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Page 1
Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management.
Bhatia NS, Lim JY, Bonnard C, Kuan JL, Brett M, Wei H, Cham B, Chin H, Bosso-Lefevre C, Dharuman P, Escande-Beillard N, Devasia AG, Goh CYJ, Kam S, Liew WK, Liew WK, Lin G, Jain K, Ng AY, Subramanian D, Xie M, Tan YM, Tawari NR, Tiang Z, Ting TW, Tohari S, Tong CK, Lezhava A, Ng SB, Law HY, Venkatesh B, Tomar S, Sethi R, Tan G, Shanmugasundaram A, Goh DL, Lai PS, Lai A, Tan ES, Ng I, Reversades B, Tan EC, Foo R, Jamuar SS; SUREKids Working Group. Bhatia NS, et al. Among authors: ng i, ng ay, ng sb. Arch Dis Child. 2021 Jan;106(1):31-37. doi: 10.1136/archdischild-2020-319180. Epub 2020 Aug 20. Arch Dis Child. 2021. PMID: 32819910
Whole exome sequencing identifies recessive germline mutations in FAM160A1 in familial NK/T cell lymphoma.
Chan JY, Ng AYJ, Cheng CL, Nairismägi ML, Venkatesh B, Cheah DMZ, Li ST, Chan SH, Ngeow J, Laurensia Y, Lim JQ, Pang JWL, Nagarajan S, Song T, Chia B, Tan J, Huang D, Goh YT, Poon E, Somasundaram N, Tao M, Quek RHH, Farid M, Khor CC, Bei JX, Tan SY, Lim ST, Ong CK, Tang T. Chan JY, et al. Blood Cancer J. 2018 Nov 12;8(11):111. doi: 10.1038/s41408-018-0149-5. Blood Cancer J. 2018. PMID: 30420729 Free PMC article. No abstract available.
Reversal of Phenotypic Abnormalities by CRISPR/Cas9-Mediated Gene Correction in Huntington Disease Patient-Derived Induced Pluripotent Stem Cells.
Xu X, Tay Y, Sim B, Yoon SI, Huang Y, Ooi J, Utami KH, Ziaei A, Ng B, Radulescu C, Low D, Ng AYJ, Loh M, Venkatesh B, Ginhoux F, Augustine GJ, Pouladi MA. Xu X, et al. Stem Cell Reports. 2017 Mar 14;8(3):619-633. doi: 10.1016/j.stemcr.2017.01.022. Epub 2017 Feb 23. Stem Cell Reports. 2017. PMID: 28238795 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. Among authors: ng ay, ng jl, ng kh, ng yh. Clin Genet. 2022 May;101(5-6):541-551. doi: 10.1111/cge.14116. Epub 2022 Feb 1. Clin Genet. 2022. PMID: 35064937
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. Brain Pathol. 2022 Sep;32(5):e13064. doi: 10.1111/bpa.13064. Epub 2022 Mar 13. Brain Pathol. 2022. PMID: 35285112 Free PMC article.
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. Among authors: ng ay. Hum Mol Genet. 2024 Jan 7;33(2):150-169. doi: 10.1093/hmg/ddad171. Hum Mol Genet. 2024. PMID: 37815931 Free PMC article.
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
Bonnard C, Shboul M, Tonekaboni SH, Ng AYJ, Tohari S, Ghosh K, Lai A, Lim JY, Tan EC, Devisme L, Stichelbout M, Alkindi A, Banu N, Yüksel Z, Ghoumid J, Elkhartoufi N, Boutaud L, Micalizzi A, Brett MS, Venkatesh B, Valente EM, Attié-Bitach T, Reversade B, Kariminejad A. Bonnard C, et al. Eur J Med Genet. 2018 Oct;61(10):585-595. doi: 10.1016/j.ejmg.2018.03.012. Epub 2018 Mar 30. Eur J Med Genet. 2018. PMID: 29605658
139 results