| 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 |
| Circulating microRNA-122, microRNA-126-3p and microRNA-146a are associated with inflammation in patients with pre-diabetes and type 2 diabetes mellitus: A case control study F Zeinali, SM Aghaei Zarch, A Jahan-Mihan, SM Kalantar, ... PloS one 16 (6), e0251697, 2021 | 44 | 2021 |
| 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 | 41 | 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 |
| Molecular biomarkers in diabetes mellitus (DM) SMA Zarch, MD Tezerjani, M Talebi, MYV Mehrjardi Medical journal of the Islamic republic of Iran 34, 28, 2020 | 31 | 2020 |
| 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 |
| Testicular expression of TDRD1, TDRD5, TDRD9 and TDRD12 in azoospermia E Babakhanzadeh, A Khodadadian, S Rostami, I Alipourfard, M Aghaei, ... BMC Medical Genetics 21, 1-7, 2020 | 27 | 2020 |
| Effects of synbiotic supplementation on gut microbiome, serum level of TNF-α, and expression of microRNA-126 and microRNA-146a in patients with type 2 diabetes mellitus: study … F Zeinali, SM Aghaei Zarch, MY Vahidi Mehrjardi, SM Kalantar, ... Trials, 1-9, 2020 | 24 | 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 |
| Potential role of gender specific effect of leptin receptor deficiency in an extended consanguineous family with severe early-onset obesity MR Dehghani, MY Vahidi Mehrjardi, N Dilaver, M Tajamolian, S Enayati, ... European Journal of Medical Genetics, 2018 | 20 | 2018 |
| Circulating MiR-15a and MiR-222 as potential biomarkers of type 2 diabetes S Sadeghzadeh, M Dehghani Ashkezari, SM Seifati, MY Vahidi Mehrjardi, ... Diabetes, Metabolic Syndrome and Obesity, 3461-3469, 2020 | 19 | 2020 |
| 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 |
| B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype–phenotype associations in the muscular … R Maroofian, M Riemersma, LT Jae, N Zhianabed, MH Willemsen, ... Genome Medicine 9, 1-11, 2017 | 16 | 2017 |
| 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 |
| Plasma miR-21 as a potential predictor in prediabetic individuals with a positive family history of type 2 diabetes mellitus Z Yazdanpanah, N Kazemipour, SM Kalantar, MY Vahidi Mehrjardi Physiological Reports, 2022 | 12 | 2022 |
| A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II) M Dehghan Tezerjani, MY Vahidi Mehrjardi, H Hozhabri, M Rahmanian Frontiers in Pediatrics 8, 340, 2020 | 9 | 2020 |
| 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 |
Mohmmadreza DehghaniAssociated professor of Medical Genetics ,Shahid Sadough University of Medical SciencesVerified email at unipv.it
