Masoud Garshasbi
Tarbiat Modares University
H-index: 33
Asia-Iran
Top articles of Masoud Garshasbi
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies | Brain and Development | Sareh Hosseinpour Ehsan Razmara Morteza Heidari Zahra Rezaei Mahmoud Reza Ashrafi | 2024/4/1 |
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders | Brain | Rauan Kaiyrzhanov Aboulfazl Rad Sheng-Jia Lin Aida Bertoli-Avella Wouter W Kallemeijn | 2024/4 |
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population | Human genomics | Nejat Mahdieh Morteza Heidari Zahra Rezaei Ali Reza Tavasoli Sareh Hosseinpour | 2024/12 |
123VCF: an intuitive and efficient tool for filtering VCF files | BMC bioinformatics | Milad Eidi Samaneh Abdolalizadeh Soheila Moeini Masoud Garshasbi Javad Zahiri | 2024/12 |
Hsa-miR-194-5p and hsa-miR-195-5p are down-regulated expressed in high dysplasia HPV-positive Pap smear samples compared to normal cytology HPV-positive Pap smear samples | BMC Infectious Diseases | Ali Dehghani Fardin Khajepour Mohammad Dehghani Ehsan Razmara Mohammadreza Zangouey | 2024/2/12 |
Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature | Mohammad Farid Mohammadi Ali Dehghani Kiana Zarabadi Seyyed Mohammad Kahani Setareh Sayyad | 2024/2 | |
Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71 | Neurogenetics | Afsaneh Bazgir Mehdi Agha Gholizadeh Seyyed Mohammad Kahani Ali Reza Tavasoli Masoud Garshasbi | 2024/4/15 |
Cell-free fetal DNA (cffDNA) extraction from whole blood by using a fully automatic centrifugal microfluidic device based on displacement of magnetic silica beads | Talanta | Ali Hatami Maryam Saadatmand Masoud Garshasbi | 2024/1/15 |
DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity | DNA repair | Amir Hozhabrpour Marzieh Mojbafan Fahimeh Palizban Saeed Talebi Maliheh Amani | 2024/4/1 |
123FASTQ: an intuitive and efficient tool for preprocessing Illumina FASTQ reads | bioRxiv | Milad Eidi Samaneh Abdolalizadeh Mohammad Hossein Nasirpour Javad Zahiri Masoud Garshasbi | 2024 |
Expanding phenotype heterogeneity of NARS2 by presenting subdural hematoma and parenchymal hemorrhage | Journal of Clinical Laboratory Analysis | Mehrnoosh Khodaeian Fatemeh Bitarafan Fatemeh Garrousi Elham Amjadi Sardehie Neda Pak | 2023/11 |
Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report | BMC Endocrine Disorders | Fatemeh Bitarafan Mehrnoosh Khodaeian Fatemeh Garrousi Raziyeh Khalesi Donya Ghazi Nader | 2023/7/20 |
Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12 | BMC Medical Genomics | Ahmad Daneshi Masoud Garshasbi Mohammad Farhadi Khalil Ghasemi Falavarjani Mohammad Vafaee-Shahi | 2023/10/6 |
Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients | Orphanet journal of rare diseases | Ali Zare Dehnavi Maryam Bemanalizadeh Seyyed Mohammad Kahani Mahmoud Reza Ashrafi Mohammad Rohani | 2023/7/5 |
Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers | Clinical Case Reports | Mohammad Farid Mohammadi Sahand Tehrani Fateh Hadi Aghajani Afshin Bahramy Seyed Mohammad Salar Zaheryani | 2023/10 |
The genetic landscape and possible therapeutics of neurofibromatosis type 2 | Mohammad Amin Ghalavand Alimohamad Asghari Mohammad Farhadi Farzad Taghizadeh-Hesary Masoud Garshasbi | 2023/5/23 | |
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry | neurogenetics | Mahmoudreza Ashrafi Reyhaneh Kameli Sareh Hosseinpour Ehsan Razmara Zahra Zamani | 2023/10 |
A biallelic variant in POLR2C is associated with congenital hearing loss and male infertility: Case report | European Journal of Clinical Investigation | Fatemeh Bitarafan Ehsan Razmara Ehsan Jafarinia Navid Almadani Masoud Garshasbi | 2023/4 |
Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a … | BMC Medical Genomics | Elham Salehi Siavashani Mahmoud Reza Ashrafi Homa Ghabeli Morteza Heidari Masoud Garshasbi | 2023/9/26 |
Compound heterozygous variants in SPNS2 cause sensorineural hearing loss | European Journal of Medical Genetics | Saba Mardani Navid Almadani Masoud Garshasbi | 2023/1/1 |
Co-Authors
