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Author

Marjan Chapi

ORCID: 0009-0009-8938-2773
Observed ORCID: 0009-0009-8938-2773
OpenAlex ID: A5010345041
COL18A1 is a candidate eye iridocorneal angle-closure gene in humans
2018 · Fatemeh Suri, Shahin Yazdani, et al. · Human Molecular Genetics · 39
Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder
2021 · Francesca Mattioli, Hossein Darvish, et al. · npj Genomic Medicine · 27
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Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy
2019 · Marjan Chapi, Hamideh Sabbaghi, et al. · Ophthalmic Genetics · 18
Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes
2020 · Hossein Darvish, Luis J. Azcona, et al. · Scientific Reports · 17
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A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome
2017 · Javad Jamshidi, Shokoufeh Abdollahi, et al. · European Journal of Medical Genetics · 12
Homozygous Mutation in TWNK Cases Ataxia, Sensorineural Hearing Loss and Optic Nerve Atrophy.
2019 · Faezeh Jamali, Hamid Ghaedi, et al. · PubMed · 9
A novel splice site mutation in the SDCCAG8 gene in an Iranian family with Bardet–Biedl syndrome
2020 · Zahra Bahmanpour, Yousef Daneshmandpour, et al. · International Ophthalmology · 6
A novel mutation in the ALS2 gene in an iranian kurdish family with juvenile amyotrophic lateral sclerosis
2022 · Yousef Daneshmandpour, Zahra Bahmanpour, et al. · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · 4
The rs1986112 Variant is Associated with Increased RAB8B Gene Expression in Schizophrenic Patients
2019 · Amir Johari, Farhad Nejad, et al. · Clinical Laboratory · 2
Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin‐511 in Early Neurodevelopment
2026 · Caitlin Raaz, Laurel Bruce, et al. · Case Reports in Genetics · 1
Developmental Convergence Across Diverse Genetic Architectures in Childhood Apraxia of Speech
2026 · Tiffanie White, Marjan Chapi, et al. · bioRxiv (Cold Spring Harbor Laboratory)
Works count: 11
Citation count: 135
H-index: 6
I10-index: 5
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