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Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Maroofian R, Zamani M, Kaiyrzhanov R, Liebmann L, Karimiani EG, Vona B, Huebner AK, Calame DG, Misra VK, Sadeghian S, Azizimalamiri R, Mohammadi MH, Zeighami J, Heydaran S, Toosi MB, Akhondian J, Babaei M, Hashemi N, Schnur RE, Suri M, Setzke J, Wagner M, Brunet T, Grochowski CM, Emrick L, Chung WK, Hellmich UA, Schmidts M, Lupski JR, Galehdari H, Severino M, Houlden H, Hübner CA. Maroofian R, et al. Among authors: sadeghian s. Genet Med. 2024 Mar;26(3):101034. doi: 10.1016/j.gim.2023.101034. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054405 Free article.
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Becker A, Felici C, Lambert L, de Saint Martin A, Abi-Warde MT, Schaefer E, Zix C, Zamani M, Sadeghian S, Zeighami J, Seifi T, Azizimalamiri R, Shariati G, Galehdari H, Selig M, Ding C, Duerinckx S, Pirson I, Abramowicz M, Clément G, Leheup B, Jonveaux P, Lefort G, Bronner M, Renaud M, Bonnet C. Becker A, et al. Among authors: sadeghian s. Clin Genet. 2023 Mar;103(3):346-351. doi: 10.1111/cge.14264. Epub 2022 Dec 2. Clin Genet. 2023. PMID: 36371792 Free PMC article.
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
Dharmadhikari AV, Abad MA, Khan S, Maroofian R, Sands TT, Ullah F, Samejima I, Wear MA, Moore KE, Kondakova E, Mitina N, Schaub T, Lee GK, Umandap CH, Berger SM, Iglesias AD, Popp B, Jamra RA, Gabriel H, Rentas S, Rippert AL, Izumi K, Conlin LK, Koboldt DC, Mosher TM, Hickey SE, Albert DVF, Norwood H, Lewanda AF, Dai H, Liu P, Mitani T, Marafi D, Pehlivan D, Posey JE, Lippa N, Vena N, Heinzen EL, Goldstein DB, Mignot C, de Sainte Agathe JM, Al-Sannaa NA, Zamani M, Sadeghian S, Azizimalamiri R, Seifia T, Zaki MS, Abdel-Salam GMH, Abdel-Hamid M, Alabdi L, Alkuraya FS, Dawoud H, Lofty A, Bauer P, Zifarelli G, Afzal E, Zafar F, Efthymiou S, Gossett D, Towne MC, Yeneabat R, Wontakal SN, Aggarwal VS, Rosenfeld JA, Tarabykin V, Ohta S, Lupski JR, Houlden H, Earnshaw WC, Davis EE, Jeyaprakash AA, Liao J. Dharmadhikari AV, et al. Among authors: sadeghian s. medRxiv [Preprint]. 2024 Jan 9:2024.01.09.23300329. doi: 10.1101/2024.01.09.23300329. medRxiv. 2024. PMID: 38260255 Free PMC article. Preprint.
Heart surgery over two decades: what we have learned about results and changing risks.
Tajdini M, Behnoush AH, Pashang M, Jameie M, Khalaji A, Sadeghian S, Vasheghani-Farahani A, Poorhosseini H, Masoudkabir F, Hosseini K, Davoodi S, Sahebjam M, Barkhordari K, Ashraf H, Shafiei A, Karimi A; T. H. C. Surgery Databank Collaborators. Tajdini M, et al. Among authors: sadeghian s. BMC Cardiovasc Disord. 2024 Apr 5;24(1):195. doi: 10.1186/s12872-024-03860-9. BMC Cardiovasc Disord. 2024. PMID: 38580959 Free PMC article.
Sex-based association between high-density lipoprotein cholesterol and adverse outcomes after coronary artery bypass grafting.
Montazeri Namin S, Moradi A, Tavolinejad H, Vasheghani-Farahani A, Jalali A, Pashang M, Sadeghian S, Bagheri J, Mansourian S, Mehrani M, Hosseini K, Rashedi S, Tajdini M. Montazeri Namin S, et al. Among authors: sadeghian s. BMC Cardiovasc Disord. 2024 Apr 5;24(1):194. doi: 10.1186/s12872-024-03806-1. BMC Cardiovasc Disord. 2024. PMID: 38580951 Free PMC article.
The effectiveness of green heart application to manage modifiable risk factors of coronary artery disease in Tehran Heart Center: Study protocol for a randomized controlled trial.
Ghavami M, Sadeghian S, Ahmadi A, Lotfi-Tokaldany M, Ashoorkhani M, Haji Ali Asgari F. Ghavami M, et al. Among authors: sadeghian s. Heliyon. 2024 Mar 22;10(7):e28370. doi: 10.1016/j.heliyon.2024.e28370. eCollection 2024 Apr 15. Heliyon. 2024. PMID: 38560154 Free PMC article.
225 results