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Author

Neda Mazaheri

Observed names: Mazaheri Neda, Mazaheri, N, Mazaheri, Neda
ORCID: 0000-0002-7638-5555
Observed ORCID: 0000-0002-7638-5555
OpenAlex ID: A5074118681
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease
2020 · Paige B. Martin, Yu Kigoshi-Tansho, et al. · Nature Communications · 109
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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
2019 · Devesh C. Pant, Imen Dorboz, et al. · Journal of Clinical Investigation · 107
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Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
2017 · Daniel P.S. Osborn, Heather L. Pond, et al. · The American Journal of Human Genetics · 78
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Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration
2018 · Valentina Muto, Elisabetta Flex, et al. · Neurology · 54
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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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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
2021 · Marjolein J.A. Weerts, Kristina Lanko, et al. · Genetics in Medicine · 42
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TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia
2022 · Luis Carlos Tábara, Fatema Al-Salmi, et al. · Brain · 41
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Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults
2017 · Majida Charif, Alessia Nasca, et al. · JAMA Neurology · 39
Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3
2020 · Daniel Peter Sayer Osborn, Leila Emrahi, et al. · Genetics in Medicine · 37
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Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy
2019 · Edward G. Jones, Neda Mazaheri, et al. · Scientific Reports · 33
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A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans
2021 · Barbara Vona, Neda Mazaheri, et al. · Human Genetics · 32
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Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
2021 · Sheng-Jia Lin, Barbara Vona, et al. · Genetics in Medicine · 30
Biallelic variants in ADARB1 , encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy
2020 · Reza Maroofian, Jiří Sedmík, et al. · Journal of Medical Genetics · 30
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Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant
2018 · Mayada Helal, Neda Mazaheri, et al. · Neurological Sciences · 29
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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
2020 · Shereen G. Ghosh, Marcello Scala, et al. · European Journal of Human Genetics · 20
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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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Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation
2017 · Mert Karakaya, Neda Mazaheri, et al. · Brain · 17
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
2020 · Gabriella Vera, Arthur Sorlin, et al. · European Journal of Medical Genetics · 15
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Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking
2019 · Haicui Wang, Ayşe Kaçar Bayram, et al. · Frontiers in Neuroscience · 15
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Ameliorating Effect of Osteopontin on H2O2-Induced Apoptosis of Human Oligodendrocyte Progenitor Cells
2017 · Neda Mazaheri, Maryam Peymani, et al. · Cellular and Molecular Neurobiology · 15
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome
2020 · Pasquelena De Nittis, Stephanie Efthymiou, et al. · Journal of Medical Genetics · 12
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Abstracts from the 51st European Society of Human Genetics Conference: Posters
2019 · Muto, V, Flex, E, et al. · European Journal of Human Genetics · 11
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Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing
2020 · Samira Negahdari, Mina Zamani, et al. · International Journal of Preventive Medicine · 6
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Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease
2020 · Paige B. Martin, Yu Kigoshi-Tansho, et al. · Nature Communications · 5
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Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly
2021 · Sahar Sadat Sedighzadeh, Alireza Sedaghat, et al. · Congenital Anomalies · 4
Works count: 37
Citation count: 851
H-index: 17
I10-index: 22
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