| Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 A Vetro, MR Dehghani, L Kraoua, R Giorda, S Beri, L Cardarelli, M Merico, ... European Journal of Human Genetics 23 (8), 1025-1032, 2015 | 84 | 2015 |
| Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases E Perenthaler, A Nikoncuk, S Yousefi, WM Berdowski, M Alsagob, I Capo, ... Acta Neuropathologica 139, 415-442, 2020 | 49 | 2020 |
| Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration V Muto, E Flex, Z Kupchinsky, G Primiano, H Galehdari, M Dehghani, ... Neurology 91 (4), e319-e330, 2018 | 42 | 2018 |
| Homozygous missense variants in NTNG2, encoding a presynaptic netrin-G2 adhesion protein, lead to a distinct neurodevelopmental disorder CM Dias, J Punetha, C Zheng, N Mazaheri, A Rad, S Efthymiou, ... The American Journal of Human Genetics 105 (5), 1048-1056, 2019 | 40 | 2019 |
| Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy HJ McMillan, A Telegrafi, A Singleton, MT Cho, D Lelli, FC Lynn, J Griffin, ... Orphanet Journal of Rare Diseases 13, 1-10, 2018 | 35 | 2018 |
| Evaluation of miR-181b and miR-126-5p expression levels in T2DM patients compared to healthy individuals: relationship with NF-κB gene expression M Dehghani, SMA Zarch, MYV Mehrjardi, M Nazari, E Babakhanzadeh, ... Endocrinologia, diabetes y nutricion 67 (7), 454-460, 2020 | 28 | 2020 |
| Genetic screening of congenital short bowel syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder MM Alves, D Halim, R Maroofian, BM De Graaf, R Rooman, ... European Journal of Human Genetics 24 (11), 1627-1629, 2016 | 23 | 2016 |
| A new classification for female infertility A Aflatoonian, B Baghianimoghadam, R Partovi, A Abdoli, R Hemmati, ... Clinical and Experimental Obstetrics and Gynaecology 38 (4), 379, 2011 | 23 | 2011 |
| Potential role of gender specific effect of leptin receptor deficiency in an extended consanguineous family with severe early-onset obesity MR Dehghani, MYV Mehrjardi, N Dilaver, M Tajamolian, S Enayati, ... European journal of medical genetics 61 (8), 465-467, 2018 | 20 | 2018 |
| Dravet phenotype in a subject with a der (4) t (4; 8)(p16. 3; p23. 3) without the involvement of the LETM1 gene B Bayindir, E Piazza, E Della Mina, I Limongelli, F Brustia, R Ciccone, ... European Journal of Medical Genetics 56 (10), 551-555, 2013 | 20 | 2013 |
| Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1 B Appelhof, M Wagner, J Hoefele, A Heinze, T Roser, M Koch-Hogrebe, ... European Journal of Human Genetics 29 (3), 411-421, 2021 | 18 | 2021 |
| MiR-181b expression levels as molecular biomarker for type 2 diabetes SM Aghaei Zarch, MY Vahidi Mehrjardi, E Babakhanzadeh, M Nazari, ... Journal of Mazandaran University of Medical Sciences 29 (176), 195-201, 2019 | 17 | 2019 |
| Efficacy and safety of a protein-based SARS-CoV-2 vaccine: a randomized clinical trial E Mostafavi, S Eybpoosh, M Karamouzian, M Khalili, S Haji-Maghsoudi, ... JAMA Network Open 6 (5), e2310302-e2310302, 2023 | 16 | 2023 |
| Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum R Kaiyrzhanov, S Wortmann, T Reid, M Dehghani, MY Vahidi Mehrjardi, ... Brain 144 (3), e30-e30, 2021 | 13 | 2021 |
| Death risk among COVID-19 patients in Yazd, Iran: a hospital-based case-cohort study M Mirjalili, M Dehghani, M Raadabadi, A Dehghani Journal of Military Medicine 23 (3), 274-282, 2021 | 10 | 2021 |
| A novel mutation in the OFD1 gene in a family with oral-facial-digital syndrome type 1: A case report MD Tezerjani, R Maroofian, MYV Mehrjardi, BA Chioza, S Zamaninejad, ... Iranian Journal of Public Health 45 (10), 1359, 2016 | 9 | 2016 |
| Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder H Hengel, SB Hannan, S Dyack, SB MacKay, U Schatz, M Fleger, ... The American Journal of Human Genetics 108 (6), 1069-1082, 2021 | 8 | 2021 |
| A common ancestral Asn242Ser mutation in TMEM67 identified in multiple Iranian families with Joubert syndrome MR Dehghani, M Mojarad, E Ghayoor Karimiani, MY Vahidi Mehrjardi, ... Public health genomics 20 (3), 188-193, 2017 | 8 | 2017 |
| Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder MB Christensen, AM Levy, NA Mohammadi, M Niceta, R Kaiyrzhanov, ... Clinical genetics 102 (2), 98-109, 2022 | 7 | 2022 |
| Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran H Hozhabri, M Talebi, MYV Mehrjardi, A De Luca, M Dehghani American Journal of Medical Genetics Part A 182 (5), 957-961, 2020 | 7 | 2020 |
Mohammad Yahya Vahidi MehrjardiAssistant Professor in Molecular Genetics, Shahid Sadoughi University of Medical SciencesVerified email at ssu.ac.ir
