| PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment M Zollo, M Ahmed, V Ferrucci, V Salpietro, F Asadzadeh, M Carotenuto, ... Brain 140 (4), 940-952, 2017 | 73 | 2017 |
| Genetic, phenotypic, and interferon biomarker status in ADAR1-related neurological disease GI Rice, N Kitabayashi, M Barth, TA Briggs, ACE Burton, ML Carpanelli, ... Neuropediatrics 48 (03), 166-184, 2017 | 69 | 2017 |
| Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases E Perenthaler, A Nikoncuk, S Yousefi, WM Berdowski, M Alsagob, I Capo, ... Acta Neuropathologica 139, 415-442, 2020 | 49 | 2020 |
| Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants C Neuray, R Maroofian, M Scala, T Sultan, GS Pai, M Mojarrad, ... Brain 143 (8), 2388-2397, 2020 | 31 | 2020 |
| The worldwide frequency of MYO15A gene mutations in patients with non-syndromic hearing loss: A meta-analysis M Farjami, R Assadi, FA Javan, M Alimardani, S Eslami, SM Derakhshan, ... Iranian Journal of Basic Medical Sciences 23 (7), 841, 2020 | 14 | 2020 |
| NR1H4‐related Progressive Familial Intrahepatic Cholestasis 5: Further Evidence for Rapidly Progressive Liver Failure RW Himes, M Mojarrad, A Eslahi, MJ Finegold, R Maroofian, DD Moore Journal of Pediatric Gastroenterology and Nutrition 70 (6), e111-e113, 2020 | 14 | 2020 |
| A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome SG Ghosh, M Scala, C Beetz, G Helman, V Stanley, X Yang, MW Breuss, ... European Journal of Human Genetics 29 (2), 271-279, 2021 | 12 | 2021 |
| TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes JC Van De Weghe, JL Giordano, IB Mathijssen, M Mojarrad, ... Human Genetics and Genomics Advances 2 (1), 2021 | 11 | 2021 |
| Investigating the association of Lamotrigine and Phenytoin‐induced Stevens‐Johnson syndrome/Toxic Epidermal Necrolysis with HLA‐B* 1502 in Iranian population S Sabourirad, R Mortezaee, M Mojarad, A Eslahi, Y Shahrokhi, B Kiafar, ... Experimental Dermatology 30 (2), 284-287, 2021 | 10 | 2021 |
| Targeted mutation analysis of the SLC26A4, MYO6, PJVK and CDH23 genes in Iranian patients with AR nonsyndromic hearing loss M Alimardani, SM Hosseini, MS Khaniani, MR Haghi, A Eslahi, M Farjami, ... Fetal and Pediatric Pathology 38 (2), 93-102, 2019 | 9 | 2019 |
| PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran RJ Esfehani, A Eslahi, MB Toosi, A Sadr-Nabavi, MA Kerachian, ... Iranian Journal of Basic Medical Sciences 24 (9), 1190, 2021 | 5 | 2021 |
| MicroRNA-124 overexpression in associated with lymph node metastasis in breast cancer A Eslahi, A Tabatabaee, M Mojarrad Cancer Press Journal 2 (3), 51-54, 2016 | 5 | 2016 |
| New advancements in CRISPR based gene therapy of Duchenne muscular dystrophy A Eslahi, F Alizadeh, A Avan, GA Ferns, M Moghbeli, MR Abbaszadegan, ... Gene, 147358, 2023 | 4 | 2023 |
| G-CSF augments the neuroprotective effect of conditioned medium of dental pulp stem cells against hypoxic neural injury in SH-SY5Y cells F Ahmadi, Z Salmasi, M Mojarad, A Eslahi, Z Tayarani-Najaran Iranian Journal of Basic Medical Sciences 24 (12), 1743, 2021 | 4 | 2021 |
| TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia MSA Mohajeri, A Eslahi, Z Khazaii, MR Moradi, R Pazhoomand, ... Human Genomics 15, 1-5, 2021 | 4 | 2021 |
| Investigation of MYO15A and MYO7A mutations in Iranian patients with nonsyndromic hearing loss M Farjami, M Fathi, MM Ghasemi, M Rajati, A Eslahi, M Alimardani, ... Fetal and pediatric pathology 40 (2), 121-130, 2021 | 4 | 2021 |
| Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals HL Sczakiel, M Zhao, B Wollert-Wulf, M Danyel, N Ehmke, C Stoltenburg, ... European Journal of Human Genetics 31 (8), 905-917, 2023 | 2 | 2023 |
| Production of Duchenne muscular dystrophy cellular model using CRISPR-Cas9 exon deletion strategy F Alizadeh, YJ Abraghan, S Farrokhi, Y Yousefi, Y Mirahmadi, A Eslahi, ... Molecular and Cellular Biochemistry, 1-14, 2023 | 2 | 2023 |
| Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies A Accogli, MS Zaki, M Al-Owain, MY Otaif, A Jackson, E Argilli, ... Brain Communications 5 (5), fcad222, 2023 | 2 | 2023 |
| The Frequency of Congenital Heart Disorders among Children Issued from Consanguineous Marriages in Khorasan Province, Northeast of Iran H Motaghi Moghadam, A Eslahi, Z Jafari, S Shahidi, M Keyvanlou, ... International Biological and Biomedical Journal 1 (3), 98-102, 2015 | 2 | 2015 |
majid mojarradDepartment of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, MashhadVerified email at mums.ac.ir
