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172 results on '"Fattahi, Zohreh"'

1. SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Author

Nashabat, Marwan, Nabavizadeh, Nasrinsadat, Saraçoğlu, Hilal Pırıl, Sarıbaş, Burak, Avcı, Şahin, Börklü, Esra, Beillard, Emmanuel, Yılmaz, Elanur, Uygur, Seyide Ecesu, Kayhan, Cavit Kerem, Bosco, Luca, Eren, Zeynep Bengi, Steindl, Katharina, Richter, Manuela Friederike, Bademci, Guney, Rauch, Anita, Fattahi, Zohreh, Valentino, Maria Lucia, Connolly, Anne M., Bahr, Angela, Viola, Laura, Bergmann, Anke Katharina, Rocha, Maria Eugenia, Peart, LeShon, Castro-Rojas, Derly Liseth, Bültmann, Eva, Khan, Suliman, Giarrana, Miriam Liliana, Teleanu, Raluca Ioana, Gonzalez, Joanna Michelle, Pini, Antonella, Schädlich, Ines Sophie, Vill, Katharina, Brugger, Melanie, Zuchner, Stephan, Pinto, Andreia, Donkervoort, Sandra, Bivona, Stephanie Ann, Riza, Anca, Streata, Ioana, Gläser, Dieter, Baquero-Montoya, Carolina, Garcia-Restrepo, Natalia, Kotzaeridou, Urania, Brunet, Theresa, Epure, Diana Anamaria, Bertoli-Avella, Aida, Kariminejad, Ariana, Tekin, Mustafa, von Hardenberg, Sandra, Bönnemann, Carsten G., Stettner, Georg M., Zanni, Ginevra, Kayserili, Hülya, Oflazer, Zehra Piraye, and Escande-Beillard, Nathalie

Published
2024
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2. Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population

Author

Abolhassani, Ayda, Fattahi, Zohreh, Beheshtian, Maryam, Fadaee, Mahsa, Vazehan, Raheleh, Ahangari, Fatemeh, Dehdahsi, Shima, Faraji Zonooz, Mehrshid, Parsimehr, Elham, Kalhor, Zahra, Peymani, Fatemeh, Mozaffarpour Nouri, Maryam, Babanejad, Mojgan, Noudehi, Khadijeh, Fatehi, Fatemeh, Zamanian Najafabadi, Shima, Afroozan, Fariba, Yazdan, Hilda, Bozorgmehr, Bita, Azarkeivan, Azita, Sadat Mahdavi, Shokouh, Nikuei, Pooneh, Fatehi, Farzad, Jamali, Payman, Ashrafi, Mahmoud Reza, Karimzadeh, Parvaneh, Habibi, Haleh, Kahrizi, Kimia, Nafissi, Shahriar, Kariminejad, Ariana, and Najmabadi, Hossein

Published
2024
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5. Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data Reanalysis.

Author

Fattahi, Zohreh, Shokouhian, Ebrahim, Peymani, Fatemeh, Babanejad, Mojgan, Beheshtian, Maryam, Edizadeh, Masoud, Molaei, Negar, Alagha, Parnian, Ghodratpour, Fatemeh, Keshavarzi, Fatemeh, Moghadam, Masoumeh Goleyjani, Arzhangi, Sanaz, Kahrizi, Kimia, and Najmabadi, Hossein

Subjects
*NUCLEOTIDE sequencing, *WHOLE genome sequencing, *IRANIANS, *PATIENTS' families, *INTELLECTUAL disabilities, *RECESSIVE genes
Abstract

ABSTRACT Recent advances in next generation sequencing (NGS) have positioned whole exome sequencing (WES) as an efficient first‐tier method in genetic diagnosis. However, despite the diagnostic yield of 35%–50% in intellectual disability (ID) many patients still remain undiagnosed due to inherent limitations and bioinformatic short‐comings. In this study, we reanalyzed WES data from 159 Iranian families showing recessively inherited ID. The reanalysis was conducted with an initial clinical re‐evaluation of the patients and their families, followed by data reanalysis using two updated bioinformatic pipelines. In the first phase, the BWA‐GATK pipeline was utilized for alignment and variant calling, with subsequent variant annotation by the ANNOVAR tool. This approach yielded causative variants in 17 families (10.6%). Among these, six genes (MAZ, ACTR5, AKTIP, MIX23, SERPINB12, and CDC25B) were identified as novel candidates potentially associated with ID, supported by bioinformatics functional annotation and segregation analysis. In the second phase, families with negative results were reassessed using the Illumina DRAGEN Bio‐IT platform for variant‐calling, and Ilyome, a newly developed web‐based tool, for annotation. The second phase identified likely pathogenic variants in two additional families, increasing the total diagnostic yield to 11.9% which is consistent with other studies conducted on cohorts of patients with ID. In conclusion, identification of co‐segregating variants in six novel candidate genes in this study, emphasizes once more on the potential of WES reanalysis to uncover previously unknown gene‐disease associations. Notably, it demonstrates that systematic reanalysis of WES data using updated bioinformatic tools and a thorough review of the literature for new gene‐disease associations while performing phenotypic re‐evaluation, can improve diagnostic outcome of WES in recessively inherited ID. Consequently, if performed within a 1–3 year period, it can reduce the number of cases that may require other costly diagnostic methods such as whole genome sequencing. [ABSTRACT FROM AUTHOR]

Published
2025
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8. Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

Author

Sheikh, Taimoor I., Vasli, Nasim, Pastore, Stephen, Kharizi, Kimia, Harripaul, Ricardo, Fattahi, Zohreh, Pande, Shruti, Naeem, Farooq, Hussain, Abrar, Mir, Asif, Islam, Omar, Girisha, Katta Mohan, Irfan, Muhammad, Ayub, Muhammad, Schwarzer, Christoph, Najmabadi, Hossein, Shukla, Anju, Sladky, Valentina C., Braun, Vincent Zoran, Garcia-Carpio, Irmina, Villunger, Andreas, and Vincent, John B.

Published
2021
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9. Genetics of intellectual disability in consanguineous families

Author

Hu, Hao, Kahrizi, Kimia, Musante, Luciana, Fattahi, Zohreh, Herwig, Ralf, Hosseini, Masoumeh, Oppitz, Cornelia, Abedini, Seyedeh Sedigheh, Suckow, Vanessa, Larti, Farzaneh, Beheshtian, Maryam, Lipkowitz, Bettina, Akhtarkhavari, Tara, Mehvari, Sepideh, Otto, Sabine, Mohseni, Marzieh, Arzhangi, Sanaz, Jamali, Payman, Mojahedi, Faezeh, Taghdiri, Maryam, Papari, Elaheh, Soltani Banavandi, Mohammad Javad, Akbari, Saeide, Tonekaboni, Seyed Hassan, Dehghani, Hossein, Ebrahimpour, Mohammad Reza, Bader, Ingrid, Davarnia, Behzad, Cohen, Monika, Khodaei, Hossein, Albrecht, Beate, Azimi, Sarah, Zirn, Birgit, Bastami, Milad, Wieczorek, Dagmar, Bahrami, Gholamreza, Keleman, Krystyna, Vahid, Leila Nouri, Tzschach, Andreas, Gärtner, Jutta, Gillessen-Kaesbach, Gabriele, Varaghchi, Jamileh Rezazadeh, Timmermann, Bernd, Pourfatemi, Fatemeh, Jankhah, Aria, Chen, Wei, Nikuei, Pooneh, Kalscheuer, Vera M., Oladnabi, Morteza, Wienker, Thomas F., Ropers, Hans-Hilger, and Najmabadi, Hossein

Published
2019
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10. P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders

Author

Abolhassani, Ayda, Fattahi, Zohreh, Beheshtian, Maryam, Fadaee, Mahsa, Vazehan, Raheleh, Ahangari, Fatemeh, Dehdahsi, Shima, Zonooz, Mehrshid Faraji, Parsimehr, Elham, Kalhor, Zahra, Peymani, Fatemeh, Nouri, Maryam Mozaffarpour, Babanejad, Mojgan, Noudehi, Khadijeh, Fatehi, Fatemeh, Najafabadi, Shima Zamanian, Afroozan, Fariba, Yazdan, Hilda, Bozorgmehr, Bita, Azarkeivan, Azita, Mahdavi, Shokouh Sadat, Nikuei, Pooneh, Fatehi, Farzad, Jamali, Payman, Ashrafi, Mahmoud Reza, Karimzadeh, Parvaneh, Habibi, Haleh, Kahrizi, Kimia, Nafissi, Shahriar, Kariminejad, Ariana, and Najmabadi, Hossein

Published
2024
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15. Implementation of an In-House Platform for Rapid Screening of SARS-CoV-2 Genome Variations

Author

Zare Ashrafi, Farzane, primary, Mohseni, Marzieh, additional, Beheshtian, Maryam, additional, Fattahi, Zohreh, additional, Ghodratpour, Fatemeh, additional, Keshavarzi, Fatemeh, additional, Behravan, Hanieh, additional, Kalhor, Marzieh, additional, Jalalvand, Khadijeh, additional, Azad, Maryam, additional, Koshki, Mahdieh, additional, Jafarpour, Ali, additional, Ghaziasadi, Azam, additional, Abdollahi, Alireza, additional, Kiani, Seyed Jalal, additional, Ataei-Pirkooh, Angila, additional, Rezaei Azhar, Iman, additional, Bokharaei-Salim, Farah, additional, Haghshenas, Mohammad Reza, additional, Babamahmoodi, Farhang, additional, Mokhames, Zakiye, additional, Soleimani, Alireza, additional, Ziaee, Masood, additional, Javanmard, Davod, additional, Ghafari, Shokouh, additional, Ezani, Akram, additional, Ansari Moghaddam, Alireza, additional, Shahraki-Sanavi, Fariba, additional, Hashemi Shahri, Seyed Mohammad, additional, Azaran, Azarakhsh, additional, Yousefi, Farid, additional, Moattari, Afagh, additional, Moghadami, Mohsen, additional, Fakhim, Hamed, additional, Ataei, Behrooz, additional, Nasri, Elahe, additional, Poortahmasebi, Vahdat, additional, Varshochi, Mojtaba, additional, Mojtahedi, Ali, additional, Jalilian, Farid, additional, Khazeni, Mohammad, additional, Moradi, Abdolvahab, additional, Tabarraei, Alijan, additional, Piroozmand, Ahmad, additional, Yahyapour, Yousef, additional, Bayani, Masoumeh, additional, Aboofazeli, Amir, additional, Ghafari, Parsa, additional, Keramat, Fariba, additional, Tavakoli, Mahsa, additional, Jalali, Tahmineh, additional, Pouriayevali, Mohammad Hassan, additional, Salehi-Vaziri, Mostafa, additional, Khorram Khorshid, Hamid Reza, additional, Najafipour, Reza, additional, Malekzadeh, Reza, additional, Kahrizi, Kimia, additional, Jazayeri, Seyed Mohammad, additional, and Najmabadi, Hossein, additional

Published
2023
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17. The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss—A twelve year study

Author

Bazazzadegan, Niloofar, Nikzat, Nooshin, Fattahi, Zohreh, Nishimura, Carla, Meyer, Nicole, Sahraian, Shima, Jamali, Payman, Babanejad, Mojgan, Kashef, Atie, Yazdan, Hilda, Sabbagh Kermani, Farahnaz, Taghdiri, Maryam, Azadeh, Batool, Mojahedi, Faezeh, Khoshaeen, Atefeh, Habibi, Haleh, Reyhanifar, Farahnaz, Nouri, Narges, Smith, Richard J.H., Kahrizi, Kimia, and Najmabadi, Hossein

Published
2012
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19. Disease Waves of SARS-CoV-2 in Iran Closely Mirror Global Pandemic Trends

Author

Fattahi, Zohreh, primary, Mohseni, Marzieh, additional, Beheshtian, Maryam, additional, Jafarpour, Ali, additional, Jalalvand, Khadijeh, additional, Keshavarzi, Fatemeh, additional, Behravan, Hanieh, additional, Ghodratpour, Fatemeh, additional, Zare Ashrafi, Farzane, additional, Kalhor, Marzieh, additional, Azad, Maryam, additional, Koshki, Mahdieh, additional, Ghaziasadi, Azam, additional, Soveyzi, Mohamad, additional, Abdollahi, Alireza, additional, Kiani, Seyed Jalal, additional, Ataei-Pirkooh, Angila, additional, Rezaeiazhar, Iman, additional, Bokharaei-Salim, Farah, additional, Haghshenas, Mohammad Reza, additional, Babamahmoodi, Farhang, additional, Mokhames, Zakiye, additional, Soleimani, Alireza, additional, Elahi, Zohreh, additional, Ziaee, Masood, additional, Javanmard, Davod, additional, Ghafari, Shokouh, additional, Ezani, Akram, additional, Ansari Moghaddam, Alireza, additional, Shahraki-Sanavi, Fariba, additional, Hashemi Shahri, Seyed Mohammad, additional, Azaran, Azarakhsh, additional, Yousefi, Farid, additional, Moattari, Afagh, additional, Moghadami, Mohsen, additional, Fakhim, Hamed, additional, Ataei, Behrooz, additional, Nasri, Elahe, additional, Poortahmasebi, Vahdat, additional, Varshochi, Mojtaba, additional, Mojtahedi, Ali, additional, Jalilian, Farid, additional, Khazeni, Mohammad, additional, Moradi, Abdolvahab, additional, Tabarraei, Alijan, additional, Piroozmand, Ahmad, additional, Yahyapour, Yousef, additional, Bayani, Masoumeh, additional, Tavangar, Fatemeh, additional, Yaghoubi, Mahmood, additional, Keramat, Fariba, additional, Tavakoli, Mahsa, additional, Jalali, Tahmineh, additional, Pouriayevali, Mohammad Hassan, additional, Salehi-Vaziri, Mostafa, additional, Khorram Khorshid, Hamid Reza, additional, Najafipour, Reza, additional, Malekzadeh, Reza, additional, Kahrizi, Kimia, additional, Jazayeri, Seyed Mohammad, additional, and Najmabadi, Hossein, additional

Published
2022
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20. Bi‐allelic loss of function variant in the NRCAM gene is associated with motor‐predominant axonal polyneuropathy; the second report.

Author

Elahi, Zohreh, Soveyzi, Mohamad, Nafissi, Shahriar, Nilipour, Yalda, Goleyjani Moghadam, Masoumeh, Keshavarz, Elham, Kariminejad, Ariana, Najmabadi, Hossein, and Fattahi, Zohreh

Subjects
POLYNEUROPATHIES, GENETIC variation, HOMOZYGOSITY, CENTRAL nervous system, MOLECULAR spectra, DEVELOPMENTAL delay
Abstract

Background: The role of biallelic variants in the NRCAM gene underlying a neurodevelopmental disorder has been defined recently. The phenotype is mainly recognized by varying severity of global developmental delay/intellectual disability, hypotonia, spasticity, and peripheral neuropathy. Methods: Here, we describe a patient with an initial diagnosis of motor‐predominant axonal polyneuropathy or a form of distal SMA. Whole‐exome sequencing (WES), in parallel with WES‐based CNV detection and assessment of homozygosity runs, was performed to identify this patient's possible genetic cause. Results: Whole exome sequencing revealed a homozygous variant, c.73C > T (p.Gln25*), in the NRCAM gene, while the patient manifests a mild range of phenotypes compared to NRCAM‐related disorder. He presented only motor‐predominant axonal polyneuropathy with no other signs of central nervous system involvement. Conclusions: This study is the second report of an association between biallelic NRCAM gene variants and a Mendelian disorder. The obtained clinical data, together with the molecular findings in this patient, expands the clinical and molecular spectrum of NRCAM‐related disorder and highlights its phenotypic complexity. Although patients with loss of function variants in this gene have previously presented severe clinical features, we show that type of the pathogenic variant does not necessarily determine the severity of this phenotype. [ABSTRACT FROM AUTHOR]

Published
2023
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21. ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences

Author

Sumathipala, Dulika, primary, Strømme, Petter, additional, Fattahi, Zohreh, additional, Lüders, Torben, additional, Sheng, Ying, additional, Kahrizi, Kimia, additional, Einarsen, Ingunn Holm, additional, Sloan, Jennifer L, additional, Najmabadi, Hossein, additional, van den Heuvel, Lambert, additional, Wevers, Ron A, additional, Guerrero-Castillo, Sergio, additional, Mørkrid, Lars, additional, Valayannopoulos, Vassili, additional, Backe, Paul Hoff, additional, Venditti, Charles P, additional, van Karnebeek, Clara D, additional, Nilsen, Hilde, additional, Frengen, Eirik, additional, and Misceo, Doriana, additional

Published
2022
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22. Disease waves of SARS-CoV-2 in Iran closely mirror global pandemic trends

Author

Fattahi, Zohreh, primary, Mohseni, Marzieh, additional, Beheshtian, Maryam, additional, Jafarpour, Ali, additional, Jalalvand, Khadijeh, additional, Keshavarzi, Fatemeh, additional, Behravan, Hanieh, additional, Ghodratpour, Fatemeh, additional, Ashrafi, Farzane Zare, additional, Kalhor, Marzieh, additional, Azad, Maryam, additional, Koshki, Mahdieh, additional, Ghaziasadi, Azam, additional, Soveyzi, Mohamad, additional, Abdollahi, Alireza, additional, Kiani, Seyed Jalal, additional, Ataei-Pirkooh, Angila, additional, Rezaeiazhar, Iman, additional, Bokharaei-Salim, Farah, additional, Haghshenas, Mohammad Reza, additional, Babamahmoodi, Farhang, additional, Mokhames, Zakiye, additional, Soleimani, Alireza, additional, Elahi, Zohreh, additional, Ziaee, Masood, additional, Javanmard, Davod, additional, Ghafari, Shokouh, additional, Ezani, Akram, additional, AnsariMoghaddam, Alireza, additional, Shahraki-Sanavi, Fariba, additional, HashemiShahri, Seyed Mohammad, additional, Azaran, Azarakhsh, additional, Yousefi, Farid, additional, Moattari, Afagh, additional, Moghadami, Mohsen, additional, Fakhim, Hamed, additional, Ataei, Behrooz, additional, Nasri, Elahe, additional, Poortahmasebi, Vahdat, additional, Varshochi, Mojtaba, additional, Mojtahedi, Ali, additional, Jalilian, Farid, additional, khazeni, Mohammad, additional, Moradi, Abdolvahab, additional, Tabarraei, Alijan, additional, Piroozmand, Ahmad, additional, Yahyapour, Yousef, additional, Bayani, Masoumeh, additional, Tavangar, Fatemeh, additional, Yaghoubi, Mahmood, additional, Keramat, Fariba, additional, Tavakoli, Mahsa, additional, Jalali, Tahmineh, additional, Pouriayevali, Mohammad Hassan, additional, Salehi-Vaziri, Mostafa, additional, Khorram Khorshid, Hamid Reza, additional, Najafipour, Reza, additional, Malekzadeh, Reza, additional, Kahrizi, Kimia, additional, Jazayeri, Seyed Mohammad, additional, and Najmabadi, Hossein, additional

Published
2021
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23. SARS‐CoV‐2 outbreak in Iran: The dynamics of the epidemic and evidence on two independent introductions

Author

Fattahi, Zohreh, primary, Mohseni, Marzieh, additional, Jalalvand, Khadijeh, additional, Aghakhani Moghadam, Fatemeh, additional, Ghaziasadi, Azam, additional, Keshavarzi, Fatemeh, additional, Yavarian, Jila, additional, Jafarpour, Ali, additional, Mortazavi, Seyedeh Elham, additional, Ghodratpour, Fatemeh, additional, Behravan, Hanieh, additional, Khazeni, Mohammad, additional, Momeni, Seyed Amir, additional, Jahanzad, Issa, additional, Moradi, Abdolvahab, additional, Tabarraei, Alijan, additional, Azimi, Sadegh Ali, additional, Kord, Ebrahim, additional, Hashemi‐Shahri, Seyed Mohammad, additional, Azaran, Azarakhsh, additional, Yousefi, Farid, additional, Mokhames, Zakiye, additional, Soleimani, Alireza, additional, Ghafari, Shokouh, additional, Ziaee, Masood, additional, Habibzadeh, Shahram, additional, Jeddi, Farhad, additional, Hadadi, Azar, additional, Abdollahi, Alireza, additional, Kaydani, Gholam Abbas, additional, Soltani, Saber, additional, Mokhtari‐Azad, Talat, additional, Najafipour, Reza, additional, Malekzadeh, Reza, additional, Kahrizi, Kimia, additional, Jazayeri, Seyed Mohammad, additional, and Najmabadi, Hossein, additional

Published
2021
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24. CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families

Author

Khoshbakht, Shahrouz, primary, Beheshtian, Maryam, additional, Fattahi, Zohreh, additional, Bazazzadegan, Niloofar, additional, Parsimehr, Elham, additional, Fadaee, Mahsa, additional, Vazehan, Raheleh, additional, Faraji Zonooz, Mehrshid, additional, Abolhassani, Ayda, additional, Makvand, Mina, additional, Kariminejad, Ariana, additional, Celik, Arzu, additional, Kahrizi, Kimia, additional, and Najmabadi, Hossein, additional

Published
2021
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27. Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Author

Najmabadi, Hossein, Hu, Hao, Garshasbi, Masoud, Zemojtel, Tomasz, Abedini, Seyedeh Sedigheh, Chen, Wei, Hosseini, Masoumeh, Behjati, Farkhondeh, Haas, Stefan, Jamali, Payman, Zecha, Agnes, Mohseni, Marzieh, Püttmann, Lucia, Vahid, Leyla Nouri, Jensen, Corinna, Moheb, Lia Abbasi, Bienek, Melanie, Larti, Farzaneh, Mueller, Ines, Weissmann, Robert, Darvish, Hossein, Wrogemann, Klaus, Hadavi, Valeh, Lipkowitz, Bettina, Esmaeeli-Nieh, Sahar, Wieczorek, Dagmar, Kariminejad, Roxana, Firouzabadi, Saghar Ghasemi, Cohen, Monika, Fattahi, Zohreh, Rost, Imma, Mojahedi, Faezeh, Hertzberg, Christoph, Dehghan, Atefeh, Rajab, Anna, Banavandi, Mohammad Javad Soltani, Hoffer, Julia, Falah, Masoumeh, Musante, Luciana, Kalscheuer, Vera, Ullmann, Reinhard, Kuss, Andreas Walter, Tzschach, Andreas, Kahrizi, Kimia, and Ropers, Hilger H.

Published
2011
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29. Two independent introductions of SARS-CoV-2 into the Iranian outbreak

Author

Fattahi, Zohreh, primary, Mohseni, Marzieh, additional, Jalalvand, Khadijeh, additional, Moghadam, Fatemeh Aghakhani, additional, Ghaziasadi, Azam, additional, Keshavarzi, Fatemeh, additional, Yavarian, Jila, additional, Jafarpour, Ali, additional, Mortazavi, Seyedeh elham, additional, Ghodratpour, Fatemeh, additional, Behravan, Hanieh, additional, Khazeni, Mohammad, additional, Momeni, Seyed Amir, additional, Jahanzad, Issa, additional, Moradi, Abdolvahab, additional, Tabarraei, Alijan, additional, Azimi, Sadegh Ali, additional, Kord, Ebrahim, additional, Hashemi-Shahri, Seyed Mohammad, additional, Azaran, Azarakhsh, additional, Yousefi, Farid, additional, Mokhames, Zakiye, additional, Soleimani, Alireza, additional, Ghafari, Shokouh, additional, Ziaee, Masood, additional, Habibzadeh, Shahram, additional, Jeddi, Farhad, additional, Hadadi, Azar, additional, Abdollahi, Alireza, additional, Kaydani, Gholam Abbas, additional, Soltani, Saber, additional, Mokhtari-Azad, Talat, additional, Najafipour, Reza, additional, Malekzadeh, Reza, additional, Kahrizi, Kimia, additional, Jazayeri, Seyed Mohammad, additional, and Najmabadi, Hossein, additional

Published
2020
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30. Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients

Author

Beheshtian, Maryam, primary, Akhtarkhavari, Tara, additional, Mehvari, Sepideh, additional, Mohseni, Marzieh, additional, Fattahi, Zohreh, additional, Abedini, Seyedeh Sedigheh, additional, Arzhangi, Sanaz, additional, Fadaee, Mahsa, additional, Jamali, Payman, additional, Najafipour, Reza, additional, Kalscheuer, Vera M., additional, Hu, Hao, additional, Ropers, Hans‐Hilger, additional, Najmabadi, Hossein, additional, and Kahrizi, Kimia, additional

Published
2020
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31. Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability

Author

Mehvari, Sepideh, primary, Larti, Farzaneh, additional, Hu, Hao, additional, Fattahi, Zohreh, additional, Beheshtian, Maryam, additional, Abedini, Seyedeh Sedigheh, additional, Arzhangi, Sanaz, additional, Ropers, Hans‐Hilger, additional, Kalscheuer, Vera M., additional, Auld, Daniel, additional, Kahrizi, Kimia, additional, Riazalhosseini, Yasser, additional, and Najmabadi, Hossein, additional

Published
2020
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32. Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period

Author

BAZAZZADEGAN, Niloofar, primary, VAZEHAN, Raheleh, additional, FADAEE, Mahsa, additional, FATTAHI, Zohreh, additional, ABOLHASSANI, Ayda, additional, PARSIMEHR, Elham, additional, KALHOR, Zahra, additional, ZONOOZ, Mehrshid FARAJI, additional, AHANGARI, Fatemeh, additional, DEHDAHSI, Shima, additional, SAMIEE, Farshide, additional, JAMALI, Payman, additional, HABIBI, Haleh, additional, NOURIZADEH, Younes, additional, MAHDAVI, Shokouh, additional, BEHESHTIAN, Maryam, additional, KARIMINEJAD, Ariana, additional, JH SMITH, Richard, additional, and NAJMABADI, Hossein, additional

Published
2020
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33. Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum

Author

Taghizadeh, Sara, primary, Vazehan, Raheleh, additional, Beheshtian, Maryam, additional, Sadeghinia, Farnaz, additional, Fattahi, Zohreh, additional, Mohseni, Marzieh, additional, Arzhangi, Sanaz, additional, Nafissi, Shahriar, additional, Kariminejad, Ariana, additional, Najmabadi, Hossein, additional, and Kahrizi, Kimia, additional

Published
2020
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34. SARS-CoV-2 outbreak in Iran: The dynamics of the epidemic and evidence on two independent introductions.

Author

Fattahi, Zohreh, Mohseni, Marzieh, Jalalvand, Khadijeh, Moghadam, Fatemeh Aghakhani, Ghaziasadi, Azam, Keshavarzi, Fatemeh, Yavarian, Jila, Jafarpour, Ali, Mortazavi, Seyedeh Elham, Ghodratpour, Fatemeh, Behravan, Hanieh, Khazeni, Mohammad, Momeni, Seyed Amir, Jahanzad, Issa, Moradi, Abdolvahab, Tabarraei, Alijan, Azimi, Sadegh Ali, Kord, Ebrahim, Hashemi-Shahri, Seyed Mohammad, and Azaran, Azarakhsh

Subjects
*COVID-19, *VIRAL transmission, *SARS-CoV-2, *INFECTIOUS disease transmission, *PANDEMICS, *VIRAL variation, *EPIDEMICS
Abstract

The SARS-CoV-2 virus has been rapidly spreading globally since December 2019, triggering a pandemic, soon after its emergence. While Iran was among the first countries confronted with rapid spread of virus in February 2020, no real-time SARS-CoV-2 whole-genome tracking in early phase of outbreak was performed in the country. To address this issue, we provided 50 whole-genome sequences of viral isolates ascertained from different geographical locations in Iran during March-July 2020. The corresponding analysis on origins, transmission dynamics and genetic diversity of SARS-CoV-2 virus, represented at least two introductions of the virus into the country, constructing two major clusters defined as B.4 and B.1*. The first entry of the virus might have occurred around very late 2019/early 2020, as suggested by the time to the most recent common ancestor, followed by a rapid community transmission that led to dominancy of B.4 lineage in early epidemic till the end of June. Gradually, reduction in dominancy of B.4 occurred possibly as a result of other entries of the virus, followed by surge of B.1* lineages, as of mid-May. Remarkably, variation tracking of the virus indicated the increase in frequency of D614G mutation, along with B.1* lineages, which showed continuity till October 2020. The increase in frequency of D614G mutation and B.1* lineages from mid-May onwards predicts a rapid viral transmission that may push the country into a critical health situation followed by a considerable change in composition of viral lineages circulating in the country. [ABSTRACT FROM AUTHOR]

Published
2022
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35. Distinct genetic variation and heterogeneity of the Iranian population

Author

Mehrjoo, Zohreh, primary, Fattahi, Zohreh, additional, Beheshtian, Maryam, additional, Mohseni, Marzieh, additional, Poustchi, Hossein, additional, Ardalani, Fariba, additional, Jalalvand, Khadijeh, additional, Arzhangi, Sanaz, additional, Mohammadi, Zahra, additional, Khoshbakht, Shahrouz, additional, Najafi, Farid, additional, Nikuei, Pooneh, additional, Haddadi, Mohammad, additional, Zohrehvand, Elham, additional, Oladnabi, Morteza, additional, Mohammadzadeh, Akbar, additional, Jafari, Mandana Hadi, additional, Akhtarkhavari, Tara, additional, Gooshki, Ehsan Shamsi, additional, Haghdoost, Aliakbar, additional, Najafipour, Reza, additional, Niestroj, Lisa-Marie, additional, Helwing, Barbara, additional, Gossmann, Yasmina, additional, Toliat, Mohammad Reza, additional, Malekzadeh, Reza, additional, Nürnberg, Peter, additional, Kahrizi, Kimia, additional, Najmabadi, Hossein, additional, and Nothnagel, Michael, additional

Published
2019
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36. Iranome: A catalog of genomic variations in the Iranian population

Author

Fattahi, Zohreh, primary, Beheshtian, Maryam, additional, Mohseni, Marzieh, additional, Poustchi, Hossein, additional, Sellars, Erin, additional, Nezhadi, Sayyed Hossein, additional, Amini, Amir, additional, Arzhangi, Sanaz, additional, Jalalvand, Khadijeh, additional, Jamali, Peyman, additional, Mohammadi, Zahra, additional, Davarnia, Behzad, additional, Nikuei, Pooneh, additional, Oladnabi, Morteza, additional, Mohammadzadeh, Akbar, additional, Zohrehvand, Elham, additional, Nejatizadeh, Azim, additional, Shekari, Mohammad, additional, Bagherzadeh, Maryam, additional, Shamsi‐Gooshki, Ehsan, additional, Börno, Stefan, additional, Timmermann, Bernd, additional, Haghdoost, Aliakbar, additional, Najafipour, Reza, additional, Khorram Khorshid, Hamid Reza, additional, Kahrizi, Kimia, additional, Malekzadeh, Reza, additional, Akbari, Mohammad R., additional, and Najmabadi, Hossein, additional

Published
2019
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38. Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families

Author

Beheshtian, Maryam, primary, Fattahi, Zohreh, additional, Fadaee, Mahsa, additional, Vazehan, Raheleh, additional, Jamali, Payman, additional, Parsimehr, Elham, additional, Kamgar, Mahboubeh, additional, Zonooz, Mehrshid Faraji, additional, Mahdavi, Shokouh Sadat, additional, Kalhor, Zahra, additional, Arzhangi, Sanaz, additional, Abedini, Seyedeh Sedigheh, additional, Kermani, Farahnaz Sabbagh, additional, Mojahedi, Faezeh, additional, Kalscheuer, Vera M., additional, Ropers, Hans‐Hilger., additional, Kariminejad, Ariana, additional, Najmabadi, Hossein, additional, and Kahrizi, Kimia, additional

Published
2019
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39. Distinct genetic variation and heterogeneity of the Iranian population

Author

Mehrjoo, Zohreh, Fattahi, Zohreh, Beheshtian, Maryam, Mohseni, Marzieh, Poustchi, Hossein, Ardalani, Fariba, Jalalvand, Khadijeh, Arzhangi, Sanaz, Mohammadi, Zahra, Khoshbakht, Shahrouz, Najafi, Farid, Nikuei, Pooneh, Haddadi, Mohammad, Zohrehvand, Elham, Oladnabi, Morteza, Mohammadzadeh, Akbar, Jafari, Mandana Hadi, Akhtarkhavari, Tara, Gooshki, Ehsan Shamsi, Haghdoost, Aliakbar, Najafipour, Reza, Niestroj, Lisa-Marie, Helwing, Barbara, Gossmann, Yasmina, Toliat, Mohammad Reza, Malekzadeh, Reza, Nuernberg, Peter, Kahrizi, Kimia, Najmabadi, Hossein, Nothnagel, Michael, Mehrjoo, Zohreh, Fattahi, Zohreh, Beheshtian, Maryam, Mohseni, Marzieh, Poustchi, Hossein, Ardalani, Fariba, Jalalvand, Khadijeh, Arzhangi, Sanaz, Mohammadi, Zahra, Khoshbakht, Shahrouz, Najafi, Farid, Nikuei, Pooneh, Haddadi, Mohammad, Zohrehvand, Elham, Oladnabi, Morteza, Mohammadzadeh, Akbar, Jafari, Mandana Hadi, Akhtarkhavari, Tara, Gooshki, Ehsan Shamsi, Haghdoost, Aliakbar, Najafipour, Reza, Niestroj, Lisa-Marie, Helwing, Barbara, Gossmann, Yasmina, Toliat, Mohammad Reza, Malekzadeh, Reza, Nuernberg, Peter, Kahrizi, Kimia, Najmabadi, Hossein, and Nothnagel, Michael

Abstract

Iran, despite its size, geographic location and past cultural influence, has largely been a blind spot for human population genetic studies. With only sparse genetic information on the Iranian population available, we pursued its genome-wide and geographic characterization based on 1021 samples from eleven ethnic groups. We show that Iranians, while close to neighboring populations, present distinct genetic variation consistent with long-standing genetic continuity, harbor high heterogeneity and different levels of consanguinity, fall apart into a cluster of similar groups and several admixed ones and have experienced numerous language adoption events in the past. Our findings render Iran an important source for human genetic variation in Western and Central Asia, will guide adequate study sampling and assist the interpretation of putative disease-implicated genetic variation. Given Iran's internal genetic heterogeneity, future studies will have to consider ethnic affiliations and possible admixture. Author summary Based on genome-wide genotype data on over 1000 samples from eleven ethnic groups present in Iran and by comparison to reference data sets of both extant populations and ancient DNA samples, we show that the Iranian population comprises distinct genetic variation with respect to populations in close geographic proximity, a cluster of genetically largely overlapping ethnic groups as well as a number of strongly admixed groups. These observations, also corroborated by f3 migration statistics and other approaches, indicate genetic continuity of and limited influx into the cluster groups over several millennia, despite Iran's geographic position at a crossroads in West Asia. They also suggest, correspondingly, several instances of language adoption instead of demic replacement in the past. Future human genetic studies, both with a focus on population and medical genetics, will have to consider differences in heterogeneity, consanguinity and degree of admixtur

Published
2019

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

Author

Beheshtian, Maryam, Akhtarkhavari, Tara, Mehvari, Sepideh, Mohseni, Marzieh, Fattahi, Zohreh, Abedini, Seyedeh Sedigheh, Arzhangi, Sanaz, Fadaee, Mahsa, Jamali, Payman, Najafipour, Reza, Kalscheuer, Vera M., Hu, Hao, Ropers, Hans‐Hilger, Najmabadi, Hossein, and Kahrizi, Kimia

Subjects
IRANIANS, AGENESIS of corpus callosum, ADAPTOR proteins, SYNDROMES, SPEECH disorders, CORPUS callosum, EXOMES
Abstract

Mutations in adaptor protein complex‐4 (AP‐4) genes have first been identified in 2009, causing a phenotype termed as AP‐4 deficiency syndrome. Since then several patients with overlapping phenotypes, comprised of intellectual disability (ID) and spastic tetraplegia have been reported. To delineate the genotype‐phenotype correlation of the AP‐4 deficiency syndrome, we add the data from 30 affected individuals from 12 out of 640 Iranian families with ID in whom we detected disease‐causing variants in AP‐4 complex subunits, using next‐generation sequencing. Furthermore, by comparing genotype‐phenotype findings of those affected individuals with previously reported patients, we further refine the genotype‐phenotype correlation in this syndrome. The most frequent reported clinical findings in the 101 cases consist of ID and/or global developmental delay (97%), speech disorders (92.1%), inability to walk (90.1%), spasticity (77.2%), and microcephaly (75.2%). Spastic tetraplegia has been reported in 72.3% of the investigated patients. The major brain imaging findings are abnormal corpus callosum morphology (63.4%) followed by ventriculomegaly (44.5%). Our result might suggest the AP‐4 deficiency syndrome as a major differential diagnostic for unknown hereditary neurodegenerative disorders. [ABSTRACT FROM AUTHOR]

Published
2021
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44. Effect of inbreeding on intellectual disability revisited by trio sequencing

Author

Kahrizi, Kimia, primary, Hu, Hao, additional, Hosseini, Masoumeh, additional, Kalscheuer, Vera M., additional, Fattahi, Zohreh, additional, Beheshtian, Maryam, additional, Suckow, Vanessa, additional, Mohseni, Marzieh, additional, Lipkowitz, Bettina, additional, Mehvari, Sepideh, additional, Mehrjoo, Zohreh, additional, Akhtarkhavari, Tara, additional, Ghaderi, Zhila, additional, Rahimi, Maryam, additional, Arzhangi, Sanaz, additional, Jamali, Payman, additional, Falahat Chian, Milad, additional, Nikuei, Pooneh, additional, Sabbagh Kermani, Farahnaz, additional, Sadeghinia, Farnaz, additional, Jazayeri, Roshanak, additional, Tonekaboni, S. Hassan, additional, Khoshaeen, Atefeh, additional, Habibi, Haleh, additional, Pourfatemi, Fatemeh, additional, Mojahedi, Faezeh, additional, Khodaie‐Ardakani, Mohammad‐Reza, additional, Najafipour, Reza, additional, Wienker, Thomas F., additional, Najmabadi, Hossein, additional, and Ropers, Hans‐Hilger, additional

Published
2018
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45. CNKSR1gene defect can cause syndromic autosomal recessive intellectual disability

Author

Kazeminasab, Somayeh, primary, Taskiran, Ibrahim Ihsan, additional, Fattahi, Zohreh, additional, Bazazzadegan, Niloofar, additional, Hosseini, Masoumeh, additional, Rahimi, Maryam, additional, Oladnabi, Morteza, additional, Haddadi, Mohammad, additional, Celik, Arzu, additional, Ropers, Hans-Hilger, additional, Najmabadi, Hossein, additional, and Kahrizi, Kimia, additional

Published
2018
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46. Biallelic missense variants in ZBTB11 can cause intellectual disability in humans

Author

Fattahi, Zohreh, primary, Sheikh, Taimoor I, additional, Musante, Luciana, additional, Rasheed, Memoona, additional, Taskiran, Ibrahim Ihsan, additional, Harripaul, Ricardo, additional, Hu, Hao, additional, Kazeminasab, Somayeh, additional, Alam, Muhammad Rizwan, additional, Hosseini, Masoumeh, additional, Larti, Farzaneh, additional, Ghaderi, Zhila, additional, Celik, Arzu, additional, Ayub, Muhammad, additional, Ansar, Muhammad, additional, Haddadi, Mohammad, additional, Wienker, Thomas F, additional, Ropers, Hans Hilger, additional, Kahrizi, Kimia, additional, Vincent, John B, additional, and Najmabadi, Hossein, additional

Published
2018
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48. Genetics of intellectual disability in consanguineous families

Author

Hu, Hao, primary, Kahrizi, Kimia, additional, Musante, Luciana, additional, Fattahi, Zohreh, additional, Herwig, Ralf, additional, Hosseini, Masoumeh, additional, Oppitz, Cornelia, additional, Abedini, Seyedeh Sedigheh, additional, Suckow, Vanessa, additional, Larti, Farzaneh, additional, Beheshtian, Maryam, additional, Lipkowitz, Bettina, additional, Akhtarkhavari, Tara, additional, Mehvari, Sepideh, additional, Otto, Sabine, additional, Mohseni, Marzieh, additional, Arzhangi, Sanaz, additional, Jamali, Payman, additional, Mojahedi, Faezeh, additional, Taghdiri, Maryam, additional, Papari, Elaheh, additional, Soltani Banavandi, Mohammad Javad, additional, Akbari, Saeide, additional, Tonekaboni, Seyed Hassan, additional, Dehghani, Hossein, additional, Ebrahimpour, Mohammad Reza, additional, Bader, Ingrid, additional, Davarnia, Behzad, additional, Cohen, Monika, additional, Khodaei, Hossein, additional, Albrecht, Beate, additional, Azimi, Sarah, additional, Zirn, Birgit, additional, Bastami, Milad, additional, Wieczorek, Dagmar, additional, Bahrami, Gholamreza, additional, Keleman, Krystyna, additional, Vahid, Leila Nouri, additional, Tzschach, Andreas, additional, Gärtner, Jutta, additional, Gillessen-Kaesbach, Gabriele, additional, Varaghchi, Jamileh Rezazadeh, additional, Timmermann, Bernd, additional, Pourfatemi, Fatemeh, additional, Jankhah, Aria, additional, Chen, Wei, additional, Nikuei, Pooneh, additional, Kalscheuer, Vera M., additional, Oladnabi, Morteza, additional, Wienker, Thomas F., additional, Ropers, Hans-Hilger, additional, and Najmabadi, Hossein, additional

Published
2018
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49. Distinct Human Genetic Variation in Iran

Author

Mehrjoo, Zohreh, Fattahi, Zohreh, Beheshtian, Maryam, Gossmann, Yasmina, Helwing, Barbara, Niestroj, Lisa-Marie, Toliat, Mohammad Reza, Nuernberg, Peter, Kahrizi, Kimia, Najmabadi, Hossein, Nothnagel, Michael, Mehrjoo, Zohreh, Fattahi, Zohreh, Beheshtian, Maryam, Gossmann, Yasmina, Helwing, Barbara, Niestroj, Lisa-Marie, Toliat, Mohammad Reza, Nuernberg, Peter, Kahrizi, Kimia, Najmabadi, Hossein, and Nothnagel, Michael

Published
2017

50. Effect of inbreeding on intellectual disability revisited by trio sequencing.

Author

Kahrizi, Kimia, Hosseini, Masoumeh, Fattahi, Zohreh, Beheshtian, Maryam, Mohseni, Marzieh, Mehvari, Sepideh, Mehrjoo, Zohreh, Akhtarkhavari, Tara, Ghaderi, Zhila, Rahimi, Maryam, Arzhangi, Sanaz, Falahat Chian, Milad, Sadeghinia, Farnaz, Najmabadi, Hossein, Pourfatemi, Fatemeh, Mojahedi, Faezeh, Khodaie‐Ardakani, Mohammad‐Reza, Najafipour, Reza, Hu, Hao, and Kalscheuer, Vera M.

Subjects
GENETIC mutation, CONSANGUINITY, INTELLECTUAL disabilities, HOMOZYGOSITY, NUCLEOTIDE sequencing
Abstract

In outbred Western populations, most individuals with intellectual disability (ID) are sporadic cases, dominant de novo mutations (DNM) are frequent, and autosomal recessive ID (ARID) is very rare. Because of the high rate of parental consanguinity, which raises the risk for ARID and other recessive disorders, the prevalence of ID is significantly higher in near‐ and middle‐east countries. Indeed, homozygosity mapping and sequencing in consanguineous families have already identified a plethora of ARID genes, but because of the design of these studies, DNMs could not be systematically assessed, and the proportion of cases that are potentially preventable by avoiding consanguineous marriages or through carrier testing is hitherto unknown. This prompted us to perform whole‐exome sequencing in 100 sporadic ID patients from Iran and their healthy consanguineous parents. In 61 patients, we identified apparently causative changes in known ID genes. Of these, 44 were homozygous recessive and 17 dominant DNMs. Assuming that the DNM rate is stable, these results suggest that parental consanguinity raises the ID risk about 3.6‐fold, and about 4.1 to 4.25‐fold for children of first‐cousin unions. These results do not rhyme with recent opinions that consanguinity‐related health risks are generally small and have been "overstated" in the past. [ABSTRACT FROM AUTHOR]

Published
2019
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