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Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Nature (London), 2011-10, Vol.478 (7367), p.57-63

2011

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A Defect in the Ionotropic Glutamate Receptor 6 Gene ( GRIK2) Is Associated with Autosomal Recessive Mental Retardation

American journal of human genetics, 2007-10, Vol.81 (4), p.792-798

2007

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Detection of a rare AXIN2 variant in an Iranian family with hypodontia and oligodontia

Journal of dental research, dental clinics, dental prospects, 2022-01, Vol.16 (2), p.107-111

2022

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

Proceedings of the National Academy of Sciences - PNAS, 2011-07, Vol.108 (30), p.12390-12395

2011

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

European journal of human genetics : EJHG, 2011-01, Vol.19 (1), p.115-117

2011

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Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability

Molecular genetics & genomic medicine, 2020-10, Vol.8 (10), p.e1418-n/a

2020

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Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss

American journal of medical genetics. Part A, 2011-05, Vol.155A (5), p.1202-1211

2011

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Genetics of intellectual disability in consanguineous families

Molecular psychiatry, 2019-07, Vol.24 (7), p.1027-1039

2019

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A critical review of the impact of candidate copy number variants on autism spectrum disorder

Mutation research. Reviews in mutation research, 2024-07, Vol.794, p.108509, Article 108509

2024

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The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran

Hemoglobin, 2023-07, Vol.47 (4), p.1-151

2023

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Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations

Irish journal of medical science, 2022-08, Vol.191 (4), p.1877-1890

2022

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Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population

European journal of medical genetics, 2009-07, Vol.52 (4), p.170-173

2009

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Subcellular relocalization and nuclear redistribution of the RNA methyltransferases TRMT1 and TRMT1L upon neuronal activation

RNA biology, 2021-11, Vol.18 (11), p.1905-1919

2021

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GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability

American journal of medical genetics. Part A, 2019-01, Vol.179 (1), p.13-19

2019

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Screening PAX9 , MSX1 and WNT10A Mutations in 4 Iranian Families with Non-Syndromic Tooth Agenesis

Avicenna journal of medical biotechnology, 2020-10, Vol.12 (4), p.236-240

2020

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Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients

Clinical genetics, 2021-01, Vol.99 (1), p.187-192

2021

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tRNA Methyltransferase Defects and Intellectual Disability

Archives of Iranian medicine, 2018-10, Vol.21 (10), p.478

2018

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Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families

Clinical genetics, 2019-06, Vol.95 (6), p.718-725

2019

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Contribution of Iran in Elucidating the Genetic Causes of Autosomal Recessive Intellectual Disability

Archives of Iranian medicine, 2019-08, Vol.22 (8), p.461

2019

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Association Study of the TREM2 Gene and Identification of a Novel Variant in Exon 2 in Iranian Patients with Late-Onset Alzheimer's Disease

Medical principles and practice, 2015-01, Vol.24 (4), p.351-354

2015

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Carrier Testing in Known Autosomal Recessive Intellectual Disability Genes in an Iranian Healthy Individual Using Exome Sequencing

Archives of Iranian medicine, 2015-10, Vol.18 (10), p.643

2015

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Frequency of α-Globin Gene Triplications and Coinheritance with β-Globin Gene Mutations in the Iranian Population

Hemoglobin, 2018-07, Vol.42 (4), p.252-256

2018

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The modifying effect of Xmn1-HBG2 on thalassemic phenotype is associated with its linked elements in the beta globin locus control region, including the palindromic site at 5′HS4

Blood cells, molecules, & diseases, 2012-01, Vol.48 (1), p.1-5

2012

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders

A Defect in the Ionotropic Glutamate Receptor 6 Gene ( GRIK2) Is Associated with Autosomal Recessive Mental Retardation

Detection of a rare AXIN2 variant in an Iranian family with hypodontia and oligodontia

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

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

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

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

Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss

Genetics of intellectual disability in consanguineous families

A critical review of the impact of candidate copy number variants on autism spectrum disorder

The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran

Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations

Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population

Subcellular relocalization and nuclear redistribution of the RNA methyltransferases TRMT1 and TRMT1L upon neuronal activation

GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability

Screening PAX9 , MSX1 and WNT10A Mutations in 4 Iranian Families with Non-Syndromic Tooth Agenesis

Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients

tRNA Methyltransferase Defects and Intellectual Disability

Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families

Contribution of Iran in Elucidating the Genetic Causes of Autosomal Recessive Intellectual Disability

Association Study of the TREM2 Gene and Identification of a Novel Variant in Exon 2 in Iranian Patients with Late-Onset Alzheimer's Disease

Carrier Testing in Known Autosomal Recessive Intellectual Disability Genes in an Iranian Healthy Individual Using Exome Sequencing

Frequency of α-Globin Gene Triplications and Coinheritance with β-Globin Gene Mutations in the Iranian Population

The modifying effect of Xmn1-HBG2 on thalassemic phenotype is associated with its linked elements in the beta globin locus control region, including the palindromic site at 5′HS4

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