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21 results

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Page 1
Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder.
Mattioli F, Worpenberg L, Li CT, Ibrahim N, Naz S, Sharif S, Firouzabadi SG, Vosoogh S, Saraeva-Lamri R, Raymond L, Trujillo C, Guex N, Antonarakis SE, Ansar M, Darvish H, Liu RJ, Roignant JY, Reymond A. Mattioli F, et al. Among authors: firouzabadi sg. Genet Med. 2023 Sep;25(9):100900. doi: 10.1016/j.gim.2023.100900. Epub 2023 May 21. Genet Med. 2023. PMID: 37226891 Free article.
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH. Najmabadi H, et al. Among authors: firouzabadi sg. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423. Nature. 2011. PMID: 21937992
ANXA1 with Anti-Inflammatory Properties Might Contribute to Parkinsonism.
Darvish H, Azcona LJ, Taghavi S, Firouzabadi SG, Tafakhori A, Alehabib E, Mohajerani F, Zardadi S, Paisán-Ruiz C. Darvish H, et al. Among authors: firouzabadi sg. Ann Neurol. 2021 Aug;90(2):319-323. doi: 10.1002/ana.26148. Epub 2021 Jul 12. Ann Neurol. 2021. PMID: 34180078
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
Calame DG, Bakhtiari S, Logan R, Coban-Akdemir Z, Du H, Mitani T, Fatih JM, Hunter JV, Herman I, Pehlivan D, Jhangiani SN, Person R, Schnur RE, Jin SC, Bilguvar K, Posey JE, Koh S, Firouzabadi SG, Alehabib E, Tafakhori A, Esmkhani S, Gibbs RA, Noureldeen MM, Zaki MS, Marafi D, Darvish H, Kruer MC, Lupski JR. Calame DG, et al. Among authors: firouzabadi sg. Genet Med. 2021 Dec;23(12):2455-2460. doi: 10.1038/s41436-021-01291-x. Epub 2021 Aug 12. Genet Med. 2021. PMID: 34385670 Free PMC article.
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Klöckner C, Fernández-Murray JP, Tavasoli M, Sticht H, Stoltenburg-Didinger G, Scholle LM, Bakhtiari S, Kruer MC, Darvish H, Firouzabadi SG, Pagnozzi A, Shukla A, Girisha KM, Narayanan DL, Kaur P, Maroofian R, Zaki MS, Noureldeen MM, Merkenschlager A, Gburek-Augustat J, Cali E, Banu S, Nahar K, Efthymiou S, Houlden H, Jamra RA, Williams J, McMaster CR, Platzer K. Klöckner C, et al. Among authors: firouzabadi sg. Brain. 2022 Jun 30;145(6):1916-1923. doi: 10.1093/brain/awac074. Brain. 2022. PMID: 35202461 Free PMC article.
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
Bisarad P, Wang YC, Skidmore PT, Galaz-Montoya CI, Lewis SA, Alhaddad B, Kong N, Julian D, Magee H, Kruer TN, Xie Y, Zheng W, Li B, Rajabpour FV, Liu J, Revanur A, Bakur K, Firouzabadi SG, Sharbatkhori S, Tafakhori A, Taghiabadi E, Nezaminargabad E, Vosoogh S, Jamshidi J, Arefnia S, Hosseini SA, Khajehmirzaei A, Jamali F, Ahmadifard A, Khodadadi H, Daneshmand P, Bohlega S, Maddirevula S, Nadeef SS, Hashem MO, Salih MA, Mohmed IN, Sticht H, Morias SP, Damásio J, Santos M, Loureiro JL, Rodrigues R, Stevanin G, Benkirane M, Dauriat B, Head N, Baptista J, Shahhosseini S, Mohammad F, Zhao H, Padilla-Lopez S, Alkuraya F, Bakhtiari S, Kruer MC, Jin SC, Darvish H. Bisarad P, et al. Among authors: firouzabadi sg. medRxiv [Preprint]. 2025 Nov 6:2025.11.04.25339178. doi: 10.1101/2025.11.04.25339178. medRxiv. 2025. PMID: 41282771 Free PMC article. Preprint.
Exceptional human core promoter nucleotide compositions.
Darvish H, Nabi MO, Firouzabadi SG, Karimlou M, Heidari A, Najmabadi H, Ohadi M. Darvish H, et al. Among authors: firouzabadi sg. Gene. 2011 Apr 15;475(2):79-86. doi: 10.1016/j.gene.2010.12.013. Epub 2011 Jan 26. Gene. 2011. PMID: 21277957
Novel evidence of the involvement of calreticulin in major psychiatric disorders.
Ohadi M, Mirabzadeh A, Esmaeilzadeh-Gharehdaghi E, Rezazadeh M, Hosseinkhanni S, Oladnabi M, Firouzabadi SG, Darvish H. Ohadi M, et al. Among authors: firouzabadi sg. Prog Neuropsychopharmacol Biol Psychiatry. 2012 Jun 1;37(2):276-81. doi: 10.1016/j.pnpbp.2012.02.007. Epub 2012 Feb 21. Prog Neuropsychopharmacol Biol Psychiatry. 2012. PMID: 22507216
21 results