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Scientific Reports|June 23, 2019
Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathyEdward G Jones, Neda Mazaheri, Reza Maroofian, et al.
Cell Reports|June 7, 2025
Combinatorial transcriptional regulation establishes subtype-appropriate synaptic properties in auditory neuronsIsle Bastille, Lucy Lee, Cynthia Moncada-Reid, et al.
Journal of Medical Genetics|July 29, 2020
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathyReza Maroofian, Jiří Sedmík, Neda Mazaheri, et al.
Iranian Journal of Child Neurology|May 1, 2019
Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic AnalysisSomayyeh Hashemian, Peyman Eshraghi, Nafi Dilaver, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 22, 2018
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variantMayada Helal, Neda Mazaheri, Bita Shalbafan, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 20, 2024
Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing lossClara Mendia, Thibault Peineau, Mina Zamani, et al.
Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
PKHD1L1, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing LossShelby E Redfield, Pedro De-la-Torre, Mina Zamani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2020
Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3Daniel Peter Sayer Osborn, Leila Emrahi, Joshua Clayton, et al.
Human Genetics|March 8, 2024
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing lossShelby E Redfield, Pedro De-la-Torre, Mina Zamani, et al.
Clinical Genetics|September 15, 2025
Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest IranRezvan Zabihi, Mina Zamani, Niloofar Chamanrou, et al.
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