Marzieh Mohseni

@uswr.ac.ir

Genetic Research Center
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences

Marzieh Mohseni


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https://researchid.co/mohseni_mh
Research Assistant Professor,
Genetics Research Center, USWR
Tehran, Iran.

EDUCATION

PhD of Medical Genetics,

RESEARCH INTERESTS

Genetic,Hearing Loss, NGS
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Scopus Publications

Scopus Publications

  • Combining re-evaluation and new exome sequencing to identify novel genetic variants and candidate genes in Iranian families with non-syndromic hearing loss
    Raziye Rezvani Rezvandeh, Negar Kazemi, Farzane Zare Ashrafi, Ebrahim Shokouhian, Zahra Bolghanabadi, Mohammad Amin Omrani, Masoud Edizadeh, Kimia Kahrizi, Hossein Najmabadi, Marzieh Mohseni
    Molecular Biology Reports, 2026
  • First clinical report of a rare PDZD7 nonsense variant and recurrent mutations in Iranian families with autosomal recessive non-syndromic hearing loss
    Hossein Ghasemi, Emran Esmaeilzadeh, Fateme Zahedi Abghari, Marzieh Mohseni, Erfan Akbarpoor, Hamid Reza Khorram Khorshid, Niloofar Bazazzadegan, Reza Najafipour
    BMC Medical Genomics, 2025
    Hereditary hearing loss (HHL) is a genetically heterogeneous disorder, with autosomal recessive non-syndromic hearing loss (ARNSHL) comprising a significant proportion of cases globally. To investigate its genetic basis, we performed whole-exome sequencing (WES) in four consanguineous Iranian families affected by ARNSHL. WES was performed for the proband of each family using an Illumina platform. Secondary analysis was conducted with the DRAGEN Bio-IT Platform, and variant annotation was performed using wANNOVAR. Variants were prioritized based on inheritance patterns and bioinformatic predictions. Selected variants were validated by Sanger sequencing and assessed according to American College of Medical Genetics and Genomics / Association for Molecular Pathology (ACMG/AMP) guidelines. Through this approach, we identified a previously reported missense variant in CDH23:c.5908G > A (p.Glu1970Lys), a nonsense variant in PDZD7:c.175 C > T (p.Arg59Ter) with no prior clinical report, and a recurrent nonsense variant in CDC14A:c.1126 C > T (p.Arg376Ter) in two families, providing further support as a founder mutation in Iran. These findings illustrate the potential diagnostic value of WES in ARNSHL and report, for the first time, a clinical association of the PDZD7 variant (c.175 C > T) with hearing loss. Pathogenic variants in CDH23 and CDC14A are consistent with their established involvement in HHL. Overall, this study provides additional insights into the genetic landscape and genotype–phenotype correlations in ARNSHL.
  • Haplogroup Structure and Genetic Variation Analyses of Mitochondrial Genome SNPs in the Iranian Population
    Masoumeh Ghasemi, Marzieh Mohseni, Zohreh Fattahi, Masoud Edizadeh, Maryam Beheshtian, Fatemeh Keshavarzi, Khadijeh Jalalvand, Mohammadamin Omrani, Ali Khanbazi, Yasser Riazalhosseini, Mohammad Reza Akbari, Kimia Kahrizi, Hossein Najmabadi
    Archives of Iranian Medicine, 2025
    Background: Mitochondrial DNA (mtDNA) is a valuable marker for population studies and forensic investigations. Recent advancements in massively parallel sequencing technologies enable whole mitochondrial genome sequencing. This study collected blood samples from unrelated Iranian participants from four ethnic groups: Persian, Kurd, Lur, and Azeri. We mapped mtDNA haplogroups according to genetic ancestry and investigated the ethnic similarities within the Iranian population. Methods: Complete mtDNA sequences were generated with targeted mtDNA sequencing method and haplogroups were determined on the base of mitogenome polymorphisms. Additionally, we used data from the whole exome sequencing (WES) of the current samples to compare the variants identified by two different mitochondrial testing methods. Principal component analysis (PCA) calculations were performed using the R software to determine diversity between unrelated individuals of various ethnicities. Results: A total of 129 sub-haplogroups were identified in 15 main haplogroups. The findings revealed high frequencies of haplogroups U and H (22.4% and 20.3%, respectively) in the Iranian population. The PCA scatter plots revealed overlapping diversity, with no distinct trends separating the groups in these four groups within the Iranian population. In the present samples, the WES method identified only 57.8% of the variants detected by the targeted mtDNA sequencing method. Conclusion: Variant studies do not show much difference, which indicate a small genetic difference between the central ethnic groups of Iran. Furthermore, comparing the targeted whole mitochondrial genome to mitochondrial data from WES in our study samples highlights the notion that targeted entire mitochondrial genome is a gold standard method for variant detection.
  • A Frameshift Variant in ANKRD24 Implicates Its Role in Human Non-Syndromic Hearing Loss
    Negar Kazemi, Raziye Rezvani Rezvandeh, Farzane Zare Ashrafi, Ebrahim Shokouhian, Masoud Edizadeh, Kevin T. A. Booth, Kimia Kahrizi, Hossein Najmabadi, Marzieh Mohseni
    Clinical Genetics, 2025
    Hearing loss (HL) is the most prevalent sensorineural disorders, affecting about one in 1000 newborns. Over half of the cases are attributed to genetic factors; however, due to the extensive clinical and genetic heterogeneity, many cases remain without a conclusive genetic diagnosis. The advent of next‐generation sequencing methodologies in recent years has greatly helped unravel the genetic etiology of HL by identifying numerous genes and causative variants. Despite this, much remains to be uncovered about the genetic basis of sensorineural hearing loss (SNHL). Here, we report an Iranian consanguineous family with postlingual, moderate‐to‐severe autosomal recessive SNHL. After first excluding plausible variants in known deafness‐causing genes using whole exome sequencing, we reanalyzed the data, using a gene/variant prioritization pipeline established for novel gene discovery for HL. This approach identified a novel homozygous frameshift variant c.1934_1937del; (p.Thr645Lysfs*52) in ANKRD24, which segregated with the HL phenotype in the family. Recently, ANKRD24 has been shown to be a pivotal constituent of the stereocilia rootlet in cochlea hair cells and interacts with TRIOBP, a protein already implicated in human deafness. Our data implicate for the first time, ANKRD24 in human nonsyndromic HL (NSHL) and expands the genetic spectrum of HL.
  • Unraveling the Genetic Landscape of Hearing Loss: A Comprehensive Study of Azeri Families in Ardabil, Iran
    Marzieh Mohseni, Farzane Zare Ashrafi, Ehsan Abbaspour Rodbaneh, Haleh Mokabber, Maryam Vafaei, Ramiz Nobakht, Fatemeh Keshavarzi, Sanaz Arzhangi, Sara Arish, Zahra Nematollahi Azar, Kimia Kahrizi, Hossein Najmabadi, Behzad Davarnia
    Molecular Genetics and Genomic Medicine, 2025
    BackgroundHereditary hearing loss (HHL) is a clinically and genetically heterogeneous sensorineural disorder that presents challenges for diagnosis. Next‐generation sequencing (NGS) approaches have facilitated a more cost‐effective, streamlined diagnostic process. This study aimed to identify HHL variants using NGS in Iranian Azeri families in Ardabil Province, establishing a suitable framework for screening programs tailored to the local population.MethodsSeventy‐four GJB2‐negative Azeri families with HHL from Ardabil Province of Iran were studied using the OtoSCOPE panel and/or exome sequencing over 15‐years from 2008 to 2023.ResultsData analysis revealed 53 HHL variants in 52 of the 74 most consanguineous families (70%), including 34 pathogenic/likely pathogenic variants and 19 variants of uncertain significance. Seventeen of the detected variants were novel. SLC26A4, MYO7A, USH2A, and TMPRSS3 were the most prevalent mutated genes for non‐syndromic hearing loss (NSHL) and syndromic hearing loss (SHL) in this study.ConclusionOur results are comparable to those of previous studies, indicating that SLC26A4 is the second most common cause of HHL, after GJB2. Moreover, our study emphasizes the significance of understanding the genetic basis of HL for early diagnosis and the implementation of suitable screening programs for various ethnicities in Iran.
  • A Village in the Southeastern Region of Iran Harboring the c.716T > A (p.Val239Asp) Mutation in SLC26A4
    Farzane Zare Ashrafi, Saeed Dorgaleleh, Raziye Rezvani Rezvandeh, Negar Kazemi, Nasrin Azizi, Masoud Edizadeh, Mohammad Hossein Azizi, Kimia Kahrizi, Hossein Najmabadi, Reza Najafipour, Marzieh Mohseni
    Archives of Iranian Medicine, 2024
    After GJB2, SLC26A4 is the second most common contributor to autosomal recessive nonsyndromic hearing loss (ARNSHL) worldwide. In this study, we used Exome Sequencing (ES) to present a village with 31 individuals affected by hereditary hearing loss (HHL) in southeastern Iran near the border of Pakistan. The village harbored the known pathogenic missense SLC26A4 (NM_000441.2):c.716T>A (p.Val239Asp) mutation, which has a founder effect attributed to Pakistan, Iran’s southeastern neighbor. Our findings, in addition to unraveling the molecular cause of non-syndromic hearing loss in these patients and further confirming the common ancestry and migration story between the people of this region and Pakistan, provide further insight into the genetic background of this region and highlight the importance of understanding the mutation spectrum of GJB2 and SLC26A4 in different regions to choose cost-effective strategies for molecular genetic testing.
  • Contribution of genetic variants in the development of familial premature coronary artery disease in a cohort of cardiac patients
    Sepideh Mehvari, Nahid Karimian Fathi, Sara Saki, Maryam Asadnezhad, Sanaz Arzhangi, Fatemeh Ghodratpour, Marzieh Mohseni, Farzane Zare Ashrafi, Saeed Sadeghian, Mohammadali Boroumand, Fatemeh Shokohizadeh, Elham Rostami, Rahnama Boroumand, Reza Najafipour, Reza Malekzadeh, Yasser Riazalhosseini, Mohammadreza Akbari, Mark Lathrop, Hossein Najmabadi, Kaveh Hosseini, Kimia Kahrizi
    Clinical Genetics, 2024
    Coronary artery disease (CAD), the most prevalent cardiovascular disease, is the leading cause of death worldwide. Heritable factors play a significant role in the pathogenesis of CAD. It has been proposed that approximately one‐third of patients with CAD have a positive family history, and individuals with such history are at ~1.5‐fold increased risk of CAD in their lifespans. Accordingly, the long‐recognized familial clustering of CAD is a strong risk factor for this disease. Our study aimed to identify candidate genetic variants contributing to CAD by studying a cohort of 60 large Iranian families with at least two members in different generations afflicted with premature CAD (PCAD), defined as established disease at ≤45 years in men and ≤55 years in women. Exome sequencing was performed for a subset of the affected individuals, followed by prioritization and Sanger sequencing of candidate variants in all available family members. Subsequently, apparently healthy carriers of potential risk variants underwent coronary computed tomography angiography (CCTA), followed by co‐segregation analysis of the combined data. Putative causal variants were identified in seven genes, ABCG8, CD36, CYP27A1, PIK3C2G, RASSF9, RYR2, and ZFYVE21, co‐segregating with familial PCAD in seven unrelated families. Among these, PIK3C2G, RASSF9, and ZFYVE21 are novel candidate CAD susceptibility genes. Our findings indicate that rare variants in genes identified in this study are involved in CAD development.
  • Genetic Analysis of 27 Y-STR Haplotypes in 11 Iranian Ethnic Groups
    Somayeh Alinaghi, Marzieh Mohseni, Zohreh Fattahi, Maryam Beheshtian, Fatemeh Ghodratpour, Farzane Zare Ashrafi, Sanaz Arzhangi, Khadijeh Jalalvand, Reza Najafipour, Hamid Reza Khorram Khorshid, Kimia Kahrizi, Hossein Najmabadi
    Archives of Iranian Medicine, 2024
    Background: The study of Y-chromosomal variations provides valuable insights into male susceptibility in certain diseases like cardiovascular disease (CVD). In this study, we analyzed paternal lineage in different Iranian ethnic groups, not only to identify developing medical etiology, but also to pave the way for gender-specific targeted strategies and personalized medicine in medical genetic research studies. Methods: The diversity of eleven Iranian ethnic groups was studied using 27 Y-chromosomal short tandem repeat (Y-STR) haplotypes from Y-filer® Plus kit. Analysis of molecular variance (AMOVA) based on pair-wise RST along with multidimensional scaling (MDS) calculation and Network phylogenic analysis was employed to quantify the differences between 503 unrelated individuals from each ethnicity. Results: Results from AMOVA calculation confirmed that Gilaks and Azeris showed the largest genetic distance (RST=0.35434); however, Sistanis and Lurs had the smallest considerable genetic distance (RST=0.00483) compared to other ethnicities. Although Azeris had a considerable distance from other ethnicities, they were still close to Turkmens. MDS analysis of ethnic groups gave the indication of lack of similarity between different ethnicities. Besides, network phylogenic analysis demonstrated insignificant clustering between samples. Conclusion: The AMOVA analysis results explain that the close distance of Azeris and Turkmens may be the effect of male-dominant expansions across Central Asia that contributed to historical and demographics of populations in the region. Insignificant differences in network analysis could be the consequence of high mutation events that happened in the Y-STR regions over the years. Considering the ethnic group affiliations in medical research, our results provided an understanding and characterization of Iranian male population for future medical and population genetics studies.
  • 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
    Fereshteh Jamshidi, Ebrahim Shokouhian, Marzieh Mohseni, Kimia Kahrizi, Hossein Najmabadi, Mojgan Babanejad
    Molecular Genetics and Genomic Medicine, 2023
    BACKGROUND To date, over 400 syndromes with hearing impairment have been identified which altogether constitute almost 30% of hereditary hearing loss (HL) cases around the globe. Manifested as complete or partial labyrinthine aplasia (severe malformations of the inner ear structure), type I microtia (smaller outer ear with shortened auricles), and microdontia (small and widely spaced teeth), labyrinthine aplasia, microtia, and microdontia (LAMM) syndrome (OMIM 610706) is an extremely rare autosomal recessive condition caused by bi-allelic mutations in the FGF3 gene. METHODS Using the whole-exome sequencing (WES) data of the proband, we analyzed a consanguineous Iranian family with three affected members presenting with congenital bilateral HL, type I microtia, and microdontia. RESULTS We discovered the homozygous deletion c.45delC in the first exon of the FGF3 gene, overlapping a 38.72 Mb homozygosity region in chromosome 11. Further investigations using Sanger sequencing revealed that this variant co-segregated with the phenotype observed in the family. CONCLUSION Here, we report the first identified case of LAMM syndrome in Iran, and by identifying a frameshift variant in the first exon of the FGF3 gene, our result will help better clarify the phenotype-genotype relation of LAMM syndrome.
  • An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene
    Marzieh Mohseni, Yusuf Mohammadi, Farzane Zare Ashrafi, Fatemeh Ghodratpour, Khadijeh Jalalvand, Sanaz Arzhangi, Mojgan Babanejad, Mohammad Hossein Azizi, Kimia Kahrizi, Hossein Najmabadi
    Archives of Iranian Medicine, 2023
    Genetic analysis of non-syndromic hearing loss (NSHL) has been challenged due to marked clinical and genetic heterogeneity. Today, advanced next-generation sequencing (NGS) technologies, such as exome sequencing (ES), have drastically increased the efficacy of gene identification in heterogeneous Mendelian disorders. Here, we present the utility of ES and re-evaluate the phenotypic data for identifying candidate causal variants for previously unexplained progressive moderate to severe NSHL in an extended Iranian family. Using this method, we identified a known heterozygous nonsense variant in exon 26 of the DIAPH1 gene (MIM: 602121), which led to "Deafness, autosomal dominant 1, with or without thrombocytopenia; DFNA1" (MIM: 124900) in this large family in the absence of GJB2 disease-causing variants and also OtoSCOPE-negative results. To the best of our knowledge, this nonsense variant (NM_001079812.3):c.3610C>T (p.Arg1204Ter) is the first report of the DIAPH1 gene variant for autosomal dominant non-syndromic hearing loss (ADNSHL) in Iran.
  • Implementation of an In-House Platform for Rapid Screening of SARS-CoV-2 Genome Variations
    Farzane Zare Ashrafi, Marzieh Mohseni, Maryam Beheshtian, Zohreh Fattahi, Fatemeh Ghodratpour, Fatemeh Keshavarzi, Hanieh Behravan, Marzieh Kalhor, Khadijeh Jalalvand, Maryam Azad, Mahdieh Koshki, Ali Jafarpour, Azam Ghaziasadi, Alireza Abdollahi, Seyed Jalal Kiani, Angila Ataei-Pirkooh, Iman Rezaei Azhar, Farah Bokharaei-Salim, Mohammad Reza Haghshenas, Farhang Babamahmoodi, Zakiye Mokhames, Alireza Soleimani, Masood Ziaee, Davod Javanmard, Shokouh Ghafari, Akram Ezani, Alireza Ansari Moghaddam, Fariba Shahraki-Sanavi, Seyed Mohammad Hashemi Shahri, Azarakhsh Azaran, Farid Yousefi, Afagh Moattari, Mohsen Moghadami, Hamed Fakhim, Behrooz Ataei, Elahe Nasri, Vahdat Poortahmasebi, Mojtaba Varshochi, Ali Mojtahedi, Farid Jalilian, Mohammad Khazeni, Abdolvahab Moradi, Alijan Tabarraei, Ahmad Piroozmand, Yousef Yahyapour, Masoumeh Bayani, Amir Aboofazeli, Parsa Ghafari, Fariba Keramat, Mahsa Tavakoli, Tahmineh Jalali, Mohammad Hassan Pouriayevali, Mostafa Salehi-Vaziri, Hamid Reza Khorram Khorshid, Reza Najafipour, Reza Malekzadeh, Kimia Kahrizi, Seyed Mohammad Jazayeri, Hossein Najmabadi
    Archives of Iranian Medicine, 2023
  • Targeted Next Generation Sequencing Revealed Novel Variants in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant Polycystic Kidney Disease
    Maryam Hosseinpour, Fariba Ardalani, Marzieh Mohseni, Maryam Beheshtian, Sanaz Arzhangi, Shahrzad Ossareh, Hossein Najmabadi, Ali Nobakht, Kimia Kahrizi, Behrooz Broumand
    Archives of Iranian Medicine, 2022
  • Disease Waves of SARS-CoV-2 in Iran Closely Mirror Global Pandemic Trends
    Zohreh Fattahi, Marzieh Mohseni, Maryam Beheshtian, Ali Jafarpour, Khadijeh Jalalvand, Fatemeh Keshavarzi, Hanieh Behravan, Fatemeh Ghodratpour, Farzane Zare Ashrafi, Marzieh Kalhor, Maryam Azad, Mahdieh Koshki, Azam Ghaziasadi, Mohamad Soveyzi, Alireza Abdollahi, Seyed Jalal Kiani, Angila Ataei-Pirkooh, Iman Rezaeiazhar, Farah Bokharaei-Salim, Mohammad Reza Haghshenas, Farhang Babamahmoodi, Zakiye Mokhames, Alireza Soleimani, Zohreh Elahi, Masood Ziaee, Davod Javanmard, Shokouh Ghafari, Akram Ezani, Alireza Ansari Moghaddam, Fariba Shahraki-Sanavi, Seyed Mohammad Hashemi Shahri, Azarakhsh Azaran, Farid Yousefi, Afagh Moattari, Mohsen Moghadami, Hamed Fakhim, Behrooz Ataei, Elahe Nasri, Vahdat Poortahmasebi, Mojtaba Varshochi, Ali Mojtahedi, Farid Jalilian, Mohammad Khazeni, Abdolvahab Moradi, Alijan Tabarraei, Ahmad Piroozmand, Yousef Yahyapour, Masoumeh Bayani, Fatemeh Tavangar, Mahmood Yaghoubi, Fariba Keramat, Mahsa Tavakoli, Tahmineh Jalali, Mohammad Hassan Pouriayevali, Mostafa Salehi-Vaziri, Hamid Reza Khorram Khorshid, Reza Najafipour, Reza Malekzadeh, Kimia Kahrizi, Seyed Mohammad Jazayeri, Hossein Najmabadi
    Archives of Iranian Medicine, 2022
  • SARS-CoV-2 outbreak in Iran: The dynamics of the epidemic and evidence on two independent introductions
    Zohreh Fattahi, Marzieh Mohseni, Khadijeh Jalalvand, Fatemeh Aghakhani Moghadam, Azam Ghaziasadi, Fatemeh Keshavarzi, Jila Yavarian, Ali Jafarpour, Seyedeh Elham Mortazavi, Fatemeh Ghodratpour, Hanieh Behravan, Mohammad Khazeni, Seyed Amir Momeni, Issa Jahanzad, Abdolvahab Moradi, Alijan Tabarraei, Sadegh Ali Azimi, Ebrahim Kord, Seyed Mohammad Hashemi‐Shahri, Azarakhsh Azaran, Farid Yousefi, Zakiye Mokhames, Alireza Soleimani, Shokouh Ghafari, Masood Ziaee, Shahram Habibzadeh, Farhad Jeddi, Azar Hadadi, Alireza Abdollahi, Gholam Abbas Kaydani, Saber Soltani, Talat Mokhtari‐Azad, Reza Najafipour, Reza Malekzadeh, Kimia Kahrizi, Seyed Mohammad Jazayeri, Hossein Najmabadi
    Transboundary and Emerging Diseases, 2022
  • Genetic etiology of hearing loss in Iran
    Mojgan Babanejad, Maryam Beheshtian, Fereshteh Jamshidi, Marzieh Mohseni, Kevin T. Booth, Kimia Kahrizi, Hossein Najmabadi
    Human Genetics, 2022
  • Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran
    Marzieh Mohseni, Mojgan Babanejad, Kevin T. Booth, Payman Jamali, Khadijeh Jalalvand, Behzad Davarnia, Fariba Ardalani, Atefeh Khoshaeen, Sanaz Arzhangi, Fatemeh Ghodratpour, Maryam Beheshtian, Faezeh Jahanshad, Hasan Otukesh, Fatemeh Bahrami, Seyed Morteza Seifati, Niloofar Bazazzadegan, Farkhonde Habibi, Hanieh Behravan, Sepide Mirzaei, Fatemeh Keshavarzi, Nooshin Nikzat, Zohreh Mehrjoo, Holger Thiele, Michael Nothnagel, Hela Azaiez, Richard J. Smith, Kimia Kahrizi, Hossein Najmabadi
    Clinical Genetics, 2021
  • Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients
    Maryam Beheshtian, Tara Akhtarkhavari, Sepideh Mehvari, Marzieh Mohseni, Zohreh Fattahi, Seyedeh Sedigheh Abedini, Sanaz Arzhangi, Mahsa Fadaee, Payman Jamali, Reza Najafipour, Vera M. Kalscheuer, Hao Hu, Hans‐Hilger Ropers, Hossein Najmabadi, Kimia Kahrizi
    Clinical Genetics, 2021
  • Novel mutation in LARP7 in two Iranian consanguineous families with syndromic intellectual disability and facial dysmorphism
    Goli Kazemi, Fatemeh Peymani, Marzieh Mohseni, Farzane Zare Ashrafi, Sanaz Arzhangi, Fariba Ardalani, Fatemeh Aghakhani Moghaddam, Kimia Kahrizi, Hossein Najmabadi
    Archives of Iranian Medicine, 2020
  • Molecular diagnosis of hereditary neuropathies by whole exome sequencing and expanding the phenotype spectrum
    Sara Taghizadeh, Raheleh Vazehan, Maryam Beheshtian, Farnaz Sadeghinia, Zohreh Fattahi, Marzieh Mohseni, Sanaz Arzhangi, Shahriar Nafissi, Ariana Kariminejad, Hossein Najmabadi, Kimia Kahrizi
    Archives of Iranian Medicine, 2020
  • When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS)
    Marzieh Mohseni, Mojdeh Akbari, Kevin T. Booth, Mojgan Babanejad, Hela Azaiez, Fariba Ardalani, Sanaz Arzhangi, Khadijeh Jalalvand, Nooshin Nikzat, Fatemeh Ghodratpour, Payman Jamali, Omid Ali Adeli, Haleh Habibi, Kimia Kahrizi, Hossein Najmabadi
    Journal of Human Genetics, 2020
  • G130V de novo mutation in an Iranian pedigree with nonsyndromic hearing loss without palmoplantar keratoderma
    Mojgan Babanejad, Masoud Motasaddi Zarandy, Nooshin Nikzat, Niloofar Bazazzadegan, Sanaz Arzhangi, Marzieh Mohseni, Kimia Kahrizi, Hossein Najmabadi
    International Journal of Pediatric Otorhinolaryngology, 2019
  • Iranome: A catalog of genomic variations in the Iranian population
    Zohreh Fattahi, Maryam Beheshtian, Marzieh Mohseni, Hossein Poustchi, Erin Sellars, Sayyed Hossein Nezhadi, Amir Amini, Sanaz Arzhangi, Khadijeh Jalalvand, Peyman Jamali, Zahra Mohammadi, Behzad Davarnia, Pooneh Nikuei, Morteza Oladnabi, Akbar Mohammadzadeh, Elham Zohrehvand, Azim Nejatizadeh, Mohammad Shekari, Maryam Bagherzadeh, Ehsan Shamsi‐Gooshki, Stefan Börno, Bernd Timmermann, Aliakbar Haghdoost, Reza Najafipour, Hamid Reza Khorram Khorshid, Kimia Kahrizi, Reza Malekzadeh, Mohammad R. Akbari, Hossein Najmabadi
    Human Mutation, 2019
  • Genetics of intellectual disability in consanguineous families
    Hao Hu, Kimia Kahrizi, Luciana Musante, Zohreh Fattahi, Ralf Herwig, Masoumeh Hosseini, Cornelia Oppitz, Seyedeh Sedigheh Abedini, Vanessa Suckow, Farzaneh Larti, Maryam Beheshtian, Bettina Lipkowitz, Tara Akhtarkhavari, Sepideh Mehvari, Sabine Otto, Marzieh Mohseni, Sanaz Arzhangi, Payman Jamali, Faezeh Mojahedi, Maryam Taghdiri, Elaheh Papari, Mohammad Javad Soltani Banavandi, Saeide Akbari, Seyed Hassan Tonekaboni, Hossein Dehghani, Mohammad Reza Ebrahimpour, Ingrid Bader, Behzad Davarnia, Monika Cohen, Hossein Khodaei, Beate Albrecht, Sarah Azimi, Birgit Zirn, Milad Bastami, Dagmar Wieczorek, Gholamreza Bahrami, Krystyna Keleman, Leila Nouri Vahid, Andreas Tzschach, Jutta Gärtner, Gabriele Gillessen-Kaesbach, Jamileh Rezazadeh Varaghchi, Bernd Timmermann, Fatemeh Pourfatemi, Aria Jankhah, Wei Chen, Pooneh Nikuei, Vera M. Kalscheuer, Morteza Oladnabi, Thomas F. Wienker, Hans-Hilger Ropers, Hossein Najmabadi
    Molecular Psychiatry, 2019
  • Novel mutations in KCNQ4, LHFPL5 and COCH genes in iranian families with hearing impairment
    Archives of Iranian Medicine, 2019
  • Novel mutations in MYTH4-FERM domains of myosin 15 are associated with autosomal recessive nonsyndromic hearing loss
    Hoda Mehregan, Marzieh Mohseni, Khadijeh Jalalvand, Sanaz Arzhangi, Nooshin Nikzat, Sussan Banihashemi, Kimia Kahrizi, Hossein Najmabadi
    International Journal of Pediatric Otorhinolaryngology, 2019
  • Distinct genetic variation and heterogeneity of the Iranian population
    Zohreh Mehrjoo, Zohreh Fattahi, Maryam Beheshtian, Marzieh Mohseni, Hossein Poustchi, Fariba Ardalani, Khadijeh Jalalvand, Sanaz Arzhangi, Zahra Mohammadi, Shahrouz Khoshbakht, Farid Najafi, Pooneh Nikuei, Mohammad Haddadi, Elham Zohrehvand, Morteza Oladnabi, Akbar Mohammadzadeh, Mandana Hadi Jafari, Tara Akhtarkhavari, Ehsan Shamsi Gooshki, Aliakbar Haghdoost, Reza Najafipour, Lisa-Marie Niestroj, Barbara Helwing, Yasmina Gossmann, Mohammad Reza Toliat, Reza Malekzadeh, Peter Nürnberg, Kimia Kahrizi, Hossein Najmabadi, Michael Nothnagel
    Plos Genetics, 2019
  • Effect of inbreeding on intellectual disability revisited by trio sequencing
    Kimia Kahrizi, Hao Hu, Masoumeh Hosseini, Vera M. Kalscheuer, Zohreh Fattahi, Maryam Beheshtian, Vanessa Suckow, Marzieh Mohseni, Bettina Lipkowitz, Sepideh Mehvari, Zohreh Mehrjoo, Tara Akhtarkhavari, Zhila Ghaderi, Maryam Rahimi, Sanaz Arzhangi, Payman Jamali, Milad Falahat Chian, Pooneh Nikuei, Farahnaz Sabbagh Kermani, Farnaz Sadeghinia, Roshanak Jazayeri, S. Hassan Tonekaboni, Atefeh Khoshaeen, Haleh Habibi, Fatemeh Pourfatemi, Faezeh Mojahedi, Mohammad‐Reza Khodaie‐Ardakani, Reza Najafipour, Thomas F. Wienker, Hossein Najmabadi, Hans‐Hilger Ropers
    Clinical Genetics, 2019
  • Identification of three novel frameshift mutations in the PKD1 gene in iranian families with autosomal dominant polycystic kidney disease using efficient targeted next-generation sequencing
    Fariba Ranjzad, Nasser Aghdami, Ahmad Tara, Marzieh Mohseni, Reza Moghadasali, Abbas Basiri
    Kidney and Blood Pressure Research, 2018
  • SLC52A2 mutations cause SCABD2 phenotype: A second report
    Mojgan Babanejad, Omid Ali Adeli, Nooshin Nikzat, Maryam Beheshtian, Hakimeh Azarafra, Farnaz Sadeghnia, Marzieh Mohseni, Hossein Najmabadi, Kimia Kahrizi
    International Journal of Pediatric Otorhinolaryngology, 2018
  • Investigation of the relationship between a genetic polymorphism in ACTN3 and elite sport performance among iranian soccer players
    Asal Honarpour, Marzieh Mohseni, Siamak Ghavidel Hajiagha, Shiva Irani, Hossein Najmabadi, , , , , and
    Iranian Rehabilitation Journal, 2017
  • Heterogeneity of hereditary hearing loss in Iran: A comprehensive review
    Archives of Iranian Medicine, 2016
  • Novel CFTR mutations in two iranian families with severe cystic fibrosis
    M. Mohseni, Mohammad Razzaghmanesh, Elham Parsi Mehr, Hanieh Zare, M. Beheshtian, H. Najmabadi
    Iranian Biomedical Journal, 2016
  • Impact of whole exome sequencing among iranian patients with autosomal recessive retinitis pigmentosa
    Archives of Iranian Medicine, 2015
  • Carrier detection in a normal individual for 69 genes involved in familial cancer syndromes using whole exome sequencing
    Genetics in the Third Millennium, 2015
  • Association study of the TREM2 gene and identification of a novel variant in exon 2 in iranian patients with late-onset Alzheimer's disease
    Zohreh Mehrjoo, Amin Najmabadi, Seyedeh Sedigheh Abedini, Marzieh Mohseni, Koorosh Kamali, Hossein Najmabadi, Hamid Reza Khorram Khorshid
    Medical Principles and Practice, 2015
  • Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran
    Christina M Sloan-Heggen, Mojgan Babanejad, Maryam Beheshtian, Allen C Simpson, Kevin T Booth, Fariba Ardalani, Kathy L Frees, Marzieh Mohseni, Reza Mozafari, Zohreh Mehrjoo, Leila Jamali, Saeideh Vaziri, Tara Akhtarkhavari, Niloofar Bazazzadegan, Nooshin Nikzat, Sanaz Arzhangi, Farahnaz Sabbagh, Hasan Otukesh, Seyed Morteza Seifati, Hossein Khodaei, Maryam Taghdiri, Nicole C Meyer, Ahmad Daneshi, Mohammad Farhadi, Kimia Kahrizi, Richard JH Smith, Hela Azaiez, Hossein Najmabadi
    Journal of Medical Genetics, 2015
  • Identification of a founder mutation for Pendred syndrome in families from northwest Iran
    Marzieh Mohseni, Asal Honarpour, Reza Mozafari, Behzad Davarnia, Hossein Najmabadi, Kimia Kahrizi
    International Journal of Pediatric Otorhinolaryngology, 2014
  • Linkage analysis of DFNB59, one of the prevalent loci in 36 Iranian families with autosomal recessive non-syndromic hearing loss
    Genetics in the Third Millennium, 2014
  • Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families
    F Zeinali, M Mohseni, M Fadaee, Z Fattahi, H Najmabadi, H Otukesh, K Kahrizi
    Journal of Laryngology and Otology, 2014
  • Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: Genetic characterization and report of nine novel mutations in five BBS genes
    Zohreh Fattahi, Parvin Rostami, Amin Najmabadi, Marzieh Mohseni, Kimia Kahrizi, Mohammad Reza Akbari, Ariana Kariminejad, Hossein Najmabadi
    Journal of Human Genetics, 2014
  • Investigation of primary microcephaly in Bushehr province of Iran: Novel STIL and ASPM mutations
    E Papari, M Bastami, A Farhadi, SS Abedini, M Hosseini, I Bahman, M Mohseni, M Garshasbi, L Abbasi Moheb, F Behjati, K Kahrizi, H‐H Ropers, H Najmabadi
    Clinical Genetics, 2013
  • Investigation of genetic causes of intellectual disability in Kerman Province, South East of Iran
    Iranian Red Crescent Medical Journal, 2012
  • Deep sequencing reveals 50 novel genes for recessive cognitive disorders
    Hossein Najmabadi, Hao Hu, Masoud Garshasbi, Tomasz Zemojtel, Seyedeh Sedigheh Abedini, Wei Chen, Masoumeh Hosseini, Farkhondeh Behjati, Stefan Haas, Payman Jamali, Agnes Zecha, Marzieh Mohseni, Lucia Püttmann, Leyla Nouri Vahid, Corinna Jensen, Lia Abbasi Moheb, Melanie Bienek, Farzaneh Larti, Ines Mueller, Robert Weissmann, Hossein Darvish, Klaus Wrogemann, Valeh Hadavi, Bettina Lipkowitz, Sahar Esmaeeli-Nieh, Dagmar Wieczorek, Roxana Kariminejad, Saghar Ghasemi Firouzabadi, Monika Cohen, Zohreh Fattahi, Imma Rost, Faezeh Mojahedi, Christoph Hertzberg, Atefeh Dehghan, Anna Rajab, Mohammad Javad Soltani Banavandi, Julia Hoffer, Masoumeh Falah, Luciana Musante, Vera Kalscheuer, Reinhard Ullmann, Andreas Walter Kuss, Andreas Tzschach, Kimia Kahrizi, H. Hilger Ropers
    Nature, 2011
  • Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans
    ChangHui Pak, Masoud Garshasbi, Kimia Kahrizi, Christina Gross, Luciano H. Apponi, John J. Noto, Seth M. Kelly, Sara W. Leung, Andreas Tzschach, Farkhondeh Behjati, Seyedeh Sedigheh Abedini, Marzieh Mohseni, Lars R. Jensen, Hao Hu, Brenda Huang, Sara N. Stahley, Guanglu Liu, Kathryn R. Williams, Sharon Burdick, Yue Feng, Subhabrata Sanyal, Gary J. Bassell, Hans-Hilger Ropers, Hossein Najmabadi, Anita H. Corbett, Kenneth H. Moberg, Andreas W. Kuss
    Proceedings of the National Academy of Sciences of the United States of America, 2011
  • Autosomal recessive mental retardation: Homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots
    Andreas Walter Kuss, Masoud Garshasbi, Kimia Kahrizi, Andreas Tzschach, Farkhondeh Behjati, Hossein Darvish, Lia Abbasi-Moheb, Lucia Puettmann, Agnes Zecha, Robert Weißmann, Hao Hu, Marzieh Mohseni, Seyedeh Sedigheh Abedini, Anna Rajab, Christoph Hertzberg, Dagmar Wieczorek, Reinhard Ullmann, Saghar Ghasemi-Firouzabadi, Susan Banihashemi, Sanaz Arzhangi, Valeh Hadavi, Gholamreza Bahrami-Monajemi, Mahboubeh Kasiri, Masoumeh Falah, Pooneh Nikuei, Atefeh Dehghan, Masoumeh Sobhani, Payman Jamali, Hans Hilger Ropers, Hossein Najmabadi
    Human Genetics, 2011
  • A clinical and molecular genetic study of 112 Iranian families with primary microcephaly
    H Darvish, S Esmaeeli-Nieh, G B Monajemi, M Mohseni, S Ghasemi-Firouzabadi, S S Abedini, I Bahman, P Jamali, S Azimi, F Mojahedi, A Dehghan, Y Shafeghati, A Jankhah, M Falah, M J Soltani Banavandi, M Ghani-Kakhi, M Garshasbi, F Rakhshani, A Naghavi, A Tzschach, H Neitzel, H H Ropers, A W Kuss, F Behjati, K Kahrizi, H Najmabadi
    Journal of Medical Genetics, 2010
  • Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population
    Ali Reza Pouya, Seyedeh Sedigheh Abedini, Neda Mansoorian, Farkhondeh Behjati, Nooshin Nikzat, Marzieh Mohseni, Sahar Esmaeeli Nieh, Lia Abbasi Moheb, Hossein Darvish, Gholamreza Bahrami Monajemi, Susan Banihashemi, Kimia Kahrizi, Hans Hilger Ropers, Hossein Najmabadi
    European Journal of Medical Genetics, 2009
  • Identification of SLC26A4 gene mutations in iranian families with hereditary hearing impairment
    Kimia Kahrizi, Marzieh Mohseni, Carla Nishimura, Niloofar Bazazzadegan, Stephanie M. Fischer, Atefeh Dehghani, Morteza Sayfati, Maryam Taghdiri, Payman Jamali, Richard J. H. Smith, Fereydoun Azizi, Hossein Najmabadi
    European Journal of Pediatrics, 2009
  • Sensorineural deafness and male infertility: A contiguous gene deletion syndrome
    Yuzhou Zhang, Mahdi Malekpour, Navid Al-Madani, Kimia Kahrizi, Marvam Zanganeh, Marzieh Mohseni, Faezeh Mojahedi, Ahmad Daneshi, Hossein Najmabadi, Richard J H Smith
    BMJ Case Reports, 2009
  • GJB2 mutations in Baluchi population
    Anoosh Naghavi, Carla Nishimura, Kimia Kahrizi, Yasser Riazalhosseini, Niloofar Bazazzadegan, Marzieh Mohseni, Richard J. H. Smith, Hossein Najmabadi
    Journal of Genetics, 2008
  • Erratum: Sensorineural deafness and male infertility: A contiguous gene deletion syndrome (Journal of Medical Genetics (2007) 44, (233-240))
    Journal of Medical Genetics, 2007
  • Sensorineural deafness and male infertility: A contiguous gene deletion syndrome
    Yuzhou Zhang, Mahdi Malekpour, Navid Al-Madani, Kimia Kahrizi, Marvam Zanganeh, Marzieh Mohseni, Faezeh Mojahedi, Ahmad Daneshi, Hossein Najmabadi, Richard J H Smith
    Journal of Medical Genetics, 2007
  • Delta (GJB6-D13S1830) is not a common cause of nonsyndromic hearing loss in the Iranian population
    Archives of Iranian Medicine, 2005
  • GJB2 mutations: Passage through Iran
    Hossein Najmabadi, Carla Nishimura, Kimia Kahrizi, Yasser Riazalhosseini, Mahdi Malekpour, Ahmad Daneshi, Mohammad Farhadi, Marzieh Mohseni, Nejat Mahdieh, Ahmad Ebrahimi, Niloofar Bazazzadegan, Anoosh Naghavi, Matthew Avenarius, Sanaz Arzhangi, Richard J.H. Smith
    American Journal of Medical Genetics, 2005