| Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome BL Latour, JC Van De Weghe, TDS Rusterholz, SJF Letteboer, A Gomez, ... The Journal of clinical investigation 130 (8), 4423-4439, 2020 | 53 | 2020 |
| Next-generation sequencing identified novel truncating mutations in BBS9 causing Bardet Biedl syndrome in two Iranian consanguineous families S Akbaroghli, D Kooshavar, Z Golchehre, A Karamzade, M Saberi, ... Iranian Journal of Child Neurology 16 (1), 123, 2022 | 2 | 2022 |
| Whole-exome sequencing identified a novel variant (C. 405_422+ 39del) in DSP gene in an iranian pedigree with familial dilated cardiomyopathy Y Eshaghkhani, A Mohamadifar, M Asadollahi, M Taghizadeh, ... Reports of biochemistry & molecular biology 10 (2), 280, 2021 | 2 | 2021 |
| A novel mutation in the OXCT1 gene causing Succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency starting with neurologic manifestations D Amirkashani, M Asadollahi, R Hosseini, S Talebi, Z Golchehre, ... Iranian Journal of Child Neurology 17 (2), 127, 2023 | 1 | 2023 |
| A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literature PNMA , Arezou Karamzade, Yeganeh Eshaghkhani, Meisam Babaei, Zahra Golchehre ... Journal of Genetics 102 (2), 39, 2023 | | 2023 |
| Novel compound heterozygous variants (Leu861Pro /Ile228Serfs*7) in NPHS1 gene detected in monozygotic twin sisters with congenital nephrotic syndrome MK ,Yeganeh Eshaghkhani, Arezou Karamzade, Mostafa Asadollahi, Reyhaneh ... European Journal of Human Genetics, 2023 | | 2023 |
| Genetic analysis of 309 Iranian patients with muscular dystrophy and congenital myopathy by next generation sequencing MA , Arezou Karamzade, Mahdieh Taghizadeh, Zahra Golchehre, Parisa ... European Journal of Human Genetics 28, 2020 | | 2020 |
