| Identification of direct target genes of miR-7, miR-9, miR-96, and miR-182 in the human breast cancer cell lines MCF-7 and MDA-MB-231 H Moazzeni, A Najafi, M Khani Molecular and cellular probes 34, 45-52, 2017 | 47 | 2017 |
| Challenge accepted: uncovering the role of rare genetic variants in Alzheimer’s disease M Khani, E Gibbons, J Bras, R Guerreiro Molecular neurodegeneration 17, 1-15, 2022 | 43 | 2022 |
| Observation of nine previously reported and 10 non-reported SLC4A11 mutations among 20 Iranian CHED probands and identification of an MPDZ mutation as possible cause of CHED … H Moazzeni, MA Javadi, D Asgari, M Khani, M Emami, A Moghadam, ... British Journal of Ophthalmology 104 (11), 1621-1628, 2020 | 22 | 2020 |
| Insights into the regulatory molecules involved in glaucoma pathogenesis H Moazzeni, M Khani, E Elahi American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2020 | 21 | 2020 |
| HMSN-P caused by p. Pro285Leu mutation in TFG is not confined to patients with Far East ancestry A Alavi, H Shamshiri, S Nafissi, M Khani, B Klotzle, JB Fan, F Steemers, ... Neurobiology of Aging 36 (3), 1606. e1-1606. e7, 2015 | 19 | 2015 |
| Towards a global view of Parkinson's disease genetics M Khani, C Cerquera‐Cleves, M Kekenadze, P Wild Crea, AB Singleton, ... Annals of Neurology 95 (5), 831-842, 2024 | 14 | 2024 |
| Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations M Khani, H Shamshiri, A Alavi, S Nafissi, E Elahi Journal of the Neurological Sciences 369, 318-323, 2016 | 13 | 2016 |
| Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations M Khani, H Shamshiri, F Fatehi, M Rohani, B Haghi Ashtiani, ... Molecular Genetics & Genomic Medicine 8 (7), e1240, 2020 | 10 | 2020 |
| Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot–Marie–Tooth patients with TFG mutation M Khani, H Taheri, H Shamshiri, H Houlden, S Efthymiou, A Alavi, ... American Journal of Medical Genetics Part A 179 (8), 1507-1515, 2019 | 9 | 2019 |
| BVVL/FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes M Khani, H Shamshiri, H Taheri, J Hardy, JT Bras, S Carmona, ... Neurobiology of Aging 99, 102. e1-102. e10, 2021 | 8 | 2021 |
| Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients M Khani, A Alavi, H Shamshiri, B Zamani, H Hassanpour, MH Kazemi, ... Neurobiology of Aging 75, 225. e9-225. e14, 2019 | 8 | 2019 |
| Observation of c. 260A> G mutation in superoxide dismutase 1 that causes p. Asn86Ser in Iranian amyotrophic lateral sclerosis patient and absence of genotype/phenotype correlation M Khani, A Alavi, S Nafissi, E Elahi Iranian journal of neurology 14 (3), 152, 2015 | 6 | 2015 |
| Deep geno-and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation M Khani, H Taheri, H Shamshiri, H Moazzeni, J Hardy, JT Bras, ... Journal of Neurology 268, 640-650, 2021 | 4 | 2021 |
| An Iranian familial amyotrophic lateral sclerosis pedigree with p. Val48Phe causing mutation in SOD1: a genetic and clinical report A Alavi, M Khani, S Nafissi, H Shamshiri, E Elahi Iranian journal of basic medical sciences 17 (10), 735, 2014 | 4 | 2014 |
| Identification of UBA1 as the causative gene of an X‐linked non‐Kennedy spinal–bulbar muscular atrophy M Khani, S Nafissi, H Shamshiri, H Moazzeni, H Taheri, M Sadeghi, ... European Journal of Neurology 29 (12), 3556-3563, 2022 | 2 | 2022 |
| Identification of RNF13 as cause of recessively inherited ALS in a multi-case pedigree M Khani, S Nafissi, H Shamshiri, H Moazzeni, H Taheri, E Elahi Journal of Medical Genetics 60 (3), 301-309, 2023 | 1 | 2023 |
| A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome M Khani, H Shamshiri, H Moazzeni, H Taheri, H Ahmadieh, A Alavi, ... Neuromuscular Disorders 31 (6), 528-531, 2021 | 1 | 2021 |
| Large-scale genetic characterization of Parkinson’s disease in the African and African admixed populations F Akcimen, K Paquette, PW Crea, P Saffie-Awad, C Achoru, F Taiwo, ... medRxiv, 2025.01. 14.25320205, 2025 | | 2025 |
| CARDBiomedBench: A Benchmark for Evaluating Large Language Model Performance in Biomedical Research O Bianchi, M Willey, CX Avarado, B Danek, M Khani, N Kuznetsov, ... bioRxiv, 2025.01. 15.633272, 2025 | | 2025 |
| Biobank-scale characterization of Alzheimer’s disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse … M Khani, F Akçimen, SM Grant, SC Akerman, PS Lee, F Faghri, ... medRxiv, 2024.11. 03.24313587, 2024 | | 2024 |
elahe elahiUniversity of TehranAdresse e-mail validée de ut.ac.ir
