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Author

Mohammadreza Dehghani

Observed names: M* Dehghani, Mohammad Reza Dehghani
ORCID: 0000-0001-5134-9438
Observed ORCID: 0000-0001-5134-9438
OpenAlex ID: A5023993698
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
2019 · Elena Perenthaler, Anita Nikoncuk, et al. · Acta Neuropathologica · 70
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Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration
2018 · Valentina Muto, Elisabetta Flex, et al. · Neurology · 52
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Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
2018 · Hugh J. McMillan, Aida Telegrafi, et al. · Orphanet Journal of Rare Diseases · 46
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Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum
2020 · Rauan Kaiyrzhanov, Saskia Wortmann, et al. · Brain · 25
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Potential role of gender specific effect of leptin receptor deficiency in an extended consanguineous family with severe early-onset obesity
2018 · Mohammad Reza Dehghani, Mohammad Yahya Vahidi Mehrjardi, et al. · European Journal of Medical Genetics · 20
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
2021 · Holger Hengel, Shabab B. Hannan, et al. · The American Journal of Human Genetics · 19
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A programmed decline in ribosome levels governs human early neurodevelopment
2025 · Chunyang Ni, Yudong Wei, et al. · Nature Cell Biology · 17
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
2022 · Maria B. Christensen, Amanda M. Levy, et al. · Clinical Genetics · 16
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Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran
2020 · Hossein Hozhabri, Mehrdad Talebi, et al. · American Journal of Medical Genetics Part A · 16
Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families
2022 · Mahdiyeh Moudi, Mohammad Yahya Vahidi Mehrjardi, et al. · Journal of Clinical Laboratory Analysis · 12
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COVID-19 Seroepidemiology Study of Yazd Province, First Peak, Spring 2020: A Population-Based Cross-Sectional Study
2021 · Mohammad Reza Mirjalili, Seyedeh Mahdieh Namayandeh, et al. · ماهنامه علمی پ‍ژوهشی دانشگاه علوم پزشکی شهید صدوقی یزد · 4
Novel nucleotide variations in the thrombomodulin (THBD) gene involved in coagulation pathways can increase the risk of recurrent pregnancy loss (RPL)
2023 · Mohammad Mehdi Heidari, Bahareh Mazrouei, et al. · Gene · 3
Evaluation of the relationship between miR-337-3p and RAP1A gene in endometriosis
2022 · Mehran Dehghanian, Ghafour Yarahmadi, et al. · Journal of Endometriosis and Pelvic Pain Disorders · 3
Screening of Y-chromosome Microdeletion in Iranian Infertile Men
2011 · S M Kalantar, Mohammadreza Dehghani, et al. · 2
Study of the association between DRD2 Gene Ser311Cys and GSTM1 Gene Polymorphism in Schizophrenia
2019 · Sanaz poorshekar, Afsaneh Firoozfar, et al. · ماهنامه علمی پ‍ژوهشی دانشگاه علوم پزشکی شهید صدوقی یزد · 1
A novel de novo variant of CDKL5 in an Iranian child with infantile-onset refractory epilepsy
2026 · Noorodin Karami, Mohammadreza Dehghani, et al. · Molecular Biology Reports
Identification of novel variants in SSX1, CPNE1, and SPTBN5 in men with oligoasthenoteratozoospermia using whole-genome sequencing
2026 · Sara Sadeghzadeh, Agnieszka Malcher, et al. · Journal of Applied Genetics
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Microenvironment‐Dependent MSC Immunoregulation in Type 1 Diabetes: Insights From IFNγ Preconditioning
2025 · Seyed Mehdi Hoseini, Farnoosh Moghimi, et al. · Genes to Cells
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The microenvironment resulting from the co-culture of human amniotic fluid-derived mesenchymal stem cells with peripheral blood mononuclear cells differs between type 1 diabetes mellitus patients and healthy individuals
2023 · Seyed Mehdi Hoseini, Farnoosh Moghimi, et al. · Research Square
Different paracrine and cell contact effects of human amniotic fluid-derived mesenchymal stem cells on peripheral blood mononuclear cells of type 1 diabetes patients imply the regulatory role of interferon-γ in their interactions
2023 · Seyed Mehdi Hoseini, Farnoosh Moghimi, et al. · Research Square
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Social Predictors of DMFT Index among Adults an Iranian Population in 2016: A Cross-Sectional Study
2023 · A Davari, A Daneshkazemi, et al. · مجله سلامت و بهداشت
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Co-segregation of variant NSUN2 Lue198Arg among Iranian family with intellectual disability: a case report
2022 · Mahdiyeh Moudi, Mohammad Yahya Vahidi Mehrjardi, et al. · Egyptian Journal of Medical Human Genetics
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Evaluation of Rat Muscle Structure in Pre-Menopausal Period after Regular Resistance Exercise and Taking Vitamin D and Calcium Supplements
2020 · Seyedeh Zahra Hosseini Sisi, Mohammad Ali Azarbayjani, et al. · ماهنامه علمی پ‍ژوهشی دانشگاه علوم پزشکی شهید صدوقی یزد
Additional file 1: of Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
2018 · McMillan, Hugh, Telegrafi, Aida, et al. · Figshare
Linkage Analysis of Autosomal Dominant Polycystic Kidney Disease in Iranian Families through PKD1 and PKD2 DNA Microsatellite Markers
2017 · Fatemeh Hajizadeh Tafti, Mohammad Reza Dehghani, et al. · Nephro-Urology Monthly
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Works count: 25
Citation count: 306
H-index: 10
I10-index: 10
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