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Novel variants in Iranian individuals suspected to have inherited red blood cell disorders, including bone marrow failure syndromes

Haematologica (Roma), 2020-01, Vol.105 (1), p.e1

2020

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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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Bi‐allelic loss of function variant in the NRCAM gene is associated with motor‐predominant axonal polyneuropathy; the second report

Molecular genetics & genomic medicine, 2023-04, Vol.11 (4), p.e2131-n/a

2023

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A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran

American journal of medical genetics. Part A, 2012-10, Vol.158A (10), p.2485-2492

2012

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Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population

American journal of medical genetics. Part A, 2012-08, Vol.158A (8), p.1857-1864

2012

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

European journal of human genetics : EJHG, 2016-03, Vol.24 (3), p.392-399

2016

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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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Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period

Iranian journal of public health, 2019-10, Vol.48 (10), p.1910-1915

2019

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Prospects of third-generation femtosecond laser technology in biological spectromicroscopy

Journal of optics (2010), 2018-05, Vol.20 (5), p.54005

2018

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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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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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Expanding the Molecular Spectrum of HK1 -Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran

Archives of Iranian medicine, 2023-05, Vol.26 (5), p.279-284

2023

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Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort

Archives of Iranian medicine, 2023-04, Vol.26 (4), p.186-197

2023

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Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>A

Biochemical genetics, 2024-02

2024

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ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences

Brain (London, England : 1878), 2022-07, Vol.145 (7), p.2602-2616

2022

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SZT2 mutation in a boy with intellectual disability, seizures and autistic features

European journal of medical genetics, 2019-09, Vol.62 (9), p.103556-103556, Article 103556

2019

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Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase Spectrum of Autoinflammatory Skin Phenotypes

Journal of investigative dermatology, 2016-06, Vol.136 (6), p.1283-1286

2016

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Genetic Analysis of 27 Y-STR Haplotypes in 11 Iranian Ethnic Groups

Archives of Iranian medicine, 2024-02, Vol.27 (2), p.79-88

2024

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Novel variants in Iranian individuals suspected to have inherited red blood cell disorders, including bone marrow failure syndromes

Distinct genetic variation and heterogeneity of the Iranian population

Effect of inbreeding on intellectual disability revisited by trio sequencing

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

Bi‐allelic loss of function variant in the NRCAM gene is associated with motor‐predominant axonal polyneuropathy; the second report

A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran

Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population

P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders

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

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

Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period

Prospects of third-generation femtosecond laser technology in biological spectromicroscopy

Iranome: A catalog of genomic variations in the Iranian population

Genetics of intellectual disability in consanguineous families

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Expanding the Molecular Spectrum of HK1 -Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran

Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort

Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>A

ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences

SZT2 mutation in a boy with intellectual disability, seizures and autistic features

Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase Spectrum of Autoinflammatory Skin Phenotypes

Genetic Analysis of 27 Y-STR Haplotypes in 11 Iranian Ethnic Groups

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