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Predicting deleterious missense genetic variants via integrative supervised nonnegative matrix tri-factorization

Scientific reports, 2021-12, Vol.11 (1), p.23747-23747, Article 23747

2021

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

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

2019

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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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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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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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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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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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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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Epigenetics and Common Non Communicable Disease

Primordial Prevention of Non Communicable Disease, 2019-01, Vol.1121, p.7-20

Kelishadi, Roya

2019

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Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature

BMC medical genomics, 2023-10, Vol.16 (1), p.1-239, Article 239

2023

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A novel variant of SLC26A4 and first report of the c.716T>A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss

American journal of otolaryngology, 2018-11, Vol.39 (6), p.719-725

2018

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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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Lynch-like Syndrome and its Molecular Approaches: A Brief Report and Literature Review

Middle East journal of cancer, 2023-04, Vol.14 (2), p.300-308

2023

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The Importance of SNPs at miRNA Binding Sites as Biomarkers of Gastric and Colorectal Cancers: A Systematic Review

Journal of personalized medicine, 2022-03, Vol.12 (3), p.456

2022

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Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation

Journal of cellular biochemistry, 2019-03, Vol.120 (3), p.3367-3372

2019

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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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Genetic study of the BRAF gene reveals new variants and high frequency of the V600E mutation among Iranian ameloblastoma patients

Journal of oral pathology & medicine, 2018-01, Vol.47 (1), p.86-90

2018

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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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X‐linked mental retardation‐hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene

Molecular genetics & genomic medicine, 2022-10, Vol.10 (10), p.e2034-n/a

2022

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Predicting deleterious missense genetic variants via integrative supervised nonnegative matrix tri-factorization

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

Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome

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

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

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

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

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

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

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

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

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

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

Epigenetics and Common Non Communicable Disease

Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature

A novel variant of SLC26A4 and first report of the c.716T>A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss

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

Lynch-like Syndrome and its Molecular Approaches: A Brief Report and Literature Review

The Importance of SNPs at miRNA Binding Sites as Biomarkers of Gastric and Colorectal Cancers: A Systematic Review

Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation

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

Genetic study of the BRAF gene reveals new variants and high frequency of the V600E mutation among Iranian ameloblastoma patients

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

X‐linked mental retardation‐hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene

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