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Atieh Eslahi

Observed names: A Eslahi, Atieh Eslahi Eslahi, Eslahi, Atieh
ORCID: 0000-0002-6934-4851
Observed ORCID: 0000-0002-6934-4851
OpenAlex ID: A5072705705
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease
2017 · Gillian Rice, Naoki Kitabayashi, et al. · Neuropediatrics · 93
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment
2017 · Massimo Zollo, Mustafa Ahmed, et al. · Brain · 77
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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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Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants
2020 · Caroline Neuray, Reza Maroofian, et al. · Brain · 50
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NR1H4‐related Progressive Familial Intrahepatic Cholestasis 5
2020 · Ryan W. Himes, Majid Mojarrad, et al. · Journal of Pediatric Gastroenterology and Nutrition · 26
Investigating the association of Lamotrigine and Phenytoin‐induced Stevens‐Johnson syndrome/Toxic Epidermal Necrolysis with HLA‐B*1502 in Iranian population
2020 · Sara Sabourirad, Reza Mortezaee, et al. · Experimental Dermatology · 21
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes
2020 · Julie C. Van De Weghe, Jessica L. Giordano, et al. · Human Genetics and Genomics Advances · 14
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The worldwide frequency of MYO15A gene mutations in patients with non-syndromic hearing loss: A meta-analysis.
2020 · Mahsa Farjami, Reza Assadi, et al. · PubMed · 13
TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia
2021 · Mahsa Sadat Asl Mohajeri, Atieh Eslahi, et al. · Human Genomics · 11
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New advancements in CRISPR based gene therapy of Duchenne muscular dystrophy
2023 · Atieh Eslahi, Farzaneh Alizadeh, et al. · Gene · 10
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
2023 · Vincenzo Salpietro, Reza Maroofian, et al. · The American Journal of Human Genetics · 9
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Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss
2018 · Maliheh Alimardani, Seyed Mojtaba Hosseini, et al. · Fetal and Pediatric Pathology · 9
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals
2023 · Henrike L. Sczakiel, Max Zhao, et al. · European Journal of Human Genetics · 8
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ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration
2025 · Jordi Del-Pozo-Rodriguez, Peggy Tilly, et al. · Brain · 6
Production of Duchenne muscular dystrophy cellular model using CRISPR-Cas9 exon deletion strategy
2023 · Farzaneh Alizadeh, Yousef Jafari Abraghan, et al. · Molecular and Cellular Biochemistry · 6
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies
2023 · Andrea Accogli, Maha S Zaki, et al. · Brain Communications · 6
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An extensive in silico analysis of missense mutations of the human AIMP2 gene
2024 · Shima Farrokhi, Atieh Eslahi, et al. · Heliyon · 4
PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran.
2021 · Reza Jafarzadeh Esfehani, Atieh Eslahi, et al. · PubMed · 4
Investigation of MYO15A and MYO7A Mutations in Iranian Patients with Nonsyndromic Hearing Loss
2020 · Mahsa Farjami, Mozhgan Fathi, et al. · Fetal and Pediatric Pathology · 4
Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement
2026 · Valentina Galassi Deforie, Reza Maroofian, et al. · Genetics in Medicine · 3
Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran : Insights from exome sequencing analysis
2024 · Masoome Alerasool, Atieh Eslahi, et al. · Clinical Genetics · 3
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder
2026 · Lauretta El Hayek, Ashlesha Gogate, et al. · Human Genetics and Genomics Advances · 2
Deciphering the Genetic and Epidemiological Landscape of Inherited Retinal Diseases ( IRDs ) in a Cohort of Eastern Iranian Patients
2025 · Reza Mousavi Ardehaie, Atieh Eslahi, et al. · Clinical Genetics · 2
The Frequency of Congenital Heart Disorders among Children Issued from Consanguineous Marriages in Khorasan Province, Northeast of Iran
2015 · Mahdieh Daliri Ghouchan atigh, Hassan Motaghi Moghadam, et al. · International biological and biomedical journal · 2
Comprehensive Clinical, Diagnostic, and In Silico Assessment of a Novel 1p36.33p36.32 Copy Number Variant
2026 · Atieh Eslahi, Mir Salar Kahaei, et al. · Journal of Cellular and Molecular Medicine · 1
Works count: 43
Citation count: 456
H-index: 10
I10-index: 10
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