2012 |
| WISP3 mutation associated with pseudorheumatoid dysplasia MR Sailani, J Chappell, I Jingga, A Narasimha, A Zia, JL Lynch, ... Molecular Case Studies 4 (1), a001990, 2018 | 22 | 2018 |
| Alexander disease: report of two unrelated infantile form cases, identified by GFAP mutation analysis and review of literature; the first report from Iran MR Ashrafi, A Tavasoli, O Aryani, H Alizadeh, M Houshmand Iranian Journal of Pediatrics 23 (4), 481, 2013 | 17 | 2013 |
| Novel mutations in Sandhoff disease: a molecular analysis among Iranian cohort of infantile patients H Aryan, O Aryani, K Banihashemi, T Zaman, M Houshmand Iranian journal of public health 41 (3), 112, 2012 | 15 | 2012 |
| Recurrence of primary hyperoxaluria after kidney transplantation T Malakoutian, M Asgari, M Houshmand, R Mohammadi, O Aryani, ... IRANIAN JOURNAL OF KIDNEY DISEASES (IJKD) 5 (6), 429-433, 2011 | 15 | 2011 |
| Four Novel p.N385K, p.V36A, c.1033–1034insT and c.1417–1418delCT Mutations in the Sphingomyelin Phosphodiesterase 1 (SMPD1) Gene in Patients with … MD Manshadi, B Kamalidehghan, F Keshavarzi, O Aryani, S Dadgar, ... International journal of molecular sciences 16 (4), 6668-6676, 2015 | 13 | 2015 |
| Fifteen novel mutations in the mitochondrial NADH dehydrogenase subunit 1, 2, 3, 4, 4L, 5 and 6 genes from Iranian patients with Leber’s hereditary optic neuropathy (LHON) Z Rezvani, E Didari, A Arastehkani, V Ghodsinejad, O Aryani, ... Molecular biology reports 40, 6837-6841, 2013 | 13 | 2013 |
| Late‐onset pompe disease in Iran: A clinical and genetic report F Nazari, F Sinaei, Y Nilipour, F Fatehi, B Streubel, MR Ashrafi, O Aryani, ... Muscle & Nerve 55 (6), 835-840, 2017 | 12 | 2017 |
| Three novel mutations in Iranian patients with Tay-Sachs disease S Jamali, N Eskandari, O Aryani, S Salehpour, T Zaman, ... Iranian biomedical journal 18 (2), 114, 2014 | 12 | 2014 |
| Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations M Dehghan Manshadi, B Kamalidehghan, O Aryani, E Khalili, S Dadgar, ... Therapeutics and clinical risk management, 725-731, 2017 | 10 | 2017 |
| Detection of Intragenic SMN1 Mutations in Spinal Muscular Atrophy Patients With a Single Copy of SMN1 H Ganji, N Nouri, M Salehi, O Aryani, M Houshmand, K Basiri, ... Journal of Child Neurology 30 (5), 558-562, 2015 | 10 | 2015 |
| Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum M Buelow, D Süßmuth, LD Smith, O Aryani, C Castiglioni, W Stenzel, ... European Journal of Human Genetics 29 (7), 1121-1128, 2021 | 9 | 2021 |
seyed hassan tonekaboniprofessor of pediatrics in shahid beheshti medical university ( SBMU)Verified email at sbmu.ac.ir
