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Year Number of Results
2016 2
2017 4
2018 5
2019 6
2020 9
2021 4
2022 9
2023 6
2024 8
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2026 1

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54 results

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Page 1
A programmed decline in ribosome levels governs human early neurodevelopment.
Ni C, Wei Y, Vona B, Park D, Wei Y, Schmitz DA, Ding Y, Sakurai M, Ballard E, Li L, Liu Y, Kumar A, Xing C, Qin S, Kim S, Foglizzo M, Zhao J, 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, Ramzan K, Hashmi JA, Alluqmani MM, Basit S, Veltra D, Marinakis NM, Niotakis G, Vorgia P, Sofocleous C, Lee H, Jeong WC, Umair M, Bilal M, Alves CAPF, Sieber M, Kruer M, Houlden H, Alkuraya FS, Zeqiraj E, Greenberg RA, Cenik C, Yu L, Maroofian R, Wu J, Buszczak M. Ni C, et al. Nat Cell Biol. 2025 Aug;27(8):1240-1255. doi: 10.1038/s41556-025-01708-8. Epub 2025 Aug 4. Nat Cell Biol. 2025. PMID: 40760247 Free PMC article.
ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Dore R, Chang CT, Declève A, Brunori G, Ludlam WG, Huang A, Movahedinia M, Damseh NS, Anwar I, Vahidi Mehrjardi MY, Ny A, Khorrami M, Kheirollahi M, Frederiksen H, Eghbal F, Mirjalili MR, Dehghani M, Karimiani EG, Oreshkov S, Alves C, Striano P, Suri M, Martinez-Agosto J, Ansar M, Zahid M, Akram S, Ansar M, Nelson SF; Undiagnosed Diseases Network; Antonarakis SE, Houlden H, Copmans D, Martemyanov KA, Maroofian R. Dore R, et al. Genet Med. 2025 Sep;27(9):101506. doi: 10.1016/j.gim.2025.101506. Epub 2025 Jun 23. Genet Med. 2025. PMID: 40576023 Free PMC article.
Molecular biomarkers in diabetes mellitus (DM).
Aghaei Zarch SM, Dehghan Tezerjani M, Talebi M, Vahidi Mehrjardi MY. Aghaei Zarch SM, et al. Med J Islam Repub Iran. 2020 Apr 1;34:28. doi: 10.34171/mjiri.34.28. eCollection 2020. Med J Islam Repub Iran. 2020. PMID: 32617267 Free PMC article. Review.
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. 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.
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. Brain Commun. 2024 Dec 17;7(1):fcae453. doi: 10.1093/braincomms/fcae453. eCollection 2025. Brain Commun. 2024. PMID: 39963288 Free PMC article.
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Christensen MB, Levy AM, Mohammadi NA, Niceta M, Kaiyrzhanov R, Dentici ML, Al Alam C, Alesi V, Benoit V, Bhatia KP, Bierhals T, Boßelmann CM, Buratti J, Callewaert B, Ceulemans B, Charles P, De Wachter M, Dehghani M, D'haenens E, Doco-Fenzy M, Geßner M, Gobert C, Guliyeva U, Haack TB, Hammer TB, Heinrich T, Hempel M, Herget T, Hoffmann U, Horvath J, Houlden H, Keren B, Kresge C, Kumps C, Lederer D, Lermine A, Magrinelli F, Maroofian R, Vahidi Mehrjardi MY, Moudi M, Müller AJ, Oostra AJ, Pletcher BA, Ros-Pardo D, Samarasekera S, Tartaglia M, Van Schil K, Vogt J, Wassmer E, Winkelmann J, Zaki MS, Zech M, Lerche H, Radio FC, Gomez-Puertas P, Møller RS, Tümer Z. Christensen MB, et al. Clin Genet. 2022 Aug;102(2):98-109. doi: 10.1111/cge.14165. Epub 2022 Jun 8. Clin Genet. 2022. PMID: 35616059 Free PMC article.
GGPS1-associated muscular dystrophy with and without hearing loss.
Kaiyrzhanov R, Perry L, Rocca C, Zaki MS, Hosny H, Araujo Martins Moreno C, Phadke R, Zaharieva I, Camelo Gontijo C, Beetz C, Pini V, Movahedinia M, Zanoteli E, DiTroia S, Vuillaumier-Barrot S, Isapof A, Mehrjardi MYV, Ghasemi N, Sarkozy A, Muntoni F, Whalen S, Vona B, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Ann Clin Transl Neurol. 2022 Sep;9(9):1465-1474. doi: 10.1002/acn3.51633. Epub 2022 Jul 23. Ann Clin Transl Neurol. 2022. PMID: 35869884 Free PMC article.
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum.
Kaiyrzhanov R, Wortmann S, Reid T, Dehghani M, Vahidi Mehrjardi MY, Alhaddad B, Wagner M, Deschauer M, Cordts I, Fernandez-Murray JP, Treffer V, Metanat Z, Pitman A, Houlden H, Meitinger T, Carroll C, McMaster CR, Maroofian R. Kaiyrzhanov R, et al. Brain. 2021 Apr 12;144(3):e30. doi: 10.1093/brain/awaa442. Brain. 2021. PMID: 33454747 Free PMC article. No abstract available.
54 results