Marjan Chapi

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Academic Profile

Posts

Contact Information

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Educations

Medical Genetics & GenomicsMaster'sShahid Beheshti University of Medical Sciences2018-08-23 Iran

Supervisor's name :Hossein Darvish

Title :

Identyfing disease causing mutation in families affected with inherited retinal diseases using whole exome sequencing

Biological Sciences–Cell Biology And Molecular GeneticsBachelor'sUniversity of Isfahan2014-06-29 Iran

Work Experiences

Learner Facilitator

at Kondor Stories

I am currently working in this role

Research assistant

at Iranian Supreme Council

Start : 31-Jul-2018

End : 31-Jul-2019

Laboratory Analyst

at Novin Genetic Lab

Start : 11-Nov-2019

End : 29-May-2020

English Scores

IELTS06-Jun-2023

7.5/9Total

Reading :

8/9

Speaking :

7.5/9

Listening :

7.5/9

Writing :

7/9

Journal Publications

Publication Title :

COL18A1 is a candidate eye iridocorneal angle-closure gene in humansFirst author

Journal :

Human Molecular Genetics

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Publication Title :

Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophyFirst author

Journal :

Ophthalmic Genetics

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Publication Title :

Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genesFirst author

Journal :

Scientific Reports

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Publication Title :

A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndromeFirst author

Journal :

European Journal of Medical Genetics

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Publication Title :

Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorderFirst author

Journal :

npj Genomic Medicine

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Publication Title :

A novel splice site mutation in the SDCCAG8 gene in an Iranian family with Bardet–Biedl syndromeFirst author

Journal :

International Ophthalmology

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Publication Title :

Homozygous mutation in TWNK cases ataxia, sensorineural hearing loss and optic nerve atrophyFirst author

Journal :

Archives of Iranian Medicine

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Publication Title :

A novel mutation in the ALS2 gene in an iranian kurdish family with juvenile amyotrophic lateral sclerosisFirst author

Journal :

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

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Publication Title :

The rs1986112 Variant is Associated with Increased RAB8B Gene Expression in Schizophrenic Patients.First author

Journal :

Clinical Laboratory

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References

Hossein Darvish

darvish_mg@yahoo.com

Elaheh Hosseini

elahe.hoseyni@gmail.com

Mohammad Bagher Hashemi Sooteh

Hashemisoteh@mazums.ac.ir