RNA sequencing role and application in clinical diagnostic F Peymani, A Farzeen, H Prokisch Pediatric Investigation 6 (01), 29-35, 2022 | 16 | 2022 |
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes D Smirnov, LD Schlieben, F Peymani, R Berutti, H Prokisch Human Mutation 43 (8), 1056-1070, 2022 | 13 | 2022 |
Whole-Transcriptome Analysis Reveals Dysregulation of Actin-Cytoskeleton Pathway in Intellectual Disability Patients K InanlooRahatloo, F Peymani, K Kahrizi, H Najmabadi Neuroscience 404, 423-444, 2019 | 5 | 2019 |
Novel mutation in LARP7 in two Iranian consanguineous families with syndromic intellectual disability and facial dysmorphism G Kazemi, F Peymani, M Mohseni, FZ Ashrafi, S Arzhangi, F Ardalani, ... Archives of Iranian Medicine 23 (12), 842-847, 2020 | 3 | 2020 |
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 | 1 | 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 |
Guideline for interpretation of proteomics data as functional evidence (PS3) in the context of the ACMG/AMP sequence variant interpretation framework F Peymani, D Smirnov, R Kopajtich, R Berutti, C Ludwig, C Neuhofer, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 63-63, 2024 | | 2024 |
Novel variants identified in the rare undiagnosed families FZ Ashrafi, F Peymani, M Mohseni, S Arzhangi, MR Akbari, H Najmabadi, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 297-297, 2022 | | 2022 |
Identification the role of TUB in Intellectual Disability using RNA-seq F Peymani, K InanlooRahtloo EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 344-344, 2020 | | 2020 |
The benefits of whole exome sequencing data reanalysis in Intellectual disability Z Fattahi, M Babanejad, F Peymani, M Beheshtian, F Larti, K Kahrizi, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1392-1392, 2019 | | 2019 |