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49 results

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Page 1
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.
Vincke L, Van Schil K, Ahmadieh H, Moghaddasi A, Sabbaghi H, Daftarian N, Motevasseli T, Javanparast Sheykhani L, Dehghani M, Vahidi Mehrjardi MY, De Zaeytijd J, De Bruyne M, Mahieu Q, Al-Hajj E, Del Pozo-Valero M, Rosseel T, Van Heetvelde M, Maroofian R, Suri F, Bauwens M, De Baere E. Vincke L, et al. Among authors: vahidi mehrjardi my. NPJ Genom Med. 2025 Mar 7;10(1):19. doi: 10.1038/s41525-025-00473-9. NPJ Genom Med. 2025. PMID: 40055385 Free PMC article.
Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.
Kaiyrzhanov R, Thompson K, Efthymiou S, Mukushev A, Zharylkassyn A, Prasad C, Ghayoor Karimiani E, Alvi JR, Niyazov D, Alahmad A, Babaei M, Tajsharghi H, Albash B, Alaqeel A, Charif M, Hashemi N, Heidari M, Kalantar SM, Lenaers G, Vahidi Mehrjardi MY, Srinivasan VM, Gowda VK, Mirabutalebi SH, Carere DA, Movahedinia M, Murphy D, McFarland R, Abdel-Hamid MS, Elhossini RM, Alavi S, Napier M, Belanger-Quintana A, Prasad AN, Jakobczyk J, Roubertie A, Rupar T, Sultan T, Toosi MB, Sazanov L, Severino M, Houlden H, Taylor RW, Maroofian R. Kaiyrzhanov R, et al. Among authors: vahidi mehrjardi my. Brain Commun. 2024 Dec 17;7(1):fcae453. doi: 10.1093/braincomms/fcae453. eCollection 2025. Brain Commun. 2024. PMID: 39963288 Free PMC article.
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.
Maroofian R, Pagnamenta AT, Navabazam A, Schwessinger R, Roberts HE, Lopopolo M, Dehghani M, Vahidi Mehrjardi MY, Haerian A, Soltanianzadeh M, Noori Kooshki MH, Knight SJL, Miller KA, McGowan SJ, Chatron N, Timberlake AT, Melo US, Mundlos S, Buck D, Twigg SRF, Taylor JC, Wilkie AOM, Calpena E. Maroofian R, et al. Among authors: vahidi mehrjardi my. HGG Adv. 2024 Oct 10;5(4):100352. doi: 10.1016/j.xhgg.2024.100352. Epub 2024 Sep 10. HGG Adv. 2024. PMID: 39257002 Free PMC article.
An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disorders.
Ni C, Yu L, Vona B, Park D, Wei Y, Schmitz DA, Wei Y, Ding Y, Sakurai M, Ballard E, Liu Y, Kumar A, Xing C, Kim HG, Ekmekci C, Karimiani EG, Imannezhad S, Eghbal F, Badv RS, Schwaibold EMC, Dehghani M, Mehrjardi MYV, Metanat Z, Eslamiyeh H, Khouj E, Alhajj SMN, Chedrawi A, Alves CAPF, Houlden H, Kruer M, Alkuraya FS, Cenik C, Maroofian R, Wu J, Buszczak M. Ni C, et al. Among authors: mehrjardi myv. bioRxiv [Preprint]. 2024 Jan 9:2024.01.09.574708. doi: 10.1101/2024.01.09.574708. bioRxiv. 2024. PMID: 38260472 Free PMC article. Preprint.
49 results