| Circulating exosomal miRNAs in cardiovascular disease pathogenesis: New emerging hopes AS Aghabozorgi, N Ahangari, TE Eftekhaari, PN Torbati, A Bahiraee, ... Journal of cellular physiology 234 (12), 21796-21809, 2019 | 55 | 2019 |
| PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy Annals of Clinical and Translational Neurology, 2022 | 15 | 2022 |
| A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8 I Van Gucht, JAN Meester, JR Bento, M Bastiaansen, J Bastianen, ... The American Journal of Human Genetics 108 (6), 1115-1125, 2021 | 15 | 2021 |
| Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism N Keller, N Mendoza-Ferreira, R Maroofian, V Chelban, Y Khalil, PB Mills, ... Neuromuscular Disorders 30 (7), 583-589, 2020 | 9 | 2020 |
| Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and … EF Whittle, M Chilian, EG Karimiani, H Progri, D Buhas, M Kose, ... Genetics in Medicine 25 (2), 100332, 2023 | 5 | 2023 |
| TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition American Journal of Medical Genetics Part A, 2022 | 5 | 2022 |
| The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders A Saffari, T Lau, H Tajsharghi, EG Karimiani, A Kariminejad, S Efthymiou, ... Brain 146 (8), 3273-3288, 2023 | 4 | 2023 |
| High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases Frontiers in Pediatrics, Sec. Pediatric Nephrology, 2022 | 4 | 2022 |
| Genetic Insights from Consanguineous Cardiomyopathy Families Genes, 2023 | 3 | 2023 |
| ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study AHM Najmeh Ahangari, Nazanin Gholampour-Faroji, Mohammad Doosti, Majid ... Molecular Genetics & Genomic Medicine, 2023 | 2 | 2023 |
| Chloride Channel Mutations Leading to Congenital Myotonia EGK Amir Nik, Najmeh Ahangari, Paria Najarzadeh Torbati, Reza Boostani Cureus, 2022 | 2 | 2022 |
| Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder E Medico Salsench, R Maroofian, R Deng, K Lanko, A Nikoncuk, B Pérez, ... Brain 144 (10), e85-e85, 2021 | 2 | 2021 |
| Expanding the Clinical and Genetic Spectrum of RAB3GAP1-Related Disorders with Novel Movement Disorders ML Wiese, A Saffari, R Kaiyrzhanov, PN Torbati, EG Karimiani, M Zamani, ... Neuropediatrics 54 (S 01), A-236, 2023 | | 2023 |
| Diagnosis of Different Types of Early Infantile Epileptic Encephalopathies with Whole Exome Sequencing: A Three-Year Cohort Study PN Torbati, E Ghayoor, M Doosti, N Ahangari, F Ashrafzadeh, MB Toosi, ... Authorea Preprints, 2023 | | 2023 |
| Limb-girdle muscular dystrophy type 2B (LGMD2B) caused by pathogenic splice and missense variants of DYSF gene among Iranians with muscular dystrophy F Arab, N Ahangari, H Malek, M Doosti, PN Torbati, EG Karimiani Advanced Biomedical Research 12 (1), 150, 2023 | | 2023 |
| TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition (vol 188A, pg 2652, 2022) L Musante, F Faletra, K Meier, H Tomoum, PN Torbati, E Blair, S North, ... AMERICAN JOURNAL OF MEDICAL GENETICS PART A 191 (3), 910-910, 2023 | | 2023 |
| Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and … EFWGDGMBTPNTRSZMP HeeYoon2 Genetics in medicine, https://doi.org/10.1016/j.gim.2022.11.001, 2022 | | 2022 |
| Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy E Banks, V Francis, SJ Lin, F Kharfallah, V Fonov, M Levesque, C Han, ... medRxiv, 2022.08. 23.22278845, 2022 | | 2022 |
| Biallelic pathogenic variants in COL9A3 confirm autosomal recessive stickler syndrome A Rad, M Najafi, F Suri, S Loum, EG Karimiani, D Murphy, M Doosti, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 139-139, 2022 | | 2022 |
| Collagen VI-Related Myopathies: Genetic and Clinical Findings EGK Samaneh Maskani , Najmeh Ahangari , Mohammad Doosti , Reza Boostani ... PRECISION MEDICINE AND CLINICAL OMICS, 2021 | | 2021 |
Ehsan Ghayoor KarimianiConsultant Medical Geneticist, Hon. Lecturer at St George's, University of London.Verified email at sgul.ac.uk
