Investigation of Inherited Causes of Autosomal Recessive Non-syndromic Epilepsy in an Iranian Family Using Whole Exome Sequencing Method by Raziyeh Khalesi, Masoud Garshasbi, Mahmood Tavallaei

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Investigation the role of SIRT3, SIRT7, NFATC1, and PDL-1 genes in androgenetic alopecia by Hadis Abbasian, Mehrdad Noruzinia, Masoud Garshasbi

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123VCF: an intuitive and efficient tool for filtering VCF files by Milad Eidi, Samaneh Abdolalizadeh, Soheila Moeini, Masoud Garshasbi, Javad Zahiri

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Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report by Elham Salehi Siavashani, Mahmoud Reza Ashrafi, Homa Ghabeli, Morteza Heidari, Masoud Garshasbi

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Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu‐Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature by Naser Gilani, Fatemeh Bitarafan, Mehmet Ozaslan, Sarah Åsheim, Morteza Heidari, Masoud Garshasbi

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The genetic landscape and possible therapeutics of neurofibromatosis type 2 by Mohammad Amin Ghalavand, Alimohamad Asghari, Mohammad Farhadi, Farzad Taghizadeh-Hesary, Masoud Garshasbi, Masoumeh Falah

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Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome by Fatemeh Bitarafan, Ehsan Razmara, Mehrnoosh Khodaeian, Mohammad Keramatipour, Alireza Kalhor, Ehsan Jafarinia, Masoud Garshasbi

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A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family by Afrooz Sepahvand, Ehsan Razmara, Fatemeh Bitarafan, Mohammad Galehdari, Ali Reza Tavasoli, Navid Almadani, Masoud Garshasbi

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A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9) by Seyyed Mohammad Kahani, Ali Rabbizadeh Saray, Mir Salar Kahaei, Ali Dehghani, Pouria Mohammadi, Masoud Garshasbi

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Evaluation of the association of single nucleotide polymorphisms in DDP4 and CDK5RAP2 genes with rheumatoid arthritis susceptibility in Iranian population by Zahra Malekshahi, Mahdi Mahmoudi, Massoomeh Akhlaghi, Masoud Garshasbi, Ahmadreza Jamshidi, Shiva Poursani, Shayan Mostafaei, Mohammad Hossein Nicknam

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Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report by Fatemeh Bitarafan, Mehrnoosh Khodaeian, Fatemeh Garrousi, Raziyeh Khalesi, Donya Ghazi Nader, Behnam Karimi, Reza Alibakhshi, Masoud Garshasbi

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Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss by Safoura Zardadi, Ehsan Razmara, Golareh Asgaritarghi, Ehsan Jafarinia, Fatemeh Bitarafan, Sima Rayat, Navid Almadani, Saeid Morovvati, Masoud Garshasbi

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Whole‐exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis by Ehsan Razmara, Homeyra Azimi, Amirreza Bitaraf, Mohammad Ali Daneshmand, Mohammad Galehdari, Maryam Dokhanchi, Elika Esmaeilzadeh‐Gharehdaghi, Masoud Garshasbi

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Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12 by Ahmad Daneshi, Masoud Garshasbi, Mohammad Farhadi, Khalil Ghasemi Falavarjani, Mohammad Vafaee-Shahi, Navid Almadani, MohammadSina Zabihi, Mohammad Amin Ghalavand, Masoumeh Falah

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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 by Ali Dehghani, Fardin Khajepour, Mohammad Dehghani, Ehsan Razmara, Mohammadreza Zangouey, Maryam Fekri Soofi Abadi, Reza Bahram Abadi Nezhad, Shahriar Dabiri, Masoud Garshasbi

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Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers by Mohammad Farid Mohammadi, Sahand Tehrani Fateh, Hadi Aghajani, Afshin Bahramy, Seyed Mohammad Salar Zaheryani, Javad Behroozi, Seyyed Mohammad Kahani, Pouria Mohammadi, Masoud Garshasbi

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ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants by Ali Zare Dehnavi, Erfan Heidari, Maryam Rasulinezhad, Morteza Heidari, Mahmoud Reza Ashrafi, Mohammad Mahdi Hosseini, Fatemeh Sadeghzadeh, Mohammad-Sadegh Fallah, Noushin Rostampour, Amir Bahraini, Masoud Garshasbi, Ali Reza Tavasoli

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Correction: Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients by Ali Zare Dehnavi, Maryam Bemanalizadeh, Seyyed Mohammad Kahani, Mahmoud Reza Ashrafi, Mohammad Rohani, Mehran Beiraghi Toosi, Morteza Heidari, Sareh Hosseinpour, Behnam Amini, Shaghayegh Zokaei, Zahra Rezaei, Hajar Aryan, Man Amanat, Hassan Vahidnezhad, Pouria Mohammadi, Masoud Garshasbi, Ali Reza Tavasoli

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Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients by Ali Zare Dehnavi, Maryam Bemanalizadeh, Seyyed Mohammad Kahani, Mahmoud Reza Ashrafi, Mohammad Rohani, Mehran Beiraghi Toosi, Morteza Heidari, Sareh Hosseinpour, Behnam Amini, Shaghayegh Zokaei, Zahra Rezaei, Hajar Aryan, Man Amanat, Hassan Vahidnezhad, Pouria Mohammadi, Masoud Garshasbi, Ali Reza Tavasoli

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The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population by Nejat Mahdieh, Morteza Heidari, Zahra Rezaei, Ali Reza Tavasoli, Sareh Hosseinpour, Maryam Rasulinejad, Ali Zare Dehnavi, Masoud Ghahvechi Akbari, Reza Shervin Badv, Elahe Vafaei, Ali Mohebbi, Pouria Mohammadi, Seyyed Mohammad Mahdi Hosseiny, Reza Azizimalamiri, Ali Nikkhah, Elham Pourbakhtyaran, Mohammad Rohani, Narges Khanbanha, Sedigheh Nikbakht, Mojtaba Movahedinia, Parviz Karimi, Homa Ghabeli, Seyed Ahmad Hosseini, Fatemeh Sadat Rashidi, Masoud Garshasbi, Morteza Rezvani Kashani, Noor M. Ghiasvand, Stephan Zuchner, Matthis Synofzik, Mahmoud Reza Ashrafi

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