| TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor A Kariminejad, M Dahl-Halvarsson, G Ravenscroft, F Afroozan, ... Brain 140 (11), 2851-2859, 2017 | 45 | 2017 |
| Whole genome linkage analysis followed by whole exome sequencing identifies nicastrin (NCSTN) as a causative gene in a multiplex family with γ-secretase spectrum of … MF Zonooz, F Sabbagh-Kermani, Z Fattahi, M Fadaee, MR Akbari, R Amiri, ... The Journal of investigative dermatology 136 (6), 1283-1286, 2016 | 19 | 2016 |
| SZT2 mutation in a boy with intellectual disability, seizures and autistic features A Kariminejad, H Yazdan, E Rahimian, Z Kalhor, Z Fattahi, MF Zonooz, ... European Journal of Medical Genetics 62 (9), 103556, 2019 | 13 | 2019 |
| Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants A Kariminejad, H Vahidnezhad, S Ghaderi‐Sohi, AR Ghannadan, ... American Journal of Medical Genetics Part A 179 (8), 1547-1555, 2019 | 8 | 2019 |
| Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families M Beheshtian, Z Fattahi, M Fadaee, R Vazehan, P Jamali, E Parsimehr, ... Clinical Genetics 95 (6), 718-725, 2019 | 7 | 2019 |
| Brief report of variants detected in hereditary hearing loss cases in Iran over a 3-year period N Bazazzadegan, R Vazehan, M Fadaee, Z Fattahi, A Abolhassani, ... Iranian journal of public health 48 (10), 1910, 2019 | 5 | 2019 |
| CEP104 and CEP290; Genes with ciliary functions cause intellectual disability in multiple families S Khoshbakht, M Beheshtian, Z Fattahi, N Bazazzadegan, E Parsimehr, ... Archives of Iranian Medicine 24 (5), 364-373, 2021 | 4 | 2021 |
| A GLI3 variant leading to polydactyly in heterozygotes and Pallister‐Hall‐like syndrome in a homozygote A Kariminejad, S Ghaderi‐Sohi, E Keshavarz, SA Hashemi, E Parsimehr, ... Clinical genetics 97 (6), 915-919, 2020 | 4 | 2020 |
| De novo mutation in CACNA1S gene in a 20-year-old man diagnosed with metabolic myopathy M Edizadeh, R Vazehan, F Javadi, S Dehdahsi, M Fadaee, MF Zonooz, ... Archives of Iranian Medicine 20 (9), -, 2017 | 4 | 2017 |
| Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population A Abolhassani, Z Fattahi, M Beheshtian, M Fadaee, R Vazehan, ... NPJ Genomic Medicine 9 (1), 12, 2024 | | 2024 |
| P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders A Abolhassani, Z Fattahi, M Beheshtian, M Fadaee, R Vazehan, ... Genetics in Medicine Open 2, 2024 | | 2024 |
| Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability N Ehtesham, M Mosallaei, M Beheshtian, S Khoshbakht, M Fadaee, ... Archives of Iranian medicine 25 (12), 788, 2022 | | 2022 |
| Clinical application of next generation sequencing for the diagnosis of Mendelian disorders in a highly consanguineous population: results from more than 1400 Iranian patients The American Society of Human Genetics (ASHG) 2022 Annual Meeting, 2022 | | 2022 |
| Identification of CAPN3 gene novel variations in Iranian LGMD patients M Fadaee, Z Fattahi, R Vazehan, F Ahangari, A Abolhassani, Z Kalhor, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1480-1481, 2019 | | 2019 |
| 159 PASH syndrome is not a genetically distinct entity but belongs to the spectrum of autoinflammatory skin phenotypes J Uitto, MF Zonooz, F Sabbagh-Kermani, Z Fattahi, M Fadaee, MR Akbari, ... Journal of Investigative Dermatology 136 (9), S188, 2016 | | 2016 |
