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Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Polla DL, Farazi Fard MA, Tabatabaei Z, Habibzadeh P, Levchenko OA, Nikuei P, Makrythanasis P, Hussain M, von Hardenberg S, Zeinali S, Fallah MS, Schuurs-Hoeijmakers JHM, Shahzad M, Fatima F, Fatima N, Kaat LD, Bruggenwirth HT, Fleming LR, Condie J, Ploski R, Pollak A, Pilch J, Demina NA, Chukhrova AL, Sergeeva VS, Venselaar H, Masri AT, Hamamy H, Santoni FA, Linda K, Ahmed ZM, Nadif Kasri N, de Brouwer APM, Bergmann AK, Hethey S, Yavarian M, Ansar M, Riazuddin S, Riazuddin S, Silawi M, Ruggeri G, Pirozzi F, Eftekhar E, Taghipour Sheshdeh A, Bahramjahan S, Mirzaa GM, Lavrov AV, Antonarakis SE, Faghihi MA, van Bokhoven H. Polla DL, et al. Among authors: nikuei p. Genet Med. 2021 Jul;23(7):1246-1254. doi: 10.1038/s41436-021-01133-w. Epub 2021 Apr 6. Genet Med. 2021. PMID: 33824500 Free PMC article.
Prenatal diagnosis of Sex determining region Y -box transcription factor 2 anophthalmia syndrome caused by germline mosaicism using next-generation sequencing: A case report.
Nikuei P, Ph D, Khashavy Z, Ali Farazi Fard M, Tabasi S, Zeidi B Sc Student A, Pourkashani P, Tabatabaei Z, Eftekhar E, Saberi M, Mahjoubi F. Nikuei P, et al. Int J Reprod Biomed. 2023 Sep 20;21(8):667-672. doi: 10.18502/ijrm.v21i8.14022. eCollection 2023 Aug. Int J Reprod Biomed. 2023. PMID: 37885978 Free PMC article.
Effect of inbreeding on intellectual disability revisited by trio sequencing.
Kahrizi K, Hu H, Hosseini M, Kalscheuer VM, Fattahi Z, Beheshtian M, Suckow V, Mohseni M, Lipkowitz B, Mehvari S, Mehrjoo Z, Akhtarkhavari T, Ghaderi Z, Rahimi M, Arzhangi S, Jamali P, Falahat Chian M, Nikuei P, Sabbagh Kermani F, Sadeghinia F, Jazayeri R, Tonekaboni SH, Khoshaeen A, Habibi H, Pourfatemi F, Mojahedi F, Khodaie-Ardakani MR, Najafipour R, Wienker TF, Najmabadi H, Ropers HH. Kahrizi K, et al. Among authors: nikuei p. Clin Genet. 2019 Jan;95(1):151-159. doi: 10.1111/cge.13463. Epub 2018 Nov 19. Clin Genet. 2019. PMID: 30315573
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A, Fattahi Z, Beheshtian M, Fadaee M, Vazehan R, Ahangari F, Dehdahsi S, Faraji Zonooz M, Parsimehr E, Kalhor Z, Peymani F, Mozaffarpour Nouri M, Babanejad M, Noudehi K, Fatehi F, Zamanian Najafabadi S, Afroozan F, Yazdan H, Bozorgmehr B, Azarkeivan A, Sadat Mahdavi S, Nikuei P, Fatehi F, Jamali P, Ashrafi MR, Karimzadeh P, Habibi H, Kahrizi K, Nafissi S, Kariminejad A, Najmabadi H. Abolhassani A, et al. Among authors: nikuei p. NPJ Genom Med. 2024 Feb 19;9(1):12. doi: 10.1038/s41525-024-00393-0. NPJ Genom Med. 2024. PMID: 38374194 Free PMC article.
Genetics of intellectual disability in consanguineous families.
Hu H, Kahrizi K, Musante L, Fattahi Z, Herwig R, Hosseini M, Oppitz C, Abedini SS, Suckow V, Larti F, Beheshtian M, Lipkowitz B, Akhtarkhavari T, Mehvari S, Otto S, Mohseni M, Arzhangi S, Jamali P, Mojahedi F, Taghdiri M, Papari E, Soltani Banavandi MJ, Akbari S, Tonekaboni SH, Dehghani H, Ebrahimpour MR, Bader I, Davarnia B, Cohen M, Khodaei H, Albrecht B, Azimi S, Zirn B, Bastami M, Wieczorek D, Bahrami G, Keleman K, Vahid LN, Tzschach A, Gärtner J, Gillessen-Kaesbach G, Varaghchi JR, Timmermann B, Pourfatemi F, Jankhah A, Chen W, Nikuei P, Kalscheuer VM, Oladnabi M, Wienker TF, Ropers HH, Najmabadi H. Hu H, et al. Among authors: nikuei p. Mol Psychiatry. 2019 Jul;24(7):1027-1039. doi: 10.1038/s41380-017-0012-2. Epub 2018 Jan 4. Mol Psychiatry. 2019. PMID: 29302074
Distinct genetic variation and heterogeneity of the Iranian population.
Mehrjoo Z, Fattahi Z, Beheshtian M, Mohseni M, Poustchi H, Ardalani F, Jalalvand K, Arzhangi S, Mohammadi Z, Khoshbakht S, Najafi F, Nikuei P, Haddadi M, Zohrehvand E, Oladnabi M, Mohammadzadeh A, Jafari MH, Akhtarkhavari T, Gooshki ES, Haghdoost A, Najafipour R, Niestroj LM, Helwing B, Gossmann Y, Toliat MR, Malekzadeh R, Nürnberg P, Kahrizi K, Najmabadi H, Nothnagel M. Mehrjoo Z, et al. Among authors: nikuei p. PLoS Genet. 2019 Sep 24;15(9):e1008385. doi: 10.1371/journal.pgen.1008385. eCollection 2019 Sep. PLoS Genet. 2019. PMID: 31550250 Free PMC article.
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
Kariminejad A, Szenker-Ravi E, Lekszas C, Tajsharghi H, Moslemi AR, Naert T, Tran HT, Ahangari F, Rajaei M, Nasseri M, Haaf T, Azad A, Superti-Furga A, Maroofian R, Ghaderi-Sohi S, Najmabadi H, Abbaszadegan MR, Vleminckx K, Nikuei P, Reversade B. Kariminejad A, et al. Among authors: nikuei p. Am J Hum Genet. 2019 Dec 5;105(6):1294-1301. doi: 10.1016/j.ajhg.2019.10.013. Epub 2019 Nov 21. Am J Hum Genet. 2019. PMID: 31761294 Free PMC article.
20 results