M. Garshasbi

发表

Mutations in NSUN2 cause autosomal-recessive intellectual disability.

Dagmar Wieczorek, Stephan J Sigrist, Kirsten Cremer, 2012, American journal of human genetics.

Somatic Mutation Profiles of MSI and MSS Colorectal Cancer Identified by Whole Exome Next Generation Sequencing and Bioinformatics Analysis

H. Lehrach, M. Lappe, K. Zatloukal, 2010, PloS one.

Clinical and Molecular Aspects of Sjogren-Larsson Syndrome Reported in an Iranian Consanguineous Family with Triplet Affected Individuals

H. Ropers, A. Tzschach, K. Kahrizi, 2012 .

A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family

Navid Almadani, M. Garshasbi, E. Razmara, 2020, Molecular genetics & genomic medicine.

A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q.

M. Nöthen, J. Ott, Wei Chen, 2020, Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie.

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Wei Chen, Reinhard Ullmann, Dagmar Wieczorek, 2011, Nature.

A novel nonsense mutation in TUSC3 is responsible for non‐syndromic autosomal recessive mental retardation in a consanguineous Iranian family

H. Ropers, A. Tzschach, K. Kahrizi, 2011, American journal of medical genetics. Part A.

CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait

P. Robinson, S. Mundlos, C. Mischung, 2009, PLoS genetics.

Identification of 31 genomic loci for autosomal recessive mental retardation and molecular genetic characterization of novel causative mutations in four genes.

M. Garshasbi, 2010 .

Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report

M. Garshasbi, Omid Daneshjoo, 2018, Journal of Medical Case Reports.

Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family

Navid Almadani, M. Garshasbi, Fatemeh Bitarafan, 2021, Molecular and Cellular Pediatrics.

Isolated Congenital Anosmia and CNGA2 Mutation

M. Snyder, J. Bernstein, M. R. Sailani, 2017, Scientific Reports.

Identification of a novel RUNX2 gene mutation and early diagnosis of CCD in a cleidocranial dysplasia suspected Iranian family

A. Pizzuti, M. Garshasbi, L. Salehi, 2020, Clinical case reports.

Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome

M. Keramatipour, M. Garshasbi, E. Razmara, 2020, Molecular genetics & genomic medicine.

S3440P Substitution in C-Terminal Region of Human Reelin Dramatically Impairs Secretion of Reelin from HEK 293T cells.

M. Garshasbi, M. Mahmoudi, E. Esmaeilzadeh-Gharehdaghi, 2019, Cellular and molecular biology.

Establishment of a Mouse Model with Misregulated Chromosome Condensation due to Defective Mcph1 Function

H. Ropers, K. Sperling, D. Schindler, 2010, PloS one.

Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8.

M. Garshasbi, Ali Hosseini Bereshneh, A. Tavasoli, 2020, European journal of medical genetics.

Cohen syndrome diagnosis using whole genome arrays

T. Meitinger, T. Strom, N. Klopp, 2010, Journal of Medical Genetics.

Improving Classification of Cancer and Mining Biomarkers from Gene Expression Profiles Using Hybrid Optimization Algorithms and Fuzzy Support Vector Machine

M. Garshasbi, K. Maghooli, N. Y. Moteghaed, 2018, Journal of medical signals and sensors.

Aberrant expression of a five‐microRNA signature in breast carcinoma as a promising biomarker for diagnosis

M. Garshasbi, S. Babashah, A. Bitaraf, 2019, Journal of clinical laboratory analysis.

Whole‐exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis

M. Garshasbi, E. Esmaeilzadeh-Gharehdaghi, E. Razmara, 2020, Molecular genetics & genomic medicine.

Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease

M. Garshasbi, Fatemeh Bitarafan, 2019, Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences.

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

M. Garshasbi, A. Tavasoli, P. Rostami, 2019, Acta Neurologica Belgica.

Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene

M. Garshasbi, M. Gholizadeh, Mina Mohammadi-Sarband, 2021, BMC Medical Genomics.

Distribution of the most common types of HPV in Iranian women with and without cervical cancer

Ehsan Zafari, M. Garshasbi, H. Soleimanjahi, 2020, Women & health.

Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family

Navid Almadani, M. Garshasbi, Fatemeh Bitarafan, 2020, Molecular and Cellular Pediatrics.

Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy

M. Garshasbi, N. Mahdieh, Pouria Mohammadi, 2020, Acta Neurologica Belgica.

Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report

M. Garshasbi, D. Farhud, Shaghayegh Zokaei, 2020, BMC Neurology.

Evaluation of the association of single nucleotide polymorphisms in DDP4 and CDK5RAP2 genes with rheumatoid arthritis susceptibility in Iranian population

Ali Jamshidi, M. Garshasbi, S. Mostafaei, 2018, Egyptian Journal of Medical Human Genetics.

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1

D. Horn, K. Dahan, M. Holder-Espinasse, 2009, Human mutation.

The identification of two pathogenic variants in a family with mild and severe forms of developmental delay

A. Takata, N. Matsumoto, S. Saitoh, 2020, Journal of human genetics.

Symptomatic care of late-onset Alexander disease presenting with area postrema-like syndrome with prednisolone; a case report

M. Garshasbi, E. Razmara, A. Tavasoli, 2022, BMC Pediatrics.

A novel ISCA2 variant responsible for an early-onset neurodegenerative mitochondrial disorder: a case report of multiple mitochondrial dysfunctions syndrome 4

M. Garshasbi, Milad Eidi, 2019, BMC Neurology.

Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2‐gangliosidoses

F. Akhoundi, M. Emadi-Baygi, M. Garshasbi, 2020, Clinical case reports.

Biomarker Discovery by Imperialist Competitive Algorithm in Mass Spectrometry Data for Ovarian Cancer Prediction

S. J. Mousavirad, M. Garshasbi, K. Maghooli, 2021, Journal of medical signals and sensors.

Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report

M. Garshasbi, Mahboubeh Ramezanzadeh, Ali Hosseini Bereshneh, 2022, BMC Pediatrics.

Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum.

M. Garshasbi, A. Tavasoli, H. Alizadeh, 2019, European journal of medical genetics.

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

L. Vissers, R. Pfundt, T. Wienker, 2015, European Journal of Human Genetics.

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss

Navid Almadani, M. Garshasbi, E. Razmara, 2020, Molecular genetics & genomic medicine.

A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family.

M. Garshasbi, N. Mahdieh, E. Razmara, 2020, European journal of medical genetics.

The Identification and Stereochemistry Analysis of a Novel Mutation p.(D367Tfs*61) in the CYP1B1 Gene: A Case Report

M. Garshasbi, M. Noruzinia, A. Salehi, 2019, Journal of current ophthalmology.

A novel deletion mutation in GUCY2D gene may be responsible for Leber congenital amaurosis-1 disease: A case report

M. Garshasbi, A. Salehi, Ahmad Reza Salehi Chaleshtori, 2019, Journal of current ophthalmology.

Association of the dopamine transporter gene (DAT1) core promoter polymorphism −67T variant with schizophrenia

H. Najmabadi, M. Garshasbi, M. Ohadi, 2004, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots

H. Ropers, D. Wieczorek, A. Tzschach, 2011, Human Genetics.

Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy.

M. Garshasbi, B. Wissinger, Olivier Hagens, 2006, Experimental eye research.

Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia

Ebrahim Jamali, Navid Almadani, M. Garshasbi, 2020, Iranian biomedical journal.

Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia.

Ebrahim Jamali, Navid Almadani, M. Garshasbi, 2020, Iranian biomedical journal.

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome

H. Ropers, A. Tzschach, K. Kahrizi, 2008, European Journal of Human Genetics.

Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum

R. Molday, Navid Almadani, M. Garshasbi, 2021, Human mutation.

Importance of miR-141-5p and miR-501-5P expression in patients with HBV infection.

M. Garshasbi, R. Yaghobi, Ramin Lak, 2021, Cellular and molecular biology.

Novel neuroclinical findings of autosomal recessive primary microcephaly 15 in a Consanguineous Iranian family.

M. Garshasbi, Zahra Farjami, E. Razmara, 2020, European journal of medical genetics.

The identification of two pathogenic variants in a family with mild and severe forms of developmental delay

A. Takata, N. Matsumoto, S. Saitoh, 2020, Journal of Human Genetics.

P Substitution in C-Terminal Region of Human Reelin Dramatically Impairs Secretion of Reelin from HEK 293 T Cells

M. Garshasbi, M. Mahmoudi, E. Esmaeilzadeh-Gharehdaghi, 2019 .

Compound heterozygous variants in SPNS2 cause sensorineural hearing loss.

Navid Almadani, M. Garshasbi, Saba Mardani, 2022, European journal of medical genetics.

Evaluation of DNMT1 gene expression profile and methylation of its promoter region in patients with ankylosing spondylitis

M. Garshasbi, M. Mahmoudi, A. Jamshidi, 2016, Clinical Rheumatology.

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, Yicong Wang, S. Piri, 2019, Fetal Diagnosis and Therapy.

Identification of a p.Cys33PhefsX36 mutation in an Iranian family withprofound biotinidase deficiency (BTD)

S. Khalilian, M. Garshasbi, Alisina Bazrafshan, 2014 .

Improving Classification of Cancer and Mining Biomarkers from Gene Expression Profiles Using Hybrid Optimization Algorithms and Fuzzy Support Vector Machine

Keivan Maghooli, Niloofar Yousefi Moteghaed, Masoud Garshasbi, 2018, Journal of medical signals and sensors.

Genetic implications in the pathogenesis of rheumatoid arthritis; an updated review.

M. Garshasbi, M. Mahmoudi, A. Jamshidi, 2019, Gene.

Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

A. Noor, J. Vincent, R. Weksberg, 2011, American journal of human genetics.

Non-Coding RNAs in Cartilage Development: An Updated Review

W. Cho, M. Garshasbi, Hassan Yousefi, 2019, International journal of molecular sciences.

A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses

M. Garshasbi, M. Ozaslan, E. Razmara, 2021, Acta Neurologica Belgica.

Identification of RELN variant p.(Ser2486Gly) in an Iranian family with ankylosing spondylitis; the first association of RELN and AS

M. Garshasbi, A. Kuss, L. Jensen, 2020, European Journal of Human Genetics.

Heterozygosity mapping for human dominant trait variants

J. Ott, S. Leal, M. Lathrop, 2019, Human Mutation.

M. Garshasbi, A. Tavasoli, M. Ashrafi, 2021, Human genomics.

Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report

Y. Riazalhosseini, M. Garshasbi, D. Auld, 2021, BMC Neurology.

A novel missense variant in the LMNB2 gene causes progressive myoclonus epilepsy

F. Rahbarizadeh, M. Garshasbi, E. Razmara, 2021, Acta Neurologica Belgica.

Kabuki Syndrome: Identification of Two Novel Variants in KMT2D and KDM6A

Navid Almadani, M. Garshasbi, Fatemeh Bitarafan, 2021, Molecular Syndromology.

The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families

Navid Almadani, M. Garshasbi, E. Esmaeilzadeh-Gharehdaghi, 2018, Iranian journal of basic medical sciences.

Mutations of the aminoacyl‐tRNA‐synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

T. Wienker, H. Stehr, H. Ropers, 2017, Human mutation.

A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family

H. Stehr, H. Ropers, A. Tzschach, 2013, American journal of medical genetics. Part A.

ST3GAL3 mutations impair the development of higher cognitive functions.

Wei Chen, H. Ropers, A. Tzschach, 2011, American journal of human genetics.

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

E. Derivery, A. Gautreau, K. Sperling, 2011, Human molecular genetics.

The oncogenic and tumor suppressive roles of RNA‐binding proteins in human cancers

W. Cho, Babak Bakhshinejad, M. Garshasbi, 2021, Journal of cellular physiology.

A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q.

M. Nöthen, J. Ott, Wei Chen, 2020, Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie.

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

M. Garshasbi, Ali Hosseini Bereshneh, 2018, Journal of Medical Case Reports.

miR-31 and miR-145 as Potential Non-Invasive Regulatory Biomarkers in Patients with Endometriosis

M. Garshasbi, M. Noruzinia, M. Abtahi, 2018, Cell journal.

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci

Wei Chen, S. Lenzner, H. Ropers, 2007, Human Genetics.

Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease

M. Garshasbi, E. Razmara, 2018, BMC Cardiovascular Disorders.

RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant

M. Garshasbi, Z. Rezaei, A. Tavasoli, 2019, Orphanet Journal of Rare Diseases.

Functional Analysis of RELN S2486G Mutation and its Contribution to Pathogenesis of Ankylosing Spondylitis.

M. Garshasbi, M. Mahmoudi, A. Jamshidi, 2020, Archives of Iranian medicine.

Isolated Congenital Anosmia and CNGA2 Mutation

M. Snyder, J. Bernstein, M. R. Sailani, 2017, Scientific Reports.

Prevalence of Methylenetetrahydrofolate Reductase C677T Polymorphism in women with Polycystic Ovary Syndrome in southeast of Iran

M. Yaghmaei, H. Mozdarani, M. Garshasbi, 2015, Journal of medicine and life.

A novel variant of ST3GAL3 causes non‐syndromic autosomal recessive intellectual disability in Iranian patients

M. Garshasbi, E. Razmara, Zahra Farajollahi, 2020, The journal of gene medicine.

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

T. Wienker, N. Galjart, H. Ropers, 2014, European Journal of Human Genetics.

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.

R. Hennekam, A. Latos-Bieleńska, H. Ropers, 2010, American journal of human genetics.

PTRHD1 (C2orf79) mutations lead to autosomal‐recessive intellectual disability and parkinsonism

C. Paisán-Ruiz, M. Omrani, M. Garshasbi, 2017, Movement disorders : official journal of the Movement Disorder Society.

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies

M. Garshasbi, Z. Rezaei, A. Tavasoli, 2019, Expert review of neurotherapeutics.

Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next‐generation sequencing

M. Garshasbi, M. Mahmoudi, Fatemeh Bitarafan, 2020, Journal of clinical laboratory analysis.

Human papillomavirus (HPV) prevalence and types among women attending regular gynecological visit in Tehran, Iran.

M. Garshasbi, Bahram Moazzami, A. Yousefzadeh, 2014, Clinical laboratory.

Evidence of involvement of a novel VUS variant in the CHKB gene to congenital muscular dystrophy affection

A. Pizzuti, M. Garshasbi, Omid Daneshjoo, 2020, Meta Gene.

Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans

Seth M. Kelly, H. Ropers, K. Moberg, 2011, Proceedings of the National Academy of Sciences.

A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.

H. Ropers, A. Tzschach, K. Kahrizi, 2008, American journal of human genetics.

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.

Benjamin R. Rost, H. Ropers, D. Schmitz, 2007, American journal of human genetics.

Prevalence and Genotype Distribution of Human Papillomavirus Infection among 12,076 Iranian Women.

M. Garshasbi, S. Sarmadi, E. Razmara, 2021, International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases.

Association between rs6759298 and Ankylosing Spondylitis in Iranian Population

M. Garshasbi, M. Mahmoudi, A. Jamshidi, 2018, Avicenna journal of medical biotechnology.

Determination of IL1R2, ANTXR2, CARD9, and SNAPC4 single nucleotide polymorphisms in Iranian patients with ankylosing spondylitis

M. Garshasbi, A. Farazmand, M. Mahmoudi, 2016, Rheumatology International.

New kid on the ID block

Seth M. Kelly, K. Moberg, A. Corbett, 2012, RNA Biology.

A novel metabolic disorder in the degradation pathway of endogenous methanol due to a mutation in the gene of alcohol dehydrogenase.

M. Nourbakhsh, M. Garshasbi, A. Sharifi-Zarchi, 2021, Clinical biochemistry.

Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN‐VI)

J. Uitto, M. Garshasbi, H. Vahidnezhad, 2022, Experimental dermatology.

A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy

M. Garshasbi, N. Mahdieh, Pouria Mohammadi, 2021, Acta Neurologica Belgica.

Identification of novel loss of function variants in MBOAT7 resulting in intellectual disability.

M. Garshasbi, S. Romeo, A. Tavasoli, 2020, Genomics.

Double Heterozygosity of BRCA2 and STK11 in Familial Breast Cancer Detected by Exome Sequencing

J. Nadaf, J. Majewski, Y. Riazalhosseini, 2015, Iranian journal of public health.

Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3

Navid Almadani, M. Garshasbi, Pouria Mohammadi, 2021, Molecular genetics & genomic medicine.

Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests

Tengyu Ma, Huanming Yang, Jian Wang, 2019, Genetics in Medicine.

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4

H. Ropers, A. Tzschach, K. Kahrizi, 2009, European Journal of Human Genetics.

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

Wei Chen, A. Tzschach, R. Ullmann, 2011, European Journal of Human Genetics.

Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay

Navid Almadani, M. Garshasbi, Fatemeh Bitarafan, 2019, Fetal and pediatric pathology.

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.

J. Vincent, H. Stehr, H. Ropers, 2015, Human molecular genetics.

Identification of GJB2 Variants in 75 Unrelated Iranian Autosomal Recessive Non-Syndromic Hearing Loss Patients

M. Garshasbi, M. Mahmoudi, Fatemeh Bitarafan, 2022, Journal of Human Genetics and Genomics.

Crystallographic Modeling of the PNPT1:c.1453A>G Variant as a Cause of Mitochondrial Dysfunction and Autosomal Recessive Deafness; Expanding the Neuroimaging and Clinical Features.

M. Garshasbi, F. Rajabi, Z. Rezaei, 2021, Mitochondrion.

Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations

A. Farhadi, H. Ropers, K. Kahrizi, 2013, Clinical genetics.

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly

H. Ropers, A. Tzschach, K. Kahrizi, 2010, Journal of Medical Genetics.

A biallelic variant in POLR2C is associated with congenital hearing loss and male infertility: Case report

Navid Almadani, M. Garshasbi, E. Razmara, 2022, European journal of clinical investigation.

Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population.

M. Garshasbi, M. Noruzinia, A. Salehi, 2020, European journal of medical genetics.

Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests

Huanming Yang, Jian Wang, J. Cigudosa, 2019, Genetics in Medicine.

The genetic landscape and possible therapeutics of neurofibromatosis type 2

M. Farhadi, M. Garshasbi, Masoumeh Falah, 2023, Cancer Cell International.

Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia

Michael P Snyder, Masoud Garshasbi, M. Snyder, 2017, Cold Spring Harbor molecular case studies.

Identification of Novel Mutation in EIF2AK3 Gene as a Causal Variant in a Family With Rare Disease

M. Garshasbi, R. Khalesi, 2017 .

Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report

M. Garshasbi, Fatemeh Bitarafan, Mehrnoosh Khodaeian, 2023, BMC Endocrine Disorders.

Pharmacogenetics and Personalized Medicine in Pancreatic Cancer.

M. Garshasbi, F. Morshedi, A. Kaki, 2017, Acta medica Iranica.

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

S. Lenzner, H. Ropers, F. Rüschendorf, 2006, Human Genetics.

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

T. Wienker, N. Galjart, H. Ropers, 2015, European Journal of Human Genetics.

Specificity and Sensitivity of NIPT for Prenatal Screening of Down Syndrome in 100 Pregnant Women from Tonekabon, Iran

M. Akbari, M. Garshasbi, F. Sadeghi, 2018 .

Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature.

M. Garshasbi, A. Tavasoli, Pouria Mohammadi, 2023, Irish journal of medical science.

Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

R. Hennekam, A. Latos-Bieleńska, H. Ropers, 2022 .

Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy

M. Garshasbi, N. Mahdieh, Pouria Mohammadi, 2020, Acta Neurologica Belgica.

Leukoencephalopathy in Al‐Raqad syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in DCPS

M. Garshasbi, Ali Hosseini Bereshneh, A. Tavasoli, 2020, American journal of medical genetics. Part A.

Beta-Ketothiolase Deficiency as A Treatable Neurometabolic Disorder: A Case Report Due to A Novel Compound Heterozygote Mutations in ACAT1 Gene

M. Garshasbi, A. Tavasoli, P. Rostami, 2019, Biomedical Journal of Scientific & Technical Research.

Propionic Academia: Exome Sequencing Identified Novel Mutation in Exon 12 of PCCA Gene

M. Garshasbi, R. Khalesi, 2017 .

Complex III Mitochondrial Leukoencephalopathy Masquerading Acute Demyelinating Syndrome Due to a Novel Variant in CYC1

B. Banwell, M. Garshasbi, A. Tavasoli, 2021 .

Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients

M. Garshasbi, Shaghayegh Zokaei, M. Rohani, 2023, Orphanet Journal of Rare Diseases.

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

M. Garshasbi, M. Ashrafi, Homa Ghabeli, 2023, BMC Medical Genomics.

Identification of miR-24 and miR-137 as novel candidate multiple sclerosis miRNA biomarkers using multi-staged data analysis protocol

M. Garshasbi, S. Nabavi, F. Ehya, 2017, Molecular biology research communications.

Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review

Debopam Samanta, M. Garshasbi, N. Mahdieh, 2021, Developmental Neuroscience.

Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers

Seyed Mohammad Salar Zaheryani, M. Garshasbi, Pouria Mohammadi, 2023, Clinical case reports.

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

M. Garshasbi, E. Razmara, S. Dabiri, 2024, BMC infectious diseases.

Cell-free fetal DNA (cffDNA) extraction from whole blood by using a fully automatic centrifugal microfluidic device based on displacement of magnetic silica beads.

M. Garshasbi, M. Saadatmand, Ali Hatami, 2023, Talanta.

The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population

M. Synofzik, S. Zuchner, M. Garshasbi, 2024, Human genomics.

Human Mutation

Y. Mossé, Y. Riazalhosseini, M. Garshasbi, 2019 .

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

M. Garshasbi, M. Ozaslan, Fatemeh Bitarafan, 2024, Molecular genetics & genomic medicine.

Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry

M. Garshasbi, Ali Hosseini Bereshneh, M. Rohani, 2023, neurogenetics.

High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry

M. Barzegar, M. Garshasbi, Ali Hosseini Bereshneh, 2023, neurogenetics.