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Whole genome sequencing reveals hidden transmission of carbapenemase-producing Enterobacterales.
Marimuthu K, Venkatachalam I, Koh V, Harbarth S, Perencevich E, Cherng BPZ, Fong RKC, Pada SK, Ooi ST, Smitasin N, Thoon KC, Tambyah PA, Hsu LY, Koh TH, De PP, Tan TY, Chan D, Deepak RN, Tee NWS, Kwa A, Cai Y, Teo YY, Thevasagayam NM, Prakki SRS, Xu W, Khong WX, Henderson D, Stoesser N, Eyre DW, Crook D, Ang M, Lin RTP, Chow A, Cook AR, Teo J, Ng OT; Carbapenemase-Producing Enterobacteriaceae in Singapore (CaPES) Study Group. Marimuthu K, et al. Among authors: tan ty. Nat Commun. 2022 Jun 1;13(1):3052. doi: 10.1038/s41467-022-30637-5. Nat Commun. 2022. PMID: 35650193 Free PMC article.
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
Stenton SL, Laricchia K, Lake NJ, Chaluvadi S, Ganesh V, DiTroia S, Osei-Owusu I, Pais L, O'Heir E, Austin-Tse C, O'Leary M, Abu Shanap M, Barrows C, Berger S, Bönnemann CG, Bujakowska KM, Campagna DR, Compton AG, Donkervoort S, Fleming MD, Gallacher L, Gleeson JG, Haliloglu G, Pierce EA, Place EM, Sankaran VG, Shimamura A, Stark Z, Tan TY, Thorburn DR, White SM; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Vilain E, Lek M, Rehm HL, O'Donnell-Luria A. Stenton SL, et al. Among authors: tan ty. medRxiv [Preprint]. 2024 Dec 26:2024.12.22.24319370. doi: 10.1101/2024.12.22.24319370. medRxiv. 2024. PMID: 39763565 Free PMC article. Preprint.
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.
Ball M, Bouffler SE, Barnett CB, Freckmann ML, Hunter MF, Kamien B, Kassahn KS, Lunke S, Patel CV, Pinner J, Roscioli T, Sandaradura SA, Scott HS, Tan TY, Wallis M, Compton AG, Thorburn DR, Stark Z, Christodoulou J. Ball M, et al. Among authors: tan ty. Genet Med. 2025 Jan;27(1):101293. doi: 10.1016/j.gim.2024.101293. Epub 2024 Oct 15. Genet Med. 2025. PMID: 39417332
461 results