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K. Kahrizi · SciRah

Researcher profile · Semantic Scholar

K. Kahrizi

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K. Kahrizi — researcher profile on SciRah

h-index: 49
Works: 264
Citations: 7,665

Most-cited papers

Genetics of intellectual disability in consanguineous families
Hao Hu, K. Kahrizi, L. Musante, Zohreh Fattahi +48 more
2019Molecular Psychiatry201 citations Open access
Semantic Scholar
Iranome: A catalog of genomic variations in the Iranian population
Zohreh Fattahi, M. Beheshtian, M. Mohseni, H. Poustchi +25 more
2019Human Mutation178 citations Open access
Semantic Scholar
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases
M. Mensah, H. Niskanen, Alexandre P. Magalhaes, S. Basu +36 more
2023Nature163 citations Open access
Semantic Scholar
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival
Vincent Michel, Kevin T. A. Booth, P. Patni, Matteo Cortese +18 more
2017EMBO Molecular Medicine78 citations Open access
Semantic Scholar
Effect of inbreeding on intellectual disability revisited by trio sequencing
K. Kahrizi, Hao Hu, M. Hosseini, V. Kalscheuer +27 more
2018Clinical Genetics68 citations Open access
Semantic Scholar
Mutations of the aminoacyl‐tRNA‐synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability
L. Musante, Lucia Püttmann, K. Kahrizi, M. Garshasbi +11 more
2017Human Mutation68 citations Open access
Semantic Scholar
Distinct genetic variation and heterogeneity of the Iranian population
Zohreh Mehrjoo, Zohreh Fattahi, M. Beheshtian, M. Mohseni +26 more
2019PLoS Genetics65 citations Open access
Semantic Scholar
Variants in CIB2 cause DFNB48 and not USH1J
Kevin T. A. Booth, K. Kahrizi, M. Babanejad, Hossein Daghagh +9 more
2018Clinical Genetics59 citations Open access
Semantic Scholar
POLRMT mutations impair mitochondrial transcription causing neurological disease
M. Oláhová, Bradley Peter, Z. Szilágyi, Héctor Díaz-Maldonado +35 more
2021Nature Communications56 citations Open access
Semantic Scholar
CDC14A phosphatase is essential for hearing and male fertility in mouse and human
A. Imtiaz, I. Belyantseva, Alisha Beirl, C. Fenollar-Ferrer +27 more
2018Human Molecular Genetics56 citations Open access
Semantic Scholar
Exonic mutations and exon skipping: lessons learned from DFNA5
Kevin T. A. Booth, H. Azaiez, K. Kahrizi, Donghong Wang +5 more
2018Human Mutation54 citations Open access
Semantic Scholar
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
Ekaterina L. Ivanova, F. T. Mau-Them, S. Riazuddin, K. Kahrizi +21 more
2017American Journal of Human Genetics45 citations Open access
Semantic Scholar
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
T. Mitani, J. Punetha, I. Akalın, D. Pehlivan +32 more
2019American Journal of Human Genetics33 citations Open access
Semantic Scholar
Old gene, new phenotype: Splicing altering variants in CEACAM16 cause recessive non-syndromic hearing impairment
Kevin T. A. Booth, K. Kahrizi, H. Najmabadi, H. Azaiez +1 more
2018Journal of Medical Genetics32 citations Open access
Semantic Scholar
The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders
A. Charzewska, R. Maiwald, K. Kahrizi, B. Oehl-Jaschkowitz +16 more
2018Clinical Genetics24 citations Open access
Semantic Scholar
Genetic etiology of hearing loss in Iran
M. Babanejad, M. Beheshtian, F. Jamshidi, M. Mohseni +3 more
2022Human Genetics23 citations
Semantic Scholar
Biallelic missense variants in ZBTB11 can cause intellectual disability in humans
Zohreh Fattahi, Taimoor I. Sheikh, L. Musante, M. Rasheed +17 more
2018Human Molecular Genetics23 citations Open access
Semantic Scholar
SARS‐CoV‐2 outbreak in Iran: The dynamics of the epidemic and evidence on two independent introductions
Zohreh Fattahi, M. Mohseni, Khadijeh Jalalvand, Fatemeh Aghakhani Moghadam +33 more
2021Transboundary and Emerging Diseases21 citations Open access
Semantic Scholar
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.
J. Diaz, X. Gérard, M. Emerit, Julie Areias +31 more
2020Brain : a journal of neurology19 citations
Semantic Scholar
Genomics of rare diseases in the Greater Middle East
Ikram Chekroun, S. Shenbagam, Mohamed A. Almarri, Younes Mokrab +13 more
2025Nature Genetics16 citations
Semantic Scholar
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population
A. Abolhassani, Zohreh Fattahi, M. Beheshtian, M. Fadaee +27 more
2024npj Genomic Medicine15 citations Open access
Semantic Scholar
Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum.
S. Taghizadeh, Raheleh Vazehan, M. Beheshtian, F. Sadeghinia +7 more
2020Archives of Iranian medicine15 citations Open access
Semantic Scholar
Limbic System Associated Membrane Protein Mutation in an Iranian Family Diagnosed with Ménière's Disease.
Zohreh Mehrjoo, K. Kahrizi, M. Mohseni, M. Akbari +8 more
2020Archives of Iranian medicine14 citations Open access
Semantic Scholar
Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment.
Hoda Mehregan, M. Mohseni, M. Akbari, Khadijeh Jalalvand +4 more
2019Archives of Iranian medicine13 citations
Semantic Scholar
GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability
M. Hosseini, Zohreh Fattahi, S. S. Abedini, Hao Hu +4 more
2018American Journal of Medical Genetics. Part A13 citations Open access
Semantic Scholar
Maternal Mortality and Morbidity by Cause in Provinces of Iran, 1990 to 2019: An Analysis for the Global Burden of Disease Study 2019
Maryam Hosseinpour, Fariba Ardalani, M. Mohseni, M. Beheshtian +6 more
2022Archives of Iranian medicine12 citations
Semantic Scholar
Disease Waves of SARS-CoV-2 in Iran Closely Mirror Global Pandemic Trends
Zohreh Fattahi, M. Mohseni, M. Beheshtian, A. Jafarpour +57 more
2021medRxiv12 citations Open access
Semantic Scholar
Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran
M. Mohseni, M. Babanejad, Kevin T. A. Booth, P. Jamali +24 more
2021Clinical Genetics12 citations Open access
Semantic Scholar
Homozygous variants in the gene SCAPER cause syndromic intellectual disability
K. Kahrizi, Mareike Huber, D. Galetzka, Sri Dewi +8 more
2019American Journal of Medical Genetics. Part A12 citations
Semantic Scholar
tRNA Methyltransferase Defects and Intellectual Disability.
S. S. Abedini, K. Kahrizi, L. R. de Pouplana, H. Najmabadi
2018Archives of Iranian medicine12 citations
Semantic Scholar
Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3
Divya R. Nair, Dong Li, Hannah M. Erdogan, A. Yoon +18 more
2021HGG advances11 citations Open access
Semantic Scholar
CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability
S. Kazeminasab, I. I. Taskiran, Zohreh Fattahi, Niloofar Bazazzadegan +8 more
2018American Journal of Medical Genetics Part B: Neuropsychiatric Genetics11 citations Open access
Semantic Scholar
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
L. Averdunk, H. Sticht, H. Surowy, H. Lüdecke +15 more
2021Journal of molecular medicine10 citations Open access
Semantic Scholar
Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families
M. Beheshtian, Zohreh Fattahi, M. Fadaee, Raheleh Vazehan +15 more
2019Clinical Genetics10 citations
Semantic Scholar
SLC52A2 mutations cause SCABD2 phenotype: A second report.
M. Babanejad, O. Adeli, N. Nikzat, M. Beheshtian +5 more
2018International Journal of Pediatric Otorhinolaryngology10 citations Open access
Semantic Scholar
Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation.
A. Alavi, Sara Esmaeili, S. Nafissi, K. Kahrizi +1 more
2018Neuromuscular Disorders9 citations
Semantic Scholar
Comprehensive copy number analysis of spinal muscular atrophy among the Iranian population
Ali Khanbazi, M. Beheshtian, M. Azad, Masoumeh Akbari Kelishomi +16 more
2024Scientific Reports8 citations Open access
Semantic Scholar
Novel mutations in MYTH4-FERM domains of myosin 15 are associated with autosomal recessive nonsyndromic hearing loss.
Hoda Mehregan, M. Mohseni, Khadijeh Jalalvand, Sanaz Arzhangi +4 more
2019International Journal of Pediatric Otorhinolaryngology8 citations
Semantic Scholar
Calpains: Diverse Functions but Enigmatic.
M. Hosseini, H. Najmabadi, K. Kahrizi
2018Archives of Iranian medicine8 citations
Semantic Scholar
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
F. Jamshidi, Ebrahim Shokouhian, M. Mohseni, K. Kahrizi +2 more
2023Molecular Genetics & Genomic Medicine7 citations Open access
Semantic Scholar
CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families.
Shahrouz Khoshbakht, M. Beheshtian, Zohreh Fattahi, Niloofar Bazazzadegan +10 more
2021Archives of Iranian medicine7 citations Open access
Semantic Scholar
Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism.
G. Kazemi, Fatemeh Peymani, M. Mohseni, Farzane Zare Ashrafi +5 more
2020Archives of Iranian medicine7 citations Open access
Semantic Scholar
When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS)
M. Mohseni, M. Akbari, Kevin T. A. Booth, M. Babanejad +11 more
2020Journal of Human Genetics6 citations Open access
Semantic Scholar
Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data Reanalysis
Zohreh Fattahi, Ebrahim Shokouhian, Fatemeh Peymani, M. Babanejad +10 more
2025Clinical Genetics5 citations
Semantic Scholar
Contribution of genetic variants in the development of familial premature coronary artery disease in a cohort of cardiac patients
Sepideh Mehvari, Nahid Karimian Fathi, S. Saki, Maryam Asadnezhad +17 more
2024Clinical Genetics5 citations
Semantic Scholar
Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort
Farzane Zare Ashrafi, T. Akhtarkhavari, Zohreh Fattahi, Maryam Asadnezhad +4 more
2023Archives of Iranian medicine5 citations Open access
Semantic Scholar
Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients
Meysam Mosallaei, Naeim Ehtesham, M. Beheshtian, Shahrouz Khoshbakht +3 more
2022Molecular Genetics & Genomic Medicine5 citations Open access
Semantic Scholar
Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery
Mostafa Saghi, Kolsoum Inanloorahatloo, A. Alavi, K. Kahrizi +1 more
2022BMC Medical Genomics5 citations Open access
Semantic Scholar
The PTRHD1 Mutation in Intellectual Disability.
S. Cheraghi, S. Moghbelinejad, H. Najmabadi, K. Kahrizi +1 more
2021Archives of Iranian medicine5 citations Open access
Semantic Scholar
A splice-altering variant in LARP7 gene leads to exon exclusion
M. Hosseini, Farzaneh Larti, Zohreh Fattahi, H. Najmabadi +1 more
2019Gene Reports5 citations
Semantic Scholar

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H. Najmabadi×45
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M. Mohseni×18
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Sanaz Arzhangi×18
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M. Beheshtian — researcher profile on SciRah

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M. Babanejad — researcher profile on SciRah

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P. Jamali — researcher profile on SciRah

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H. Azaiez — researcher profile on SciRah