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Page 1
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.
Derrick CJ, Szenker-Ravi E, Santos-Ledo A, Alqahtani A, Yusof A, Eley L, Coleman AHL, Tohari S, Ng AY, Venkatesh B, Alharby E, Mansard L, Bonnet-Dupeyron MN, Roux AF, Vaché C, Roume J, Bouvagnet P, Almontashiri NAM, Henderson DJ, Reversade B, Chaudhry B. Derrick CJ, et al. Hum Mol Genet. 2024 Jan 7;33(2):150-169. doi: 10.1093/hmg/ddad171. Hum Mol Genet. 2024. PMID: 37815931 Free PMC article.
Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.
Westrip CAE, Paul F, Al-Murshedi F, Qaitoon H, Cham B, Fletcher SC, Hendrix E, Boora U, Ng AYJ, Bonnard C, Najafi M, Alawbathani S, Lambert I, Fox G, Venkatesh B, Bertoli-Avella A, Tan ES, Al-Maawali A, Reversade B, Coleman ML. Westrip CAE, et al. Among authors: ng ayj. Genet Med. 2023 Sep;25(9):100893. doi: 10.1016/j.gim.2023.100893. Epub 2023 May 11. Genet Med. 2023. PMID: 37179472 Free article.
Publisher Correction: Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
Szenker-Ravi E, Ott T, Khatoo M, Moreau de Bellaing A, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G, Anujan P, Ravi V, Bonnard C, Moutton S, Schoen P, Fradin M, Colin E, Megarbane A, Daou L, Chehab G, Di Filippo S, Rooryck C, Deleuze JF, Boland A, Arribard N, Eker R, Tohari S, Ng AY, Rio M, Lim CT, Eisenhaber B, Eisenhaber F, Venkatesh B, Amiel J, Crollius HR, Gordon CT, Gossler A, Roy S, Attie-Bitach T, Blum M, Bouvagnet P, Reversade B. Szenker-Ravi E, et al. Nat Genet. 2022 Jun;54(6):906. doi: 10.1038/s41588-022-01053-8. Nat Genet. 2022. PMID: 35304595 No abstract available.
Ermin deficiency leads to compromised myelin, inflammatory milieu, and susceptibility to demyelinating insult.
Ziaei A, Garcia-Miralles M, Radulescu CI, Sidik H, Silvin A, Bae HG, Bonnard C, Yusof NABM, Ferrari Bardile C, Tan LJ, Ng AYJ, Tohari S, Dehghani L, Henry L, Yeo XY, Lee S, Venkatesh B, Langley SR, Shaygannejad V, Reversade B, Jung S, Ginhoux F, Pouladi MA. Ziaei A, et al. Among authors: ng ayj. Brain Pathol. 2022 Sep;32(5):e13064. doi: 10.1111/bpa.13064. Epub 2022 Mar 13. Brain Pathol. 2022. PMID: 35285112 Free PMC article.
Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities - Renal Asian Genetics Network (DRAGoN).
Lu L, Yap YC, Nguyen DQ, Chan YH, Ng JL, Zhang YC, Chan CY, Than M, Liu ID, Asim S, Moorani K, Naeem B, Ijaz I, Nguyen TMT, Lee ML, Eng C, Huque SS, Ng YH, Ganesan I, Chao SM, Chong SL, Tan PH, Loh A, Davila S, Kumar V, Ling JZ, Moorakonda RB, Tan KM, Ng AY, Poon KS, Schaefer F, Lipska-Zietkiewicz B, Yap HK, Ng KH; Deciphering Diversities: Renal Asian Genetics Network (DRAGoN). Lu L, et al. Clin Genet. 2022 May;101(5-6):541-551. doi: 10.1111/cge.14116. Epub 2022 Feb 1. Clin Genet. 2022. PMID: 35064937
25 results