Author

Niloofar Chamanrou

Observed name: Chamanrou, Niloofar

Institutions: Shahrekord University, Shahid Chamran University of Ahvaz

Observed institutions: Shahrekord University, Shahid Chamran University of Ahvaz

ORCID: 0009-0009-6221-8359

Observed ORCID: 0009-0009-6221-8359

OpenAlex ID: A5093932332

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

2025 · Stephanie Efthymiou, Cailyn P. Leo, et al. · The American Journal of Human Genetics · 12

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics

2026 · Asuman Koparir, Paulina Bahena Carbajal, et al. · Molecular Medicine · 3

Bi‐Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype–Phenotype Correlations From 61 Patients

2025 · Pegah Beheshti, Fahimeh Akbarian, et al. · Clinical Genetics · 3

Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families

2024 · Rezvan Zabihi, Mina Zamani, et al. · Frontiers in Genetics · 3

Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series

2025 · J Robert Harkness, John H McDermott, et al. · The Lancet Neurology · 2

Bi-allelic TPP1 variants in neuronal ceroid lipofuscinosis 2: clinical findings from an Iranian cohort of 20 patients, founder effect, and in silico analyses

2026 · Sajjad Biglari, Halimeh Rezaei, et al. · Human Genetics · 1

Novel TECTA Variants Reveal Distinct Molecular Mechanisms in Dominant and Recessive Hearing Loss

2026 · Daniel Bengl, Wahyu Eka Prastyo, et al. · Research Square

CNPY3 variants associated with a recessive developmental and epileptic encephalopathy affect inflammasome and TLR function

2026 · Vera Garloff, Mona Grimmel, et al. · EBioMedicine

Biallelic mutations in SUPV3L1 cause a variable leukodystrophy due to impaired mitochondrial degradosome function

2026 · Lydia Green, Noémie Hamilton, et al. · Research Square

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics

2026 · Koparir, Asuman, Carbajal, Paulina Bahena, et al. · Figshare

FRMPD4 , a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing loss

2026 · Daniel Liedtke, Kristen Rak, et al. · medRxiv

Zygosity‐Dependent Phenotypic Spectrum of RELN ‐Related Disorders: 10 New Patients and Genotype–Phenotype Correlations Across 48 Kindreds

2026 · Sajjad Biglari, Halimeh Rezaei, et al. · Human Mutation

Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran

2025 · Rezvan Zabihi, Mina Zamani, et al. · Clinical Genetics

Works count: 14

Citation count: 24

H-index: 3

I10-index: 1