Biblio

Author Title [ Type(Desc)] Year
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Journal Article
Silla T, Kepp K, E Tai S, Goh L, Davila S, Ivkovic TCatela, Calin GA, P Voorhoeve M. Allele Frequencies of Variants in Ultra Conserved Elements Identify Selective Pressure on Transcription Factor Binding. PLoS One. 2014;9(11):e110692.
Chan SHoai, Bylstra Y, Teo JXian, Kuan JLing, Bertin N, Gonzalez-Porta M, Hebrard M, Tirado-Magallanes R, Tan JHui Juan, Jeyakani J, et al. Analysis of clinically relevant variants from ancestrally diverse Asian genomes. Nat Commun. 2022;13(1):6694.
Zhang Y, Lu L, Hu Z, Dai Y, Ahmad NJannah Bin, Ng JLi, Chan CYien, Hossain MZakir, Loh AHwai Liang, Ward JM, et al. Angiomotin mutation causes glomerulopathy and renal cysts by upregulating hepatocyte nuclear factor transcriptional activity. Clin Transl Med. 2022;12(6):e904.
Moynihan D, Monaco S, Ting TWah, Narasimhalu K, Hsieh J, Kam S, Lim JYing, Lim WKhong, Davila S, Bylstra Y, et al. Author Correction: Analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases. Sci Rep. 2024;14(1):10084.
Moynihan D, Monaco S, Ting TWah, Narasimhalu K, Hsieh J, Kam S, Lim JYing, Lim WKhong, Davila S, Bylstra Y, et al. Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases. Sci Rep. 2024;14(1):5056.
Fan Q, Li H, Wang X, Tham Y-C, Teo KYi Chong, Yasuda M, Lim WKhong, Kwan YPing, Teo JXian, Chen C-J, et al. Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes. Nat Commun. 2023;14(1):5574.
Toh MRen, Chiang JBang, Chong STing, Chan SHoai, Ishak NDiana Bint, Courtney E, Lee WHao, Al SMuhammad F, Allen JCarson, Lim KHon, et al. Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer. JNCI Cancer Spectr. 2018;2(4):pky054.
Wu D, Dou J, Chai X, Bellis C, Wilm A, Shih CChuan, Soon WWei Jia, Bertin N, Lin CBitong, Khor CChuen, et al. Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore. Cell. 2019;179(3):736-749.e15.
S Y Wong E, Shekar S, Chan CHT, Hong LZ, Poon S-Y, Silla T, Lin C, Kumar V, Davila S, Voorhoeve M, et al. Predictive Factors for BRCA1 and BRCA2 Genetic Testing in an Asian Clinic-Based Population. PLoS One. 2015;10(7):e0134408.
Wong E, Bertin N, Hebrard M, Tirado-Magallanes R, Bellis C, Lim WKhong, Chua CYong, Tong PMei Lin, Chua R, Mak K, et al. The Singapore National Precision Medicine Strategy. Nat Genet. 2023.
Kumar V, Pouw RB, Autio MI, Sagmeister MG, Phua ZYang, Borghini L, Wright VJ, Hoggart C, Pan B, Tan AKiat Yee, et al. Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations. Am J Hum Genet. 2022.