Publications

access deny [1421]

YEAR	TITLE
2024	Cell-free fetal DNA (cffDNA) extraction from whole blood by using a fully automatic centrifugal microfluidic device based on displacement of magnetic silica beads A Hatami, M Saadatmand, M Garshasbi Talanta 267, 125245
2023	The genetic landscape and possible therapeutics of neurofibromatosis type 2 MA Ghalavand, A Asghari, M Farhadi, F Taghizadeh-Hesary, M Garshasbi, ... Cancer Cell International 23 (1), 1-27
2023	Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12 A Daneshi, M Garshasbi, M Farhadi, KG Falavarjani, M Vafaee-Shahi, ... BMC Medical Genomics 16 (1), 235
2023	Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a … ES Siavashani, MR Ashrafi, H Ghabeli, M Heidari, M Garshasbi BMC Medical Genomics 16 (1), 226
2023	High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry M Ashrafi, R Kameli, S Hosseinpour, E Razmara, Z Zamani, Z Rezaei, ... neurogenetics, 1-11
2023	Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature MF Mohammadi, A Dehghani, K Zarabadi, SM Kahani, S Sayyad, ... Irish Journal of Medical Science (1971-), 1-8
2023	Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report F Bitarafan, M Khodaeian, F Garrousi, R Khalesi, D Ghazi Nader, B Karimi, ... BMC Endocrine Disorders 23 (1), 155
2023	Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients AZ Dehnavi, M Bemanalizadeh, SM Kahani, MR Ashrafi, M Rohani, ... Orphanet Journal of Rare Diseases 18 (1), 1-18
2023	The genetic landscape and possible therapeutics of neurofibromatosis type 2 MA Ghalavand, A Asghari, M Farhadi, F Taghizadeh-Hesary, M Garshasbi, ... Cancer Cell International 23 (1), 1-27
2023	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 A Dehghani, F Khajepour, M Dehghani, E Razmara, M Zangouey, ...
2023	A biallelic variant in POLR2C is associated with congenital hearing loss and male infertility: Case report F Bitarafan, E Razmara, E Jafarinia, N Almadani, M Garshasbi European Journal of Clinical Investigation 53 (4), e13946
2023	Compound heterozygous variants in SPNS2 cause sensorineural hearing loss S Mardani, N Almadani, M Garshasbi European Journal of Medical Genetics 66 (1), 104658
2022	A biallelic variant in POLR2C is associated with congenital hearing loss and male infertility: Case report F Bitarafan, E Razmara, E Jafarinia, N Almadani, M Garshasbi European Journal of Clinical Investigation, e13946
2022	Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report F Rajabi, AH Bereshneh, M Ramezanzadeh, M Garshasbi BMC pediatrics 22 (1), 1-6
2022	Mutation and phenotypic spectrum of mitochondrial leukodystrophies using whole exome sequencing in a cohort of 41 patients AR Tavasoli, S Hosseinpour, E Razmara, M Heidari, DA Zare, Z Rezaei, ... ANNALS OF NEUROLOGY 92, S192-S193
2022	A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy P Mohammadi, M Heidari, MR Ashrafi, N Mahdieh, M Garshasbi Acta Neurologica Belgica 122 (5), 1201-1210
2022	495 Mutations in different domains of bullous pemphigoid antigen-1 (BPGA1) encoded by DST result in either epidermolysis bullosa simplex or musculoskeletal and neuronal … N Harvey, R Khalesi, M Garshasbi, E Kalamati, L Youssefian, ... Journal of Investigative Dermatology 142 (8), S84
2022	Symptomatic care of late-onset Alexander disease presenting with area postrema-like syndrome with prednisolone; a case report S Zardadi, E Razmara, M Rasoulinezhad, M Babaei, MR Ashrafi, N Pak, ... BMC pediatrics 22 (1), 412
2022	Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN‐VI) R Khalesi, N Harvey, M Garshasbi, E Kalamati, L Youssefian, ... Experimental Dermatology 31 (6), 949-955
2022	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in … MA Gholizadeh, M Mohammadi-Sarband, F Fardanesh, M Garshasbi BMC Medical Genomics 15 (1), 78
2022	Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum E Heidari, AN Harrison, AR Tavasoli, N Almadani, RS Molday, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 266-266
2021	ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants AZ Dehnavi, E Heidari, M Rasulinezhad, M Heidari, MR Ashrafi, ... Human Genomics 15, 1-11
2021	Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family F Bitarafan, M Khodaeian, E Amjadi Sardehaei, FZ Darvishi, N Almadani, ... Molecular and Cellular Pediatrics 8 (1), 1-8
2021	Importance of miR-141-5p and miR-501-5P expression in patients with HBV infection R Lak, R Yaghobi, M Garshasbi Cellular and Molecular Biology 67 (3), 184-189
2021	Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3 P Mohammadi, E Salehi Siavashani, MF Mohammadi, A Bahramy, ... Molecular Genetics & Genomic Medicine 9 (11), e1834
2021	Prevalence and genotype distribution of human papillomavirus infection among 12 076 Iranian women F Bitarafan, MR Hekmat, M Khodaeian, E Razmara, T Ashrafganjoei, ... International Journal of Infectious Diseases 111, 295-302
2021	Defective complex III mitochondrial respiratory chain due to a novel variant in CYC1 gene masquerades acute demyelinating syndrome or Leber hereditary optic neuropathy E Heidari, M Rasoulinezhad, N Pak, MR Ashrafi, M Heidari, B Banwell, ... Mitochondrion 60, 12-20
2021	The oncogenic and tumor suppressive roles of RNA‐binding proteins in human cancers A Bitaraf, E Razmara, B Bakhshinejad, H Yousefi, M Vatanmakanian, ... Journal of cellular physiology 236 (9), 6200-6224
2021	Analysis, quantification, and visualization of RT-LAMP technique for detection of COVID-19 MH Ghazimoradi, M Daryani, M Garshasbi, E Zolghadr, A Khalafizadeh, ... medRxiv, 2021.07. 15.21260528
2021	Crystallographic modeling of the PNPT1: c. 1453A> G variant as a cause of mitochondrial dysfunction and autosomal recessive deafness; expanding the neuroimaging and clinical … AH Bereshneh, Z Rezaei, E Jafarinia, F Rajabi, MR Ashrafi, AR Tavasoli, ... Mitochondrion 59, 1-7
2021	Identification of a novel splice site mutation in RUNX2 gene in a family with rare autosomal dominant cleidocranial dysplasia E Jamali, R Khalesi, F Bitarafan, N Almadani, M Garshasbi Iranian Biomedical Journal 25 (4), 297
2021	A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses N Gilani, E Razmara, M Ozaslan, IK Abdulzahra, S Arzhang, AR Tavasoli, ... Acta Neurologica Belgica 121, 737-748
2021	K-72 Non-invasive prenatal testing (NIPT) challenges in future M Garshasbi International Journal of Reproductive BioMedicine 19 (5), 72-72
2021	Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum E Heidari, AN Harrison, E Jafarinia, AR Tavasoli, N Almadani, RS Molday, ... Human Mutation 42 (5), 491-497
2021	Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report R Khalesi, E Razmara, G Asgaritarghi, AR Tavasoli, Y Riazalhosseini, ... BMC neurology 21 (1), 180
2021	Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay F Bitarafan, M Khodaeian, N Almadani, A Kalhor, EA Sardehaei, ... Fetal and Pediatric Pathology 40 (2), 174-180
2021	Novel Imaging and Clinical Manifestations of Ndmsba Disorder Caused by a Homozygous Missense Variant of Plaa A Dehghani, E Razmara, M Rasoulinezhad, F Bitarafan, AR Tavasoli, ...
2021	Biomarker discovery by imperialist competitive algorithm in mass spectrometry data for ovarian cancer prediction S Pirhadi, K Maghooli, NY Moteghaed, M Garshasbi, SJ Mousavirad Journal of Medical Signals and Sensors 11 (2), 108
2021	A novel metabolic disorder in the degradation pathway of endogenous methanol due to a mutation in the gene of alcohol dehydrogenase M Razzaghy-Azar, M Nourbakhsh, M Vafadar, M Nourbakhsh, S Talebi, ... Clinical Biochemistry 90, 66-72
2021	The identification of two pathogenic variants in a family with mild and severe forms of developmental delay N Miyake, S Heydari, M Garshasbi, S Saitoh, J Nasiri, K Hamanaka, ... Journal of Human Genetics 66 (4), 445-448
2021	A novel missense variant in the LMNB2 gene causes progressive myoclonus epilepsy F Soleimanipour, E Razmara, F Rahbarizadeh, E Fallahi, M Khodaeian, ... Acta Neurologica Belgica, 1-9
2021	Complex III Mitochondrial Leukoencephalopathy Masquerading Acute Demyelinating Syndrome Due to a Novel Variant in CYC1 E Heidari, M Rasoulinezhad, N Pak, MR Ashrafi, M Heidari, B Banwell, ...
2021	Identification of a novel missense c. 386G> A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy P Mohammadi, MA Daneshmand, N Mahdieh, MR Ashrafi, M Heidari, ... Acta Neurologica Belgica 121 (1), 143-151
2021	Distribution of the most common types of HPV in Iranian women with and without cervical cancer Z Farahmand, H Soleimanjahi, M Garshasbi, M Hasanzadeh, E Zafari Women & Health 61 (1), 73-82
2021	Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review S Binaafar, M Garshasbi, AR Tavasoli, RS Badv, SMM Hosseiny, ... Developmental Neuroscience 43 (6), 348-357
2021	Kabuki syndrome: identification of two novel variants in KMT2D and KDM6A M Khodaeian, E Jafarinia, F Bitarafan, S Shafeii, N Almadani, ... Molecular Syndromology 12 (2), 118-126
2020	Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss S Zardadi, E Razmara, G Asgaritarghi, E Jafarinia, F Bitarafan, S Rayat, ... Molecular Genetics & Genomic Medicine 8 (12), e1550
2020	Novel neuroclinical findings of autosomal recessive primary microcephaly 15 in a consanguineous Iranian family E Razmara, H Azimi, AR Tavasoli, E Fallahi, SV Sheida, M Eidi, A Bitaraf, ... European Journal of Medical Genetics 63 (12), 104096
2020	Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next‐generation sequencing F Bitarafan, SY Seyedena, M Mahmoudi, M Garshasbi Journal of Clinical Laboratory Analysis 34 (12), e23544
2020	Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2‐gangliosidoses F Mansouri‐Movahed, F Akhoundi, P Nikpour, M Garshasbi, ... Clinical Case Reports 8 (12), 2583-2591
2020	Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report H Aryan, E Razmara, D Farhud, M Zarif-Yeganeh, S Zokaei, SA Hassani, ... BMC neurology 20 (1), 1-11
2020	A novel locus and candidate gene for familial developmental dyslexia on chromosome 4q T Grimm, M Garshasbi, L Puettmann, W Chen, R Ullmann, ... Zeitschrift für Kinder-und Jugendpsychiatrie und Psychotherapie
2020	A novel variant of ST3GAL3 causes non‐syndromic autosomal recessive intellectual disability in Iranian patients Z Farajollahi, E Razmara, E Heidari, E Jafarinia, M Garshasbi The Journal of Gene Medicine 22 (11), e3253
2020	Identification of novel loss of function variants in MBOAT7 resulting in intellectual disability E Heidari, A Caddeo, K Zarabadi, M Masoudi, AR Tavasoli, S Romeo, ... Genomics 112 (6), 4072-4077
2020	Functional analysis of RELN S2486G mutation and its contribution to pathogenesis of Ankylosing Spondylitis E Esmaeilzadeh-Gharehdaghi, E Razmara, A Bitaraf, A Jamshidi, ... Archives of Iranian medicine 23 (10), 688-696
2020	Leukoencephalopathy in Al‐Raqad syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in DCPS M Masoudi, AH Bereshneh, M Rasoulinezhad, MR Ashrafi, M Garshasbi, ... American journal of medical genetics Part A 182 (10), 2391-2398
2020	A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family A Sepahvand, E Razmara, F Bitarafan, M Galehdari, AR Tavasoli, ... Molecular Genetics & Genomic Medicine 8 (10), e1413
2020	Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome F Bitarafan, E Razmara, M Khodaeian, M Keramatipour, A Kalhor, ... Molecular Genetics & Genomic Medicine 8 (8), e1274
2020	Homozygous in‐frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family E Heidari, E Razmara, S Hosseinpour, AR Tavasoli, M Garshasbi Annals of human genetics 84 (4), 315-323
2020	Identification of GJB2 Variants in 75 Unrelated Iranian Autosomal Recessive Non-syndromic Hearing Loss Patients F Bitarafan, SY Seyedena, M Mahmoudi, M Garshasbi Journal of Human Genetics and Genomics 4 (1)
2020	Evidence of involvement of a novel VUS variant in the CHKB gene to congenital muscular dystrophy affection O Daneshjoo, M Garshasbi, A Pizzuti Meta Gene 24, 100698
2020	Identification of RELN variant p.(Ser2486Gly) in an Iranian family with ankylosing spondylitis; the first association of RELN and AS M Garshasbi, M Mahmoudi, E Razmara, M Vojdanian, S Aslani, E Farhadi, ... European Journal of Human Genetics 28 (6), 754-762
2020	Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review P Rostami, S Hosseinpour, MR Ashrafi, H Alizadeh, M Garshasbi, ... Acta Neurologica Belgica 120, 511-516
2020	Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8 AH Bereshneh, S Hosseipour, MS Rasoulinezhad, N Pak, M Garshasbi, ... European Journal of Medical Genetics 63 (5), 103868
2020	A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family S Binaafar, E Razmara, N Mahdieh, H Sahebjame, AR Tavasoli, ... European Journal of Medical Genetics 63 (5), 103853
2020	Whole‐exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis E Razmara, H Azimi, A Bitaraf, MA Daneshmand, M Galehdari, ... Molecular Genetics & Genomic Medicine 8 (3), e1118
2020	Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population ARS Chaleshtori, M Garshasbi, A Salehi, M Noruzinia European Journal of Medical Genetics 63 (3), 103750
2020	Aberrant expression of a five‐microRNA signature in breast carcinoma as a promising biomarker for diagnosis A Bitaraf, S Babashah, M Garshasbi Journal of clinical laboratory analysis 34 (2), e23063
2020	An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies MR Ashrafi, M Amanat, M Garshasbi, R Kameli, Y Nilipour, M Heidari, ... Expert review of neurotherapeutics 20 (1), 65-84
2020	The identification and stereochemistry analysis of a novel mutation p.(D367Tfs* 61) in the CYP1B1 gene: A case report ARS Chaleshtori, M Garshasbi, A Salehi, M Noruzinia Journal of current ophthalmology 32 (1), 114
2020	Clinical application of cell-free DNA sequencing-based noninvasive prenatal testing for trisomies 21, 18, 13 and sex chromosome aneuploidy in a mixed-risk population in Iran M Garshasbi, Y Wang, SH Zadeh, S Giti, S Piri, MR Hekmat Fetal diagnosis and therapy 47 (3), 220-227
2020	Leukoencephalopathy in RIN2 syndrome: novel mutation and expansion of clinical spectrum R Kameli, MR Ashrafi, F Ehya, H Alizadeh, S Hosseinpour, M Garshasbi, ... European Journal of Medical Genetics 63 (1), 103629
2019	A novel deletion mutation in GUCY2D gene may be responsible for Leber congenital amaurosis-1 disease: A case report ARS Chaleshtori, M Garshasbi, A Salehi Journal of Current Ophthalmology 31 (4), 458-462
2019	RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant R Kameli, M Amanat, Z Rezaei, S Hosseionpour, S Nikbakht, H Alizadeh, ... Orphanet Journal of Rare Diseases 14 (1), 1-7
2019	A novel ISCA2 variant responsible for an early-onset neurodegenerative mitochondrial disorder: a case report of multiple mitochondrial dysfunctions syndrome 4 M Eidi, M Garshasbi BMC neurology 19, 1-7
2019	Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests X Ji, J Li, Y Huang, PL Sung, Y Yuan, Q Liu, Y Chen, J Ju, Y Zhou, ... Genetics in Medicine 21 (10), 2293-2302
2019	Non-coding RNAs in cartilage development: an updated review E Razmara, A Bitaraf, H Yousefi, TH Nguyen, M Garshasbi, WC Cho, ... International journal of molecular sciences 20 (18), 4475
2019	S3440P substitution in C-terminal region of human Reelin dramatically impairs secretion of Reelin from HEK 293T cells E Esmaeilzadeh-Gharehdaghi, E Razmara, A Bitaraf, M Mahmoudi, ... Cellular and Molecular Biology 65 (6), 12-16
2019	Heterozygosity mapping for human dominant trait variants A Imai‐Okazaki, Y Li, S Horpaopan, Y Riazalhosseini, M Garshasbi, ... Human Mutation 40 (7), 996-1004
2019	Genetic implications in the pathogenesis of rheumatoid arthritis; an updated review J Karami, S Aslani, A Jamshidi, M Garshasbi, M Mahmoudi Gene 702, 8-16
2019	Beta-Ketothiolase Deficiency as A Treatable Neurometabolic Disorder: A Case Report Due to A Novel Compound Heterozygote Mutations in ACAT1 Gene P Rostami, R Mohsenipour, R Kameli, MR Ashrafi, AR Tavasoli, ... Biomedical Journal of Scientific & Technical Research 15 (3), 1-4
2019	Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease F Bitarafan, M Garshasbi Journal of Research in Medical Sciences: the Official Journal of Isfahan …
2018	Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report A Hosseini Bereshneh, M Garshasbi Journal of Medical Case Reports 12 (1), 1-9
2018	Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease E Razmara, M Garshasbi BMC Cardiovascular Disorders 18 (1), 1-7
2018	Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report O Daneshjoo, M Garshasbi Journal of Medical Case Reports 12 (1), 1-7
2018	Molecular genetic analysis of PKHD1 mutations in pedigrees with autosomal recessive polycystic kidney disease F Bitarafan, M Garshasbi Iranian journal of kidney diseases 12 (6), 350
2018	Targeted Next-Generation Sequencing identifies two novel CFTR gene mutations in Iranian patients with Cystic Fibrosis AR Bitaraf, F Bitarafan, M Khodaeian, M Garshasbi EUROPEAN JOURNAL OF HUMAN GENETICS 26, 857-857
2018	Evaluation of the association of single nucleotide polymorphisms in DDP4 and CDK5RAP2 genes with rheumatoid arthritis susceptibility in Iranian population Z Malekshahi, M Mahmoudi, M Akhlaghi, M Garshasbi, A Jamshidi, ... Egyptian Journal of Medical Human Genetics 19 (3), 185–189-185–189
2018	Improving Classifcation of Cancer and Mining Biomarkers from Gene Expression Profles Using Hybrid Optimization Algorithms and Fuzzy Support Vector Machine N Yousefi Moteghaed, K Maghooli, M Garshasbi Journal of Medical Signals and Sensors 8 (1)
2018	Association between rs6759298 and Ankylosing Spondylitis in Iranian Population M Mahmoudi, M Garshasbi, A Ashraf-Ganjouei, A Javinani, M Vojdanian, ... Avicenna Journal of Medical Biotechnology 10 (3), 178
2018	The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families E Razmara, F Bitarafan, E Esmaeilzadeh-Gharehdaghi, N Almadani, ... Iranian journal of basic medical sciences 21 (3), 333
2018	Specificity and Sensitivity of NIPT for Prenatal Screening of Down Syndrome in 100 Pregnant Women from Tonekabon, Iran M Akbari, S Mirmazloumi, M Garshasbi, Z Talari, F Sadeghi Med Clin Rev 4 (1), 3
2018	Improving classification of Cancer and mining biomarkers from gene expression profiles using hybrid optimization algorithms and fuzzy support vector machine NY Moteghaed, K Maghooli, M Garshasbi Journal of medical signals and sensors 8 (1), 1
2018	miR-31 and miR-145 as potential non-invasive regulatory biomarkers in patients with endometriosis O Bashti, M Noruzinia, M Garshasbi, M Abtahi Cell journal (Yakhteh) 20 (1), 84
2017	Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia J Inlora, MR Sailani, H Khodadadi, A Teymurinezhad, S Takahashi, ... Molecular Case Studies 3 (6), a002014
2017	Promoter hypermethylation of BCL11B gene correlates with downregulation of gene transcription in ankylosing spondylitis patients J Karami, M Mahmoudi, A Amirzargar, M Gharshasbi, A Jamshidi, ... Genes & Immunity 18 (3), 170-175
2017	Identification of miR-24 and miR-137 as novel candidate multiple sclerosis miRNA biomarkers using multi-staged data analysis protocol F Ehya, HA Tehrani, M Garshasbi, SM Nabavi Molecular biology research communications 6 (3), 127
2017	Isolated congenital anosmia and CNGA2 mutation MR Sailani, I Jingga, SH MirMazlomi, F Bitarafan, JA Bernstein, ... Scientific Reports 7 (1), 1-5
2017	Mutations of the aminoacyl‐tRNA‐synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability L Musante, L Püttmann, K Kahrizi, M Garshasbi, H Hu, H Stehr, ... Human mutation 38 (6), 621-636
2017	Propionic Academia: Exome Sequencing Identified Novel Mutation in Exon 12 of PCCA Gene R Khalesi, M Garshasbi Journal of Medical Cases 8 (4), 111-113
2017	Pharmacogenetics and personalized medicine in pancreatic cancer AH Bereshneh, F Morshedi, M Hematyar, A Kaki, M Garshasbi Acta Medica Iranica, 194-199
2017	Identification of novel mutation in EIF2AK3 gene as a causal variant in a family with rare disease R Khalesi, M Garshasbi Journal of Medical Cases 8 (3), 102-104
2017	PTRHD1 (C2orf79) mutations lead to autosomal‐recessive intellectual disability and parkinsonism H Khodadadi, LJ Azcona, V Aghamollaii, MD Omrani, M Garshasbi, ... Movement Disorders 32 (2), 287-291
2016	Investigation of inherited causes of autosomal recessive non-syndromic epilepsy in an Iranian family using whole exome sequencing method R Khalesi, M Garshasbi, M Tavallaei Journal of Isfahan Medical School 34 (407), 1362-1368
2016	Evaluation of DNMT1 gene expression profile and methylation of its promoter region in patients with ankylosing spondylitis S Aslani, M Mahmoudi, M Garshasbi, AR Jamshidi, J Karami, ... Clinical rheumatology 35, 2723-2731
2016	Lack of association between btb domain and cnc homolog 2 polymorphism and susceptibility to rheumatoid arthritis in Iranian population Z Malekshahi, M Mahmoudi, M Akhlaghi, M Garshasbi, AR Jamshidi, ... Indian Journal of Rheumatology 11 (4), 197
2016	Determination of IL1 R2, ANTXR2, CARD9, and SNAPC4 single nucleotide polymorphisms in Iranian patients with ankylosing spondylitis P Momenzadeh, M Mahmoudi, M Beigy, M Garshasbi, M Vodjdanian, ... Rheumatology international 36, 429-435
2016	Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration Z Iqbal, L Püttmann, L Musante, A Razzaq, MY Zahoor, H Hu, TF Wienker, ... European Journal of Human Genetics 24 (3), 392-399
2016	Noninvasive Prenatal Testing for Trisomy 21, 18, 13 and Sex Chromosomal Aneuploidies–First Report on 1380 Pregnancies from Iran M Garshasbi, MH Esmaeil, MR Hekmat
2016	Association study of AFF1 gene polymorphism (rs340630) with Iranian systemic lupus erythematosus patients. E Arabi, M Garshasbi, AR Jamshidi, R Khalesi, N Ahmadzadeh, ... Acta Reumatológica Portuguesa 41 (1)
2015	Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability A Heidari, C Tongsook, R Najafipour, L Musante, N Vasli, M Garshasbi, ... Human molecular genetics 24 (20), 5697-5710
2015	Double heterozygosity of BRCA2 and STK11 in familial breast cancer detected by exome sequencing M Ataei-Kachouei, J Nadaf, MT Akbari, A Morteza, J Majewski, ... Iranian Journal of Public Health 44 (10), 1348
2015	Biomarker discovery based on hybrid optimization algorithm and artificial neural networks on microarray data for cancer classification NY Moteghaed, K Maghooli, S Pirhadi, M Garshasbi Journal of medical signals and sensors 5 (2), 88
2015	A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability F Larti, K Kahrizi, L Musante, H Hu, E Papari, Z Fattahi, N Bazazzadegan, ... European Journal of Human Genetics 23 (3), 331-336
2015	Prevalence of methylenetetrahydrofolate reductase C677T polymorphism in women with polycystic ovary syndrome in southeast of Iran A Naghavi, H Mozdarani, M Garshasbi, M Yaghmaei Journal of Medicine and Life 8 (Spec Iss 3), 229
2014	Identification of Nucleotide Changes of Two Known Causative Genes (BRCA2 and STK11) of Hereditary Breast Cancer in an Iranian Family using Exome Sequencing M Ataei-Kachouei, J Nadaf, M Atri, J Majewski, Y Riazalhosseini, ... Pathobiology Research 17 (3), 81-91
2014	Application and effectiveness of ontology on e-Health M Garshasbi, H Asadi, A Asosheh 7th International Symposium on Telecommunications (IST2014), 544-549
2014	Identification of a p. Cys33PhefsX36 mutation in an Iranian family withprofound biotinidase deficiency (BTD) P Khalilian, S Khalilian, A Bazrafshan, M Garshasbi Molecular and Biochemical Diagnosis Journal 1 (1), 59-61
2014	Human papillomavirus (HPV) prevalence and types among women attending regular gynecological visit in Tehran, Iran A Yousefzadeh, SM Mostafavizadeh, A Jarollahi, M Raeisi, M Garshasbi, ... Clin Lab 60 (2), 267-73
2014	[Identification of nucleotide changes of two known causative genes [BRCA2 and STK11] of hereditary breast cancer in an Iranian family using exome sequencing] K Mojgan Atae, N Javad, A Morteza, M Jacek, R Yasser, G Masoud
2013	A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family L Püttmann, H Stehr, M Garshasbi, H Hu, K Kahrizi, B Lipkowitz, P Jamali, ... American journal of medical genetics Part A 161 (8), 1915-1922
2013	Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations E Papari, M Bastami, A Farhadi, S Abedini, M Hosseini, I Bahman, ... Clinical Genetics: an international journal of genetics in medicine 83 (5 …
2012	Lia Abbasi-Moheb, Sara Mertel, 3 Melanie Gonsior, 3 Leyla Nouri-Vahid, 2 Kimia Kahrizi, 2 Sebahattin Cirak, 4 Dagmar Wieczorek, 5 M. Mahdi Motazacker, Sahar Esmaeeli-Nieh … H Najmabadi, HH Ropers, SJ Sigrist, AW Kuss The American Journal of Human Genetics 90, 847-855
2012	Mutations in NSUN2 cause autosomal-recessive intellectual disability L Abbasi-Moheb, S Mertel, M Gonsior, L Nouri-Vahid, K Kahrizi, S Cirak, ... The American Journal of Human Genetics 90 (5), 847-855
2012	New kid on the ID block: Neural functions of the Nab2/ZC3H14 class of Cys₃His tandem zinc-finger polyadenosine RNA binding proteins SM Kelly, CH Pak, M Garshasbi, A Kuss, AH Corbett, KH Moberg RNA biology 9 (5), 555-562
2012	Clinical and Molecular Aspects of Sjogren-Larsson Syndrome Reported in an Iranian Consanguineous Family with Triplet Affected Individuals M Hosseini, M Garshasbi, S Hemmati, H Darvish, F Behjati, A Kuss, ... Iranian Red Crescent Medical Journal 14 (3), 153
2011	Deep sequencing reveals 50 novel genes for recessive cognitive disorders H Najmabadi, H Hu, M Garshasbi, T Zemojtel, SS Abedini, W Chen, ... Nature 478 (7367), 57-63
2011	Klaus Wrogemann, 3 Kimia Kahrizi, 4 Andreas Tzschach, Masoumeh Hosseini, 4 Ideh Bahman, 4 Tim Hucho, Martina Mühlenhoff, 2 Rita Gerardy-Schahn, 2 Hossein Najmabadi, 4 H. Hilger … H Hu, K Eggers, W Chen, M Garshasbi, MM Motazacker The American Journal of Human Genetics 89, 407-414
2011	ST3GAL3 mutations impair the development of higher cognitive functions H Hu, K Eggers, W Chen, M Garshasbi, MM Motazacker, K Wrogemann, ... The American Journal of Human Genetics 89 (3), 407-414
2011	A novel nonsense mutation in TUSC3 is responsible for non‐syndromic autosomal recessive mental retardation in a consanguineous Iranian family M Garshasbi, K Kahrizi, M Hosseini, L Nouri Vahid, M Falah, S Hemmati, ... American Journal of Medical Genetics Part A 155 (8), 1976-1980
2011	Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans CH Pak, M Garshasbi, K Kahrizi, C Gross, LH Apponi, JJ Noto, SM Kelly, ... Proceedings of the National Academy of Sciences 108 (30), 12390-12395
2011	Mutations in the alpha 1, 2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability MA Rafiq, AW Kuss, L Puettmann, A Noor, A Ramiah, G Ali, H Hu, ... The American Journal of Human Genetics 89 (1), 176-182
2011	Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP F Ropers, E Derivery, H Hu, M Garshasbi, M Karbasiyan, M Herold, ... Human molecular genetics 20 (13), 2585-2590
2011	Cohen syndrome diagnosis using whole genome arrays M Hempel, N Rivera-Brugués, B Albrecht, D Wieczorek, H Schmidt, ... BMJ Publishing Group Ltd.
2011	Cohen syndrome diagnosis using whole genome arrays N Rivera-Brugués, B Albrecht, D Wieczorek, H Schmidt, T Keller, ... Journal of medical genetics 48 (2), 136-140
2011	Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots AW Kuss, M Garshasbi, K Kahrizi, A Tzschach, F Behjati, H Darvish, ... Human genetics 129, 141-148
2011	INVITED SPEAKERS: I-18: IDENTIFICATION OF OVER 50 NOVEL GENES INVOLVED IN ARID BY HOMOZYGOUSITY MAPPING AND NEXT GENERATION SEQUENCING H NAJMABADI, H HU, M GARSHASBI, T ZEMOJTEL, SS ABEDINI, ... CELL JOURNAL (YAKHTEH) 13 (2), 11-11
2011	Mutation of a Zinc Finger Polyadenosine RNA Binding Protein Causes Autosomal Recessive Intellectual Disability in Humans and Neuronal Dysfunction in a Drosophila Model: A … AH Corbett, C Pak, M Garshasbi, K Kahrizi, C Gross, LH Apponi, JJ Noto, ... MOLECULAR BIOLOGY OF THE CELL 22
2011	Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3 K Kahrizi, CH Hu, M Garshasbi, SS Abedini, S Ghadami, R Kariminejad, ... European Journal of Human Genetics 19 (1), 115-117
2010	Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis B Timmermann, M Kerick, C Roehr, A Fischer, M Isau, ST Boerno, ... PloS one 5 (12), e15661
2010	A clinical and molecular genetic study of 112 Iranian families with primary microcephaly H Darvish, S Esmaeeli-Nieh, GB Monajemi, M Mohseni, ... Journal of medical genetics 47 (12), 823-828
2010	Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3 A Tzschach, H Hu, R Ullmann, M Garshasbi, W Chen, HH Ropers, ... European Journal of Human Genetics
2010	Francesco Emma, 5 Claus Klingenberg, 6 Raoul C. Hennekam, 7, 8 Giuliano Torre, 9 Masoud Garshasbi, Andreas Tzschach, Malgorzata Szczepanska, 10 Marian Krawczynski, 11 Jacek … J Walczak-Sztulpa, J Eggenschwiler, D Osborn, DA Brown The American Journal of Human Genetics 86, 949-956
2010	Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene J Walczak-Sztulpa, J Eggenschwiler, D Osborn, DA Brown, F Emma, ... The American Journal of Human Genetics 86 (6), 949-956
2010	Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function M Trimborn, M Ghani, DJ Walther, M Dopatka, V Dutrannoy, A Busche, ... PloS one 5 (2), e9242
2010	Identification of 31 genomic loci for autosomal recessive mental retardation and molecular genetic characterization of novel causative mutations in four genes M Garshasbi
2009	CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait S Türkmen, G Guo, M Garshasbi, K Hoffmann, AJ Alshalah, C Mischung, ... PLoS genetics 5 (5), e1000487
2009	Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1 W Seifert, M Holder‐Espinasse, J Kühnisch, K Kahrizi, A Tzschach, ... Human mutation 30 (2), E404-E420
2009	An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4 K Kahrizi, H Najmabadi, R Kariminejad, P Jamali, M Malekpour, ... European journal of human genetics 17 (1), 125-128
2008	Alopecia–mental retardation syndrome: clinical and molecular characterization of four patients A Tzschach, B Bozorgmehr, V Hadavi, K Kahrizi, M Garshasbi, ... British Journal of Dermatology 159 (3), 748-751
2008	A defect in the TUSC3 gene is associated with autosomal recessive mental retardation M Garshasbi, V Hadavi, H Habibi, K Kahrizi, R Kariminejad, F Behjati, ... The American Journal of Human Genetics 82 (5), 1158-1164
2008	Farkhondeh Behjati, 2 Andreas Tzschach, Hossein Najmabadi, 2, 3 Hans Hilger Ropers, and Andreas Walter Kuss M Garshasbi, V Hadavi, H Habibi, K Kahrizi, R Kariminejad The American Journal of Human Genetics 82, 1158-1164
2008	Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome LA Moheb, A Tzschach, M Garshasbi, K Kahrizi, H Darvish, Y Heshmati, ... European journal of human genetics 16 (2), 270-273
2007	A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation MM Motazacker, BR Rost, T Hucho, M Garshasbi, K Kahrizi, R Ullmann, ... The American Journal of Human Genetics 81 (4), 792-798
2007	Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci H Najmabadi, MM Motazacker, M Garshasbi, K Kahrizi, A Tzschach, ... Human genetics 121, 43-48
2006	Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy S Dadgar, O Hagens, SR Dadgar, EN Haghighi, S Schimpf, B Wissinger, ... Experimental eye research 83 (3), 702-706
2006	SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly M Garshasbi, MM Motazacker, K Kahrizi, F Behjati, SS Abedini, SE Nieh, ... Human genetics 118, 708-715
2004	Association of the dopamine transporter gene (DAT1) core promoter polymorphism −67T variant with schizophrenia N Khodayari, M Garshasbi, F Fadai, A Rahimi, L Hafizi, A Ebrahimi, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 129 …
2003	The spectrum of alpha-thalassemia mutations in Iran. MGS Abadi, HY Law, M Neishabury, C Oberkanins, K Kahrizi, E Keyhani, ... AMERICAN JOURNAL OF HUMAN GENETICS 73 (5), 412-412
2003	alpha-globin gene deletion and point mutation analysis among in Iranian patients with microcytic hypochromic anemia M Garshasbi, C Oberkanins, HY Law, M Neishabury, R Kariminejad, ... Haematologica 88 (10), 1196-1197
	٢٠١٣. Search for genes that cause familial breast cancer in a number of Iranian families. Ministry of Science MT Akbari, M Garshasbi, M Ataei Research and Technology-Tarbiat Modares University-Faculty of Medical Sciences
	Materials and methods Individuals Participating in this Study E Heidari, AN Harrison, E Jafarinia, AR Tavasoli, N Almadani, RS Molday, ...
	Retraction: Omid Daneshjoo, Pirooz Ebrahimi, Leila B. Salehi, Antonio Pizzuti, Masoud Garshasbi (2020). Identification of a novel RUNX2 gene mutation and early diagnosis of CCD … M Garshasbi
	Three Novel Variants identified in FBN1 and TGFBR2 in 7 Iranian families with suspected Marfan syndrome M Garshasbi Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares …
	Clinical Application of Cell-Free DNA Sequencing-Based Noninvasive Prenatal Testing for Trisomies 21, 18, 13 and Sex Chromosome Aneuploidy in a Mixed-Risk Population in Iran.
	miR-31 and miR-145 as potential non-invasive regulatory biomarkers in patients with endometriosis. Cell J. 2018; 20 (1): 84-89. doi: 10.22074/cellj. 2018.4915 O Bashti, M Noruzinia, M Garshasbi, M Abtahi Introduction Endometriosis is an endometrial inflammatory disease that affects 5
	ALPHA-GLOBIN GENE DELETION AND POINT MUTATION ANALYSIS AMONG MICROCYTIC HYPOCHROMIC ANEMIA PATIENTS IN IRAN M Garshasbi, C Oberkanins, HY Law, M Neishabury, R Kariminejad, ...