Masoud Garshasbi

ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 23

Top Venues

Molecular genetics & genomic medicine

Acta neurologica Belgica

BMC pediatrics

Human mutation

Tarbiat Modares University

Max-Planck Institute for Molecular Genetics (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Tarbiat Modares University Mar 01 2019

Iran

Associate Professor :: Medical Genetics

DeNA Laboratory Jan 01 2014

Iran

Head of Department :: Medical Genetics

Tarbiat Modares University Nov 01 2011 - Feb 28 2019

Iran

Assistant Prof. :: Medical Genetics

Pars Hospital Jan 01 2012 - Jan 01 2014

Iran

Head of department :: Medical Genetics

Education History

Max-Planck Institute for Molecular Genetics Feb 20 2004 - May 01 2009

Germany

PHD :: Human Moolecular Genetics

Publications

Mohammad Farid Mohammadi, Sahand Tehrani Fateh, Hadi Aghajani, Afshin Bahramy, Seyed Mohammad Salar Zaheryani, Javad Behroozi, Seyyed Mohammad Kahani, Pouria Mohammadi, Masoud Garshasbi
Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers. Clinical case reports 11 (10) (2023)
Mohammad Farid Mohammadi, Ali Dehghani, Kiana Zarabadi, Seyyed Mohammad Kahani, Setareh Sayyad, Mahmoud Reza Ashrafi, Morteza Heidari, Pouria Mohammadi, Masoud Garshasbi, Ali Reza Tavasoli
Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature. Irish journal of medical science (2023)
Safoura Zardadi, Ehsan Razmara, Maryam Rasoulinezhad, Meisam Babaei, Mohammad Reza Ashrafi, Neda Pak, Masoud Garshasbi, Ali Reza Tavasoli
Symptomatic care of late-onset Alexander disease presenting with area postrema-like syndrome with prednisolone; a case report. BMC pediatrics 22 (1) (2022)
Fatemeh Rajabi, Ali Hosseini Bereshneh, Mahboubeh Ramezanzadeh, Masoud Garshasbi
Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report. BMC pediatrics 22 (1) (2022)
Pouria Mohammadi, Morteza Heidari, Mahmoud Reza Ashrafi, Nejat Mahdieh, Masoud Garshasbi
A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy. Acta neurologica Belgica (2021)
Fatemeh Bitarafan, Mehrnoosh Khodaeian, Elham Amjadi Sardehaei, Fatemeh Zahra Darvishi, Navid Almadani, Yalda Nilipour, Masoud Garshasbi
Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family. Molecular and cellular pediatrics 8 (1) (2021)
Erfan Heidari, Alexander N Harrison, Ehsan Jafarinia, Ali Reza Tavasoli, Navid Almadani, Robert S Molday, Masoud Garshasbi
Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum. Human mutation 42 (5) (2021)
Amirreza Bitaraf, Ehsan Razmara, Babak Bakhshinejad, Hassan Yousefi, Mousa Vatanmakanian, Masoud Garshasbi, William Chi Shing Cho, Sadegh Babashah
The oncogenic and tumor suppressive roles of RNA-binding proteins in human cancers. Journal of cellular physiology 236 (9) (2021)
Fardin Soleimanipour, Ehsan Razmara, Fatemeh Rahbarizadeh, Elnaz Fallahi, Mehrnoosh Khodaeian, Ali Reza Tavasoli, Masoud Garshasbi
A novel missense variant in the LMNB2 gene causes progressive myoclonus epilepsy. Acta neurologica Belgica (2021)
Naser Gilani, Ehsan Razmara, Mehmet Ozaslan, Ihsan Kareem Abdulzahra, Saeid Arzhang, Ali Reza Tavasoli, Masoud Garshasbi
A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses. Acta neurologica Belgica 121 (3) (2021)
Pouria Mohammadi, Elham Salehi Siavashani, Mohammad Farid Mohammadi, Afshin Bahramy, Navid Almadani, Masoud Garshasbi
Whole-exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3. Molecular genetics & genomic medicine 9 (11) (2021)
Fatemeh Bitarafan, Ehsan Razmara, Mehrnoosh Khodaeian, Mohammad Keramatipour, Alireza Kalhor, Ehsan Jafarinia, Masoud Garshasbi
Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome. Molecular genetics & genomic medicine 8 (8) (2020)
Ehsan Razmara, Homeyra Azimi, Amirreza Bitaraf, Mohammad Ali Daneshmand, Mohammad Galehdari, Maryam Dokhanchi, Elika Esmaeilzadeh-Gharehdaghi, Masoud Garshasbi
Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis. Molecular genetics & genomic medicine 8 (3) (2020)
Erfan Heidari, Ehsan Razmara, Sareh Hosseinpour, Ali Reza Tavasoli, Masoud Garshasbi
Homozygous in-frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family. Annals of human genetics 84 (4) (2020)
Fatemeh Bitarafan, Seyed Yousef Seyedena, Mahdi Mahmoudi, Masoud Garshasbi
Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing. Journal of clinical laboratory analysis 34 (12) (2020)
Safoura Zardadi, Ehsan Razmara, Golareh Asgaritarghi, Ehsan Jafarinia, Fatemeh Bitarafan, Sima Rayat, Navid Almadani, Saeid Morovvati, Masoud Garshasbi
Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss. Molecular genetics & genomic medicine 8 (12) (2020)
Pouria Mohammadi, Mohammad Ali Daneshmand, Nejat Mahdieh, Mahmoud Reza Ashrafi, Morteza Heidari, Masoud Garshasbi
Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy. Acta neurologica Belgica 121 (1) (2020)
Zahra Farajollahi, Ehsan Razmara, Erfan Heidari, Ehsan Jafarinia, Masoud Garshasbi
A novel variant of ST3GAL3 causes non-syndromic autosomal recessive intellectual disability in Iranian patients. The journal of gene medicine 22 (11) (2020)
Afrooz Sepahvand, Ehsan Razmara, Fatemeh Bitarafan, Mohammad Galehdari, Ali Reza Tavasoli, Navid Almadani, Masoud Garshasbi
A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family. Molecular genetics & genomic medicine 8 (10) (2020)
Elika Esmaeilzadeh-Gharehdaghi, Ehsan Razmara, Amirreza Bitaraf, Ahmadreza Jamshidi, Mahdi Mahmoudi, Masoud Garshasbi
Functional Analysis of RELN S2486G Mutation and its Contribution to Pathogenesis of Ankylosing Spondylitis. Archives of Iranian medicine 23 (10) (2020)
Milad Eidi, Masoud Garshasbi
A novel ISCA2 variant responsible for an early-onset neurodegenerative mitochondrial disorder: a case report of multiple mitochondrial dysfunctions syndrome 4. BMC neurology 19 (1) (2019)
Ehsan Razmara, Amirreza Bitaraf, Hassan Yousefi, Tina H Nguyen, Masoud Garshasbi, William Chi Shing Cho, Sadegh Babashah
Non-Coding RNAs in Cartilage Development: An Updated Review. International journal of molecular sciences 20 (18) (2019)
Ehsan Razmara, Masoud Garshasbi
Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease. BMC cardiovascular disorders 18 (1) (2018)

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Publication Activity (10 Years)

Top Topics

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Masoud Garshasbi