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Maryam Najafi

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
2019 · Stephanie Efthymiou, Vincenzo Salpietro, et al. · Brain · 86
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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
2021 · Manuela Wiessner, Reza Maroofian, et al. · Brain · 53
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Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking
2021 · Leslie E Sanderson, Kristina Lanko, et al. · Brain · 53
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Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder
2019 · Caroline M. Dias, Jaya Punetha, et al. · The American Journal of Human Genetics · 46
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Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
2020 · Nicolas Chatron, Felicitas Becker, et al. · Brain · 40
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MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)
2018 · Abolfazl Rad, Umut Altunoglu, et al. · Journal of Medical Genetics · 38
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MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss
2018 · Guney Bademci, Clemer Abad, et al. · Human Genetics · 34
Expanding the clinical phenotype of IARS2-related mitochondrial disease
2018 · Barbara Vona, Reza Maroofian, et al. · BMC Medical Genetics · 31
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Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function
2018 · Atteeq U. Rehman, Maryam Najafi, et al. · Human Mutation · 26
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SOX1 is correlated to stemness state regulator SALL4 through progression and invasiveness of esophageal squamous cell carcinoma
2016 · Abolfazl Rad, Saeed Esmaeili Dizghandi, et al. · Gene · 25
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
2023 · Rauan Kaiyrzhanov, Aboulfazl Rad, et al. · Brain · 23
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Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis
2019 · Maryam Najafi, Dor Mohammad Kordi-Tamandani, et al. · Orphanet Journal of Rare Diseases · 22
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The First Inherited Retinal Disease Registry in Iran: Research Protocol and Results of a Pilot Study
2020 · Hamideh Sabbaghi, Narsis Daftarian, et al. · Archives of Iranian Medicine · 19
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Contribution of LATS1 and LATS2 promoter methylation in OSCC development
2016 · Mohammad Ayoub Rigi Ladiz, Maryam Najafi, et al. · Journal of Cell Communication and Signaling · 19
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Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child
2018 · Reza Maroofian, Isabel Schuele, et al. · Kidney International Reports · 16
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High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases
2022 · Maryam Najafi, Korbinian M. Riedhammer, et al. · Frontiers in Pediatrics · 12
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Evaluation ofLATS1andLATS2Promoter Methylation with the Risk of Pterygium Formation
2016 · Maryam Najafi, Dor Mohammad Kordi-Tamandani, et al. · Journal of Ophthalmology · 12
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Association of Glutathione S-Transferase Gene Methylation with Risk of Schizophrenia in an Iranian Population
2014 · Dor Mohammad Kordi-Tamandani, Azizollah Mojahed, et al. · Pharmacology · 11
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
2022 · Aboulfazl Rad, Maryam Najafi, et al. · Orphanet Journal of Rare Diseases · 9
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A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East
2019 · Maryam Najafi, Dor Mohammad Kordi Tamandani, et al. · Frontiers in Pediatrics · 9
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Crosstalk between SHH and stemness state signaling pathways in esophageal squamous cell carcinoma
2016 · Maryam Najafi, Mohammad Reza Abbaszadegan, et al. · Journal of Cell Communication and Signaling · 9
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RNU4-2 monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinity
2025 · Aida M Bertoli-Avella, Christian A Ganoza, et al. · Journal of Medical Genetics · 6
Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update
2022 · Tayebeh Baranzehi, Dor Mohammad Kordi-Tamandani, et al. · Journal of Clinical Medicine · 6
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Expression of Pluripotency Markers, SOX2 and OCT4, in Pterygium Development
2018 · Ebrahim Shirzadeh, Maryam Najafi, et al. · Critical Reviews in Eukaryotic Gene Expression · 4
Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder
2023 · Christian A.E. Westrip, Franziska Paul, et al. · Genetics in Medicine · 3
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Works count: 41
Citation count: 619
H-index: 15
I10-index: 18
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