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Two distinct deleterious causative variants in a family with multiple cancer-affected patients

Advanced biomedical research, 2023-01, Vol.12 (1), p.203-203

2023

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A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment

American journal of human genetics, 2012-10, Vol.91 (4), p.636-645

2012

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A novel METTL5 variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review

Journal of genetics, 2023-09, Vol.102 (2), Article 45

2023

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Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature

Journal of human genetics, 2021-10, Vol.66 (10), p.973-981

2021

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Using classification and K-means methods to predict breast cancer recurrence in gene expression data

Journal of medical signals and sensors, 2022-04, Vol.12 (2), p.122-126

2022

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Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome

Endocrine, 2019-11, Vol.66 (2), p.185-191

2019

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JPX and LINC00641 ncRNAs expression in prostate tissue: a case-control study

Research in pharmaceutical sciences, 2021-09, Vol.16 (5), p.493-504

2021

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A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom

Annals of human genetics, 2023-11, Vol.87 (6), p.295-301

2023

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A Novel Homozygous Pathogenic Variant in CYP11B1 in a Female Iranian Patient with 11B Hydroxylase Deficiency

Laboratory medicine, 2023-07, Vol.54 (4), p.439-446

2023

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Identification and Clinical Implications of a Novel MYO15A Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing

Audiology & neurotology, 2019-01, Vol.24 (1), p.25-31

2019

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A Novel Pathogenic Variant in the CABP2 Gene Causes Severe Nonsyndromic Hearing Loss in a Consanguineous Iranian Family

Audiology & neurotology, 2019-11, Vol.24 (5), p.258-263

2019

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Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss

Molecular biology reports, 2020-07, Vol.47 (7), p.5355-5364

2020

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Selection of optimal bioinformatic tools and proper reference for reducing the alignment error in targeted sequencing data

Journal of medical signals and sensors, 2021-01, Vol.11 (1), p.37-44

2021

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Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation

PloS one, 2023-02, Vol.18 (2), p.e0282304-e0282304

2023

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Bisulfite Treatment of CG-Rich Track of Trinucleotide Repeat Expansion Disorder: Make the Sequence Less CG Rich

Advanced biomedical research, 2021-01, Vol.10 (1), p.46-46

2021

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Evidence for expression of promoterless GFP cassette: Is GFP an ideal reporter gene in biotechnology science?

Research in pharmaceutical sciences, 2019-07, Vol.14 (4), p.351-358

2019

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A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23

Audiology & neurotology, 2020, Vol.25 (5), p.258-262

2020

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Homozygosity mapping and direct sequencing identify a novel pathogenic variant in the CISD2 gene in an Iranian Wolfram syndrome family

Acta diabetologica, 2020, Vol.57 (1), p.81-87

2020

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BAT25, ACVR2, and TGFBR2 mononucleotide STR markers: A triplex panel for microsatellite instability testing in colorectal tumors

Advanced biomedical research, 2022-01, Vol.11 (1), p.79-79

2022

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Upregulation of MTOR, RPS6KB1, and EIF4EBP1 in the whole blood samples of Iranian patients with multiple sclerosis compared to healthy controls

Metabolic brain disease, 2020-12, Vol.35 (8), p.1309-1316

2020

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Molecular genetic study in a cohort of Iranian families suspected to maturity-onset diabetes of the young, reveals a recurrent mutation and a high-risk variant in the CEL gene

Advanced biomedical research, 2020-01, Vol.9 (1), p.25-25

2020

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Engineered zinc‐finger nuclease to generate site‐directed modification in the KLF1 gene for fetal hemoglobin induction

Journal of cellular biochemistry, 2019-05, Vol.120 (5), p.8438-8446

2019

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The silencing effect of miR-30a on ITGA4 gene expression in vitro : an approach for gene therapy

Research in pharmaceutical sciences, 2017-12, Vol.12 (6), p.456-464

2017

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Inducing indel mutation in the SOX6 gene by zinc finger nuclease for gamma reactivation: An approach towards gene therapy of beta thalassemia

Journal of cellular biochemistry, 2018-03, Vol.119 (3), p.2512-2519

2018

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A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems

Molecular genetics & genomic medicine, 2024-01, Vol.12 (1), p.e2305-n/a

2024

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Two distinct deleterious causative variants in a family with multiple cancer-affected patients

A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment

A novel METTL5 variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review

Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature

Using classification and K-means methods to predict breast cancer recurrence in gene expression data

Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome

JPX and LINC00641 ncRNAs expression in prostate tissue: a case-control study

A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom

A Novel Homozygous Pathogenic Variant in CYP11B1 in a Female Iranian Patient with 11B Hydroxylase Deficiency

Identification and Clinical Implications of a Novel MYO15A Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing

A Novel Pathogenic Variant in the CABP2 Gene Causes Severe Nonsyndromic Hearing Loss in a Consanguineous Iranian Family

Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss

Selection of optimal bioinformatic tools and proper reference for reducing the alignment error in targeted sequencing data

Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation

Bisulfite Treatment of CG-Rich Track of Trinucleotide Repeat Expansion Disorder: Make the Sequence Less CG Rich

Evidence for expression of promoterless GFP cassette: Is GFP an ideal reporter gene in biotechnology science?

A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23

Homozygosity mapping and direct sequencing identify a novel pathogenic variant in the CISD2 gene in an Iranian Wolfram syndrome family

BAT25, ACVR2, and TGFBR2 mononucleotide STR markers: A triplex panel for microsatellite instability testing in colorectal tumors

Upregulation of MTOR, RPS6KB1, and EIF4EBP1 in the whole blood samples of Iranian patients with multiple sclerosis compared to healthy controls

Molecular genetic study in a cohort of Iranian families suspected to maturity-onset diabetes of the young, reveals a recurrent mutation and a high-risk variant in the CEL gene

Engineered zinc‐finger nuclease to generate site‐directed modification in the KLF1 gene for fetal hemoglobin induction

The silencing effect of miR-30a on ITGA4 gene expression in vitro : an approach for gene therapy

Inducing indel mutation in the SOX6 gene by zinc finger nuclease for gamma reactivation: An approach towards gene therapy of beta thalassemia

A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems

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