List of works - Kimia Kahrizi

A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly

scientific article published on January 2013

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

scientific article published on 26 October 2010

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

scientific article published on 17 August 2012

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

scientific article

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

article

A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.

scientific article published on April 2009

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

scientific article

A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.

scientific article published on 4 July 2013

A novel DFNA5 mutation does not cause hearing loss in an Iranian family.

scientific article

A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus.

scientific article

A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II.

scientific article

A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.

scientific article

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

scientific article

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

scientific article published on 7 December 2015

Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients.

scientific article published on 4 July 2008

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.

scientific article

Association of polymorphisms at LDLR locus with coronary artery disease independently from lipid profile.

scientific article published in January 2014

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

scientific article published on 10 November 2010

BOD1 Is Required for Cognitive Function in Humans and Drosophila.

scientific article

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans

scientific article published on 01 September 2018

CDC14A Phosphatase is Essential for Hearing and Male Fertility in Mouse and Human.

scientific article published on 23 December 2017

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

scientific article published on 30 October 2017

CTG expansion & haplotype analysis in DM1 gene in healthy Iranian population.

scientific article published in May 2008

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

scientific article published in October 2015

Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population.

scientific article

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran

scientific article

Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages.

scientific article published on April 2011

Comprehensive Genotype-Phenotype Correlation in AP-4 Deficiency Syndrome; Adding Data from a Large Cohort of Iranian Patients

scientific article published on 07 September 2020

Correction: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

scientific article published in PLoS ONE

Correlation between distribution of muscle weakness, electrophysiological findings and CTG expansion in myotonic dystrophy

scientific article published on 18 November 2013

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

scientific article published on 23 August 2016

Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia

scientific article published on October 2015

Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran

scientific article published on 24 March 2021

Exonic mutations and exon skipping: Lessons learned from DFNA5.

scientific article published on 19 December 2017

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

scientific article published on February 2009

Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population.

scientific article published on 3 December 2014

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

scientific article published on 8 April 2009

G130V de novo mutation in an Iranian pedigree with nonsyndromic hearing loss without palmoplantar keratoderma

scientific article published on 26 July 2019

GJB2 mutations: passage through Iran

scientific article published on 01 March 2005

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

scientific article published on 14 December 2018

Genetic Investigation of an Iranian Supercentenarian by Whole Exome Sequencing.

scientific article published on October 2015

Genetic male infertility and mutation of CATSPER ion channels.

scientific article

Genetics of intellectual disability in consanguineous families

scientific article published on 4 January 2018

Genetics of non-syndromic hearing loss in the Middle East.

scientific article published on 04 September 2014

Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation

scientific article published on 12 January 2018

Hb Dhonburi (Neapolis) [beta126(H4)Val-->Gly] identified in a family from northern Iran

scientific article published on 01 January 2004

High prevalence of the -alpha3.7 deletion among thalassemia patients in Iran

scientific article published on 01 February 2003

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

scientific article published on 21 November 2006

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

scientific article published on 17 August 2017

Homozygous variants in the gene SCAPER cause syndromic intellectual disability

scientific article published on 09 May 2019

Human male infertility caused by mutations in the CATSPER1 channel protein

scientific article

Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation

scientific article published on 05 October 2013

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

scientific article published on 24 September 2008

Identification of a founder mutation for Pendred syndrome in families from northwest Iran

scientific article published in September 2014

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

scientific article published on 14 May 2019

Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation

scientific article

Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.

scientific article

Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa

scientific article published in November 2015

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population

scientific article published on 28 May 2016

Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.

scientific article

Interstitial deletion of the short arm of chromosome 10 del(10)(p11.2p12.32) in a patient with congenital heart disease, minor dysmorphism, and mental retardation

scientific article published on 01 December 2008

Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families.

scientific article published in December 2014

LGMD2E is the most common type of sarcoglycanopathies in the Iranian population

scientific article published on 7 July 2017

M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism.

scientific article published on 12 July 2008

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

scientific article

Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum

scientific article published on 01 July 2020

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

scientific article

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

scientific article published on 22 May 2014

Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans

scientific article

Mutations in NSUN2 cause autosomal-recessive intellectual disability.

scientific article

Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.

scientific article

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

article

Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

scientific article

Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.

scientific article

New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families.

scientific article published in March 2015

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

scientific article

Novel mutations in MYTH4-FERM domains of myosin 15 are associated with autosomal recessive nonsyndromic hearing loss

scientific article published on 23 November 2018

Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment

scientific article published on 27 April 2018

PDZD7 and hearing loss: More than just a modifier

scientific article (publication date: December 2015)

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

scientific article published on 17 February 2022

Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.

scientific article

Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy.

scientific article published in January 2015

Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.

scientific article published on 15 February 2016

SLC52A2 mutations cause SCABD2 phenotype: A second report

scientific article

ST3GAL3 mutations impair the development of higher cognitive functions.

scientific article

Sensorineural deafness and male infertility: a contiguous gene deletion syndrome

scientific article published on 10 November 2006

Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.

scientific article

Serotonin Transporter Polymorphism (5-HTTLPR) and Citalopram Effectiveness in Iranian Patients with Major Depressive Disorder

scientific article published on June 2013

Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.

scientific article published on 14 December 2011

The Iranian Human Mutation Gene Bank: a data and sample resource for worldwide collaborative genetics research.

scientific article

The Iranian human mutation database

scientific article published on 01 July 2007

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

scientific article published on 26 August 2015

The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia.

scientific article

The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12 -related disorders

scientific article published on 09 August 2018

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

scientific article published on 11 April 2011

Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families.

scientific article published on September 2015

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

scientific article published on 25 September 2014

Variants in CIB2 cause DFNB48 and not USH1J.

scientific article

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

scientific article published on 26 July 2020

miRNA mutations are not a common cause of deafness.

scientific article published in March 2010

List of works by Kimia Kahrizi

A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

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

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.

A novel DFNA5 mutation does not cause hearing loss in an Iranian family.

A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus.

A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II.

A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients.

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.

Association of polymorphisms at LDLR locus with coronary artery disease independently from lipid profile.

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

BOD1 Is Required for Cognitive Function in Humans and Drosophila.

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans

CDC14A Phosphatase is Essential for Hearing and Male Fertility in Mouse and Human.

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

CTG expansion & haplotype analysis in DM1 gene in healthy Iranian population.

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

Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population.

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran

Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages.

Comprehensive Genotype-Phenotype Correlation in AP-4 Deficiency Syndrome; Adding Data from a Large Cohort of Iranian Patients

Correction: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

Correlation between distribution of muscle weakness, electrophysiological findings and CTG expansion in myotonic dystrophy

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia

Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran

Exonic mutations and exon skipping: Lessons learned from DFNA5.

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population.

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

G130V de novo mutation in an Iranian pedigree with nonsyndromic hearing loss without palmoplantar keratoderma

GJB2 mutations: passage through Iran

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

Genetic Investigation of an Iranian Supercentenarian by Whole Exome Sequencing.

Genetic male infertility and mutation of CATSPER ion channels.

Genetics of intellectual disability in consanguineous families

Genetics of non-syndromic hearing loss in the Middle East.

Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation

Hb Dhonburi (Neapolis) [beta126(H4)Val-->Gly] identified in a family from northern Iran

High prevalence of the -alpha3.7 deletion among thalassemia patients in Iran

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

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Homozygous variants in the gene SCAPER cause syndromic intellectual disability

Human male infertility caused by mutations in the CATSPER1 channel protein

Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

Identification of a founder mutation for Pendred syndrome in families from northwest Iran

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

Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation

Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.

Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population

Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.

Interstitial deletion of the short arm of chromosome 10 del(10)(p11.2p12.32) in a patient with congenital heart disease, minor dysmorphism, and mental retardation

Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families.

LGMD2E is the most common type of sarcoglycanopathies in the Iranian population

M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism.

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

Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

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

Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans

Mutations in NSUN2 cause autosomal-recessive intellectual disability.

Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.

New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families.

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

Novel mutations in MYTH4-FERM domains of myosin 15 are associated with autosomal recessive nonsyndromic hearing loss

Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment

PDZD7 and hearing loss: More than just a modifier