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Genetics of non-syndromic hearing loss in the Middle East

International journal of pediatric otorhinolaryngology, 2014-12, Vol.78 (12), p.2026-2036

2014

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Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities

Scientific reports, 2021-03, Vol.11 (1), p.6952-6952, Article 6952

2021

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Whole-Transcriptome Analysis Reveals Dysregulation of Actin-Cytoskeleton Pathway in Intellectual Disability Patients

Neuroscience, 2019-04, Vol.404, p.423-444

2019

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The First Case of BENTA Disease (B Cell Expansion with NF-κB and T Cell Anergy) from Iran

Journal of clinical immunology, 2021-05, Vol.41 (4), p.811-813

2021

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Identification of microRNAs associated with human fragile X syndrome using next-generation sequencing

Scientific reports, 2022-03, Vol.12 (1), p.5011-5011, Article 5011

2022

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Genetic etiology of hearing loss in Iran

Human genetics, 2022-04, Vol.141 (3-4), p.623-631

2022

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Exonic mutations and exon skipping: Lessons learned from DFNA5

Human mutation, 2018-03, Vol.39 (3), p.433-440

2018

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Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery

BMC medical genomics, 2022-04, Vol.15 (1), p.89-89, Article 89

2022

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The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia

Journal of assisted reproduction and genetics, 2020-02, Vol.37 (2), p.451-458

2020

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The liver-derived exosomes stimulate insulin gene expression in pancreatic beta cells under condition of insulin resistance

Frontiers in endocrinology (Lausanne), 2023, Vol.14, p.1303930-1303930

2023

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The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

PloS one, 2015-08, Vol.10 (8), p.e0129631-e0129631

2015

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Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

Translational psychiatry, 2021-01, Vol.11 (1), p.1-1, Article 1

2021

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Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes

Journal of human genetics, 2014-07, Vol.59 (7), p.368-375

2014

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When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS)

Journal of human genetics, 2020-07, Vol.65 (7), p.609-617

2020

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Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing

Blood cells, molecules, & diseases, 2018-07, Vol.71, p.39-44

2018

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Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein

American journal of human genetics, 2009-04, Vol.84 (4), p.505-510

2009

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CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

EMBO molecular medicine, 2017-12, Vol.9 (12), p.1711-1731

2017

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The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype

Journal of molecular medicine (Berlin, Germany), 2021-12, Vol.99 (12), p.1755-1768

2021

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Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review

Molecular genetics & genomic medicine, 2023-05, Vol.11 (5), p.e2168-n/a

2023

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Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype

Journal of molecular medicine (Berlin, Germany), 2021-12, Vol.99 (12), p.1769-1770

2021

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Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients

Molecular genetics & genomic medicine, 2022-04, Vol.10 (4), p.e1894-n/a

2022

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ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

American journal of human genetics, 2011-09, Vol.89 (3), p.407-414

2011

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Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans

American journal of human genetics, 2009-09, Vol.85 (3), p.328-337

2009

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PDZD7 and hearing loss: More than just a modifier

American journal of medical genetics. Part A, 2015-12, Vol.167A (12), p.2957-2965

2015

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Genetics of non-syndromic hearing loss in the Middle East

Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities

Whole-Transcriptome Analysis Reveals Dysregulation of Actin-Cytoskeleton Pathway in Intellectual Disability Patients

The First Case of BENTA Disease (B Cell Expansion with NF-κB and T Cell Anergy) from Iran

Identification of microRNAs associated with human fragile X syndrome using next-generation sequencing

Genetic etiology of hearing loss in Iran

Exonic mutations and exon skipping: Lessons learned from DFNA5

Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery

Distinct genetic variation and heterogeneity of the Iranian population

The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia

The liver-derived exosomes stimulate insulin gene expression in pancreatic beta cells under condition of insulin resistance

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes

When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS)

Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing

Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype

Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review

Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype

Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients

ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans

PDZD7 and hearing loss: More than just a modifier

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