MOST CITED SCHOLAR PUBLICATIONS
- 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 diseasesE Perenthaler, A Nikoncuk, S Yousefi, WM Berdowski, M Alsagob, I Capo, ...Acta Neuropathologica 139, 415-442 2020Citations: 48
- 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 studyF Zeinali, SM Aghaei Zarch, A Jahan-Mihan, SM Kalantar, ...PloS one 16 (6), e0251697 2021Citations: 44
- Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegenerationV Muto, E Flex, Z Kupchinsky, G Primiano, H Galehdari, M Dehghani, ...Neurology 91 (4), e319-e330 2018Citations: 42
- Homozygous missense variants in NTNG2, encoding a presynaptic netrin-G2 adhesion protein, lead to a distinct neurodevelopmental disorderCM Dias, J Punetha, C Zheng, N Mazaheri, A Rad, S Efthymiou, ...The American Journal of Human Genetics 105 (5), 1048-1056 2019Citations: 40
- Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophyHJ McMillan, A Telegrafi, A Singleton, MT Cho, D Lelli, FC Lynn, J Griffin, ...Orphanet Journal of Rare Diseases 13, 1-10 2018Citations: 35
- Molecular biomarkers in diabetes mellitus (DM)SMA Zarch, MD Tezerjani, M Talebi, MYV MehrjardiMedical journal of the Islamic republic of Iran 34, 28 2020Citations: 30
- Evaluation of miR-181b and miR-126-5p expression levels in T2DM patients compared to healthy individuals: relationship with NF-κB gene expressionM Dehghani, SMA Zarch, MYV Mehrjardi, M Nazari, E Babakhanzadeh, ...Endocrinologia, diabetes y nutricion 67 (7), 454-460 2020Citations: 28
- Testicular expression of TDRD1, TDRD5, TDRD9 and TDRD12 in azoospermiaE Babakhanzadeh, A Khodadadian, S Rostami, I Alipourfard, M Aghaei, ...BMC Medical Genetics 21, 1-7 2020Citations: 27
- 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: studyF Zeinali, SM Aghaei Zarch, MY Vahidi Mehrjardi, SM Kalantar, ...Trials, 1-9 2020Citations: 23
- Genetic screening of congenital short bowel syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorderMM Alves, D Halim, R Maroofian, BM De Graaf, R Rooman, ...European Journal of Human Genetics 24 (11), 1627-1629 2016Citations: 22
- Potential role of gender specific effect of leptin receptor deficiency in an extended consanguineous family with severe early-onset obesityMR Dehghani, MY Vahidi Mehrjardi, N Dilaver, M Tajamolian, S Enayati, ...European Journal of Medical Genetics 2018Citations: 20
- Circulating MiR-15a and MiR-222 as potential biomarkers of type 2 diabetesS Sadeghzadeh, M Dehghani Ashkezari, SM Seifati, MY Vahidi Mehrjardi, ...Diabetes, Metabolic Syndrome and Obesity, 3461-3469 2020Citations: 19
- MiR-181b expression levels as molecular biomarker for type 2 diabetesSM Aghaei Zarch, MY Vahidi Mehrjardi, E Babakhanzadeh, M Nazari, ...Journal of Mazandaran University of Medical Sciences 29 (176), 195-201 2019Citations: 17
- Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1B Appelhof, M Wagner, J Hoefele, A Heinze, T Roser, M Koch-Hogrebe, ...European Journal of Human Genetics 29 (3), 411-421 2021Citations: 16
- B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype–phenotype associations in the muscularR Maroofian, M Riemersma, LT Jae, N Zhianabed, MH Willemsen, ...Genome Medicine 9, 1-11 2017Citations: 16
- Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrumR Kaiyrzhanov, S Wortmann, T Reid, M Dehghani, MY Vahidi Mehrjardi, ...Brain 144 (3), e30-e30 2021Citations: 13
- Plasma miR-21 as a potential predictor in prediabetic individuals with a positive family history of type 2 diabetes mellitusZ Yazdanpanah, N Kazemipour, SM Kalantar, MY Vahidi MehrjardiPhysiological Reports 2022Citations: 12
- 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 RahmanianFrontiers in Pediatrics 8, 340 2020Citations: 9
- A novel mutation in the OFD1 gene in a family with oral-facial-digital syndrome type 1: A case reportMD Tezerjani, R Maroofian, MYV Mehrjardi, BA Chioza, S Zamaninejad, ...Iranian Journal of Public Health 45 (10), 1359 2016Citations: 9
- Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorderH Hengel, SB Hannan, S Dyack, SB MacKay, U Schatz, M Fleger, ...The American Journal of Human Genetics 108 (6), 1069-1082 2021Citations: 8
