Elaine Lim to Humans
This is a "connection" page, showing publications Elaine Lim has written about Humans.
Connection Strength
0.492
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Goh KY, Tham SC, Cheng TY, Nadarajah R, Goh RCH, Wong SL, Ho TH, Chew GK, Tan AWK, Rajesh H, Chua HL, Yong TT, Yu SL, Kang JM, Lau KW, Tay AZE, Mantoo S, Busmanis I, Chew SH, Lim TYK, Wong WL, Ng QJ, Wang J, Tay SK, Cheok CF, Lim DW, Lim EH. Cell Migration in Endometriosis Responds to Omentum-Derived Molecular Cues Similar to Ovarian Cancer. Int J Mol Sci. 2025 Feb 20; 26(5).
Score: 0.035
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Dawes P, Barton NJ, Orszulak AR, Chigas SM, Tran K, Sundstrom J, Olson MN, Murray LF, Oh H, Church GM, Knipe DM, Readhead B, Chan Y, Lim ET. Basic Science and Pathogenesis. Alzheimers Dement. 2024 Dec; 20 Suppl 1:e092866.
Score: 0.034
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Sundstrom J, Vanderleeden E, Barton NJ, Redick SD, Dawes P, Murray LF, Olson MN, Tran K, Chigas SM, Orszulak AR, Church GM, Readhead B, Oh HS, Harlan DM, Knipe DM, Wang JP, Chan Y, Lim ET. Herpes Simplex Virus 1 Infection of Human Brain Organoids and Pancreatic Stem Cell-Islets Drives Organoid-Specific Transcripts Associated with Alzheimer's Disease and Autoimmune Diseases. Cells. 2024 11 29; 13(23).
Score: 0.034
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Dawes P, Murray LF, Olson MN, Barton NJ, Smullen M, Suresh M, Yan G, Zhang Y, Fernandez-Fontaine A, English J, Uddin M, Pak C, Church GM, Chan Y, Lim ET. oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids. Hum Genet. 2023 Aug; 142(8):1281-1291.
Score: 0.031
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Lim ET, Chan Y, Dawes P, Guo X, Erdin S, Tai DJC, Liu S, Reichert JM, Burns MJ, Chan YK, Chiang JJ, Meyer K, Zhang X, Walsh CA, Yankner BA, Raychaudhuri S, Hirschhorn JN, Gusella JF, Talkowski ME, Church GM. Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder. Nat Commun. 2022 06 10; 13(1):3243.
Score: 0.029
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Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM, Church GM, Scherer SW, Buxbaum JD, Walsh CA. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2017 09; 20(9):1217-1224.
Score: 0.021
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Lim ET, Liu YP, Chan Y, Tiinamaija T, K?r?j?m?ki A, Madsen E, Altshuler DM, Raychaudhuri S, Groop L, Flannick J, Hirschhorn JN, Katsanis N, Daly MJ. A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. Am J Hum Genet. 2014 Nov 06; 95(5):509-20.
Score: 0.017
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Lim ET, W?rtz P, Havulinna AS, Palta P, Tukiainen T, Rehnstr?m K, Esko T, M?gi R, Inouye M, Lappalainen T, Chan Y, Salem RM, Lek M, Flannick J, Sim X, Manning A, Ladenvall C, Bumpstead S, H?m?l?inen E, Aalto K, Maksimow M, Salmi M, Blankenberg S, Ardissino D, Shah S, Horne B, McPherson R, Hovingh GK, Reilly MP, Watkins H, Goel A, Farrall M, Girelli D, Reiner AP, Stitziel NO, Kathiresan S, Gabriel S, Barrett JC, Lehtim?ki T, Laakso M, Groop L, Kaprio J, Perola M, McCarthy MI, Boehnke M, Altshuler DM, Lindgren CM, Hirschhorn JN, Metspalu A, Freimer NB, Zeller T, Jalkanen S, Koskinen S, Raitakari O, Durbin R, MacArthur DG, Salomaa V, Ripatti S, Daly MJ, Palotie A. Distribution and medical impact of loss-of-function variants in the Finnish founder population. PLoS Genet. 2014 Jul; 10(7):e1004494.
Score: 0.017
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Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, Wang LS, Lin CF, Valladares O, Gabriel SB, dePristo M, Altshuler DM, Purcell SM, State MW, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Daly MJ. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 2013 Jan 23; 77(2):235-42.
Score: 0.015
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Liu S, Li L, Zhang F, Garcia-Corral M, Meyer K, Fortuna PRJ, van Sambeek B, Appleton E, Ng AHM, Khoshakhlagh P, Lu YR, Cameron J, Ramirez RN, Chen Y, Wu CT, Huang JY, Tan Y, Chao G, Aach J, Lim ET, Tam JM, Raychaudhuri S, Church GM. Iterative transcription factor screening enables rapid generation of microglia-like cells from human iPSC. Nat Commun. 2025 Jun 10; 16(1):5136.
Score: 0.009
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Readhead BP, Mastroeni DF, Wang Q, Sierra MA, de ?vila C, Jimoh TO, Haure-Mirande JV, Atanasoff KE, Nolz J, Suazo C, Barton NJ, Orszulak AR, Chigas SM, Tran K, Mirza A, Ryon K, Proszynski J, Najjar D, Dudley JT, Liu STH, Gandy S, Ehrlich ME, Alsop E, Antone J, Reiman R, Funk C, Best RL, Jhatro M, Kamath K, Shon J, Kowalik TF, Bennett DA, Liang WS, Serrano GE, Beach TG, Van Keuren-Jensen K, Mason CE, Chan Y, Lim ET, Tortorella D, Reiman EM. Alzheimer's disease-associated CD83(+) microglia are linked with increased immunoglobulin G4 and human cytomegalovirus in the gut, vagal nerve, and brain. Alzheimers Dement. 2025 Jan; 21(1):e14401.
Score: 0.009
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Sitjar PHS, Tan SY, Wong M, Li J, Jalil RBA, Aw H, Lim EH, Goh J. Combined aerobic and strength exercise training on biological ageing in Singaporean breast cancer patients: protocol for the Breast Cancer Exercise Intervention (BREXINT) Pilot Study. Geroscience. 2024 Dec; 46(6):6029-6038.
Score: 0.008
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Funes S, Jung J, Gadd DH, Mosqueda M, Zhong J, Unger M, Stallworth K, Cameron D, Rotunno MS, Dawes P, Fowler-Magaw M, Keagle PJ, McDonough JA, Boopathy S, Sena-Esteves M, Nickerson JA, Lutz C, Skarnes WC, Lim ET, Schafer DP, Massi F, Landers JE, Bosco DA. Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia. Nat Commun. 2024 Mar 20; 15(1):2497.
Score: 0.008
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Sarker S, Eshaque TB, Soorajkumar A, Nassir N, Zehra B, Kanta SI, Rahaman MA, Islam A, Akter S, Ali MK, Mim RA, Uddin KMF, Chowdhury MSJ, Shams N, Baqui MA, Lim ET, Akter H, Woodbury-Smith M, Uddin M. Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population. Sci Rep. 2023 12 06; 13(1):21547.
Score: 0.008
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Ho PJ, Khng AJ, Tan BK, Lim GH, Tan SM, Tan VKM, Tan RSYC, Lim EH, Iau PT, Chew YJ, Lim YY, Hartman M, Tan EY, Li J. Alterations to DNA methylation patterns induced by chemotherapy treatment are associated with negative impacts on the olfactory pathway. Breast Cancer Res. 2023 11 06; 25(1):136.
Score: 0.008
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Ho PJ, Lim EH, Hartman M, Wong FY, Li J. Breast cancer risk stratification using genetic and non-genetic risk assessment tools for 246,142 women in the UK Biobank. Genet Med. 2023 10; 25(10):100917.
Score: 0.008
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Kosaji N, Zehra B, Nassir N, Tambi R, Orszulak AR, Lim ET, Berdiev BK, Woodbury-Smith M, Uddin M. Lack of ethnic diversity in single-cell transcriptomics hinders cell type detection and precision medicine inclusivity. Med. 2023 04 14; 4(4):217-219.
Score: 0.008
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Khor CC, Winter S, Sutiman N, M?rdter TE, Chen S, Lim JSL, Li Z, Li J, Sim KS, Ganchev B, Eccles D, Eccles B, Tapper W, Zgheib NK, Tfayli A, Ng RCH, Yap YS, Lim E, Wong M, Wong NS, Ang PCS, Dent R, Tremmel R, Klein K, Schaeffeler E, Zhou Y, Lauschke VM, Eichelbaum M, Schwab M, Brauch HB, Chowbay B, Schroth W. Cross-Ancestry Genome-Wide Association Study Defines the Extended CYP2D6 Locus as the Principal Genetic Determinant of Endoxifen Plasma Concentrations. Clin Pharmacol Ther. 2023 03; 113(3):712-723.
Score: 0.008
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Soh J, Lim ZX, Lim EH, Kennedy BK, Goh J. Ironing out exercise on immuno-oncological outcomes. J Immunother Cancer. 2022 09; 10(9).
Score: 0.007
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Ho PJ, Ho WK, Khng AJ, Yeoh YS, Tan BK, Tan EY, Lim GH, Tan SM, Tan VKM, Yip CH, Mohd-Taib NA, Wong FY, Lim EH, Ngeow J, Chay WY, Leong LCH, Yong WS, Seah CM, Tang SW, Ng CWQ, Yan Z, Lee JA, Rahmat K, Islam T, Hassan T, Tai MC, Khor CC, Yuan JM, Koh WP, Sim X, Dunning AM, Bolla MK, Antoniou AC, Teo SH, Li J, Hartman M. Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification. BMC Med. 2022 04 26; 20(1):150.
Score: 0.007
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Qi TH, Hian OH, Kumaran AM, Tan TJ, Cong TRY, Su-Xin GL, Lim EH, Ng R, Yeo MCR, Tching FLLW, Zewen Z, Hui CYS, Xin WR, Ooi SKG, Leong LCH, Tan SM, Preetha M, Sim Y, Tan VKM, Yeong J, Yong WF, Cai Y, Nei WL. Multi-center evaluation of artificial intelligent imaging and clinical models for predicting neoadjuvant chemotherapy response in breast cancer. Breast Cancer Res Treat. 2022 May; 193(1):121-138.
Score: 0.007
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Ho PJ, Khng AJ, Loh HW, Ho WK, Yip CH, Mohd-Taib NA, Tan VKM, Tan BK, Tan SM, Tan EY, Lim SH, Jamaris S, Sim Y, Wong FY, Ngeow J, Lim EH, Tai MC, Wijaya EA, Lee SC, Chan CW, Buhari SA, Chan PMY, Chen JJC, Seah JCM, Lee WP, Mok CW, Lim GH, Woo E, Kim SW, Lee JW, Lee MH, Park SK, Dunning AM, Easton DF, Schmidt MK, Teo SH, Li J, Hartman M. Germline breast cancer susceptibility genes, tumor characteristics, and survival. Genome Med. 2021 12 02; 13(1):185.
Score: 0.007
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Seet AOL, Tan AC, Tan TJ, Ng MCH, Tai DWM, Lam JYC, Tan GS, Gogna A, Too CW, Tan BS, Takano A, Lim A, Lim TH, Lim ST, Dent RA, Ang MK, Yap YS, Tan IBH, Choo SP, Toh CK, Lim EH, Farid M, Skanderup AJ, Iyer NG, Lim WT, Tan EH, Lim TKH, Tan DSW. Individualized Molecular Profiling for Allocation to Clinical Trials Singapore Study-An Asian Tertiary Cancer Center Experience. JCO Precis Oncol. 2021; 5.
Score: 0.007
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Yeong J, Tan T, Chow ZL, Cheng Q, Lee B, Seet A, Lim JX, Lim JCT, Ong CCH, Thike AA, Saraf S, Tan BYC, Poh YC, Yee S, Liu J, Lim E, Iqbal J, Dent R, Tan PH. Multiplex immunohistochemistry/immunofluorescence (mIHC/IF) for PD-L1 testing in triple-negative breast cancer: a translational assay compared with conventional IHC. J Clin Pathol. 2020 Sep; 73(9):557-562.
Score: 0.006
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Yap YS, Leong MC, Chua YW, Loh KWJ, Lee GE, Lim EH, Dent R, Ng RCH, Lim JH, Singh G, Tan A, Guan G, Wu A, Lee YF, Bhagat AAS, Lim DW. Detection and prognostic relevance of circulating tumour cells (CTCs) in Asian breast cancers using a label-free microfluidic platform. PLoS One. 2019; 14(9):e0221305.
Score: 0.006
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Lai CPT, Yeong JPS, Tan AS, Ong CHC, Lee B, Lim JCT, Thike AA, Iqbal J, Dent RA, Lim EH, Tan PH. Evaluation of phospho-histone H3 in Asian triple-negative breast cancer using multiplex immunofluorescence. Breast Cancer Res Treat. 2019 Nov; 178(2):295-305.
Score: 0.006
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Tan AS, Yeong JPS, Lai CPT, Ong CHC, Lee B, Lim JCT, Thike AA, Iqbal J, Dent RA, Lim EH, Tan PH. The role of Ki-67 in Asian triple negative breast cancers: a novel combinatory panel approach. Virchows Arch. 2019 Dec; 475(6):709-725.
Score: 0.006
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Doan RN, Lim ET, De Rubeis S, Betancur C, Cutler DJ, Chiocchetti AG, Overman LM, Soucy A, Goetze S, Freitag CM, Daly MJ, Walsh CA, Buxbaum JD, Yu TW. Recessive gene disruptions in autism spectrum disorder. Nat Genet. 2019 07; 51(7):1092-1098.
Score: 0.006
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Yeong J, Lim JCT, Lee B, Li H, Ong CCH, Thike AA, Yeap WH, Yang Y, Lim AYH, Tay TKY, Liu J, Wong SC, Chen J, Lim EH, Iqbal J, Dent R, Newell EW, Tan PH. Prognostic value of CD8?+?PD-1+ immune infiltrates and PDCD1 gene expression in triple negative breast cancer. J Immunother Cancer. 2019 02 06; 7(1):34.
Score: 0.006
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Meyer K, Feldman HM, Lu T, Drake D, Lim ET, Ling KH, Bishop NA, Pan Y, Seo J, Lin YT, Su SC, Church GM, Tsai LH, Yankner BA. REST and Neural Gene Network Dysregulation in iPSC Models of Alzheimer's Disease. Cell Rep. 2019 01 29; 26(5):1112-1127.e9.
Score: 0.006
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Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2018 12 06; 103(6):930-947.
Score: 0.006
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Tan CJ, Lim SWT, Toh YL, Ng T, Yeo A, Shwe M, Foo KM, Chu P, Jain A, Koo SL, Dent RA, Ng RCH, Yap YS, Lim EH, Loh KW, Chay WY, Lee GE, Tan TJY, Beh SY, Wong M, Chan JJ, Khor CC, Ho HK, Chan A. Replication and Meta-analysis of the Association between BDNF Val66Met Polymorphism and Cognitive Impairment in Patients Receiving Chemotherapy. Mol Neurobiol. 2019 Jul; 56(7):4741-4750.
Score: 0.006
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Coulter ME, Dorobantu CM, Lodewijk GA, Delalande F, Cianferani S, Ganesh VS, Smith RS, Lim ET, Xu CS, Pang S, Wong ET, Lidov HGW, Calicchio ML, Yang E, Gonzalez DM, Schlaeger TM, Mochida GH, Hess H, Lee WA, Lehtinen MK, Kirchhausen T, Haussler D, Jacobs FMJ, Gaudin R, Walsh CA. The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. Cell Rep. 2018 07 24; 24(4):973-986.e8.
Score: 0.006
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Jakhar R, Luijten MNH, Wong AXF, Cheng B, Guo K, Neo SP, Au B, Kulkarni M, Lim KJ, Maimaiti J, Chong HC, Lim EH, Tan TBK, Ong KW, Sim Y, Wong JSL, Khoo JBK, Ho JTS, Chua BT, Sinha I, Wang X, Connolly JE, Gunaratne J, Crasta KC. Autophagy Governs Protumorigenic Effects of Mitotic Slippage-induced Senescence. Mol Cancer Res. 2018 11; 16(11):1625-1640.
Score: 0.006
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Yeo NC, Chavez A, Lance-Byrne A, Chan Y, Menn D, Milanova D, Kuo CC, Guo X, Sharma S, Tung A, Cecchi RJ, Tuttle M, Pradhan S, Lim ET, Davidsohn N, Ebrahimkhani MR, Collins JJ, Lewis NE, Kiani S, Church GM. An enhanced CRISPR repressor for targeted mammalian gene regulation. Nat Methods. 2018 Aug; 15(8):611-616.
Score: 0.006
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Yeong J, Lim JCT, Lee B, Li H, Chia N, Ong CCH, Lye WK, Putti TC, Dent R, Lim E, Thike AA, Tan PH, Iqbal J. High Densities of Tumor-Associated Plasma Cells Predict Improved Prognosis in Triple Negative Breast Cancer. Front Immunol. 2018; 9:1209.
Score: 0.005
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Chan Y, Chan YK, Goodman DB, Guo X, Chavez A, Lim ET, Church GM. Enabling multiplexed testing of pooled donor cells through whole-genome sequencing. Genome Med. 2018 04 19; 10(1):31.
Score: 0.005
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Chae JW, Chua PS, Ng T, Yeo AHL, Shwe M, Gan YX, Dorajoo S, Foo KM, Loh KW, Koo SL, Chay WY, Tan TJY, Beh SY, Lim EH, Lee GE, Dent R, Yap YS, Ng R, Ho HK, Chan A. Association of mitochondrial DNA content in peripheral blood with cancer-related fatigue and chemotherapy-related cognitive impairment in early-stage breast cancer patients: a prospective cohort study. Breast Cancer Res Treat. 2018 Apr; 168(3):713-721.
Score: 0.005
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Chan Y, Tung M, Garruss AS, Zaranek SW, Chan YK, Lunshof JE, Zaranek AW, Ball MP, Chou MF, Lim ET, Church GM. An unbiased index to quantify participant's phenotypic contribution to an open-access cohort. Sci Rep. 2017 04 07; 7:46148.
Score: 0.005
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Zhang WC, Chin TM, Yang H, Nga ME, Lunny DP, Lim EK, Sun LL, Pang YH, Leow YN, Malusay SR, Lim PX, Lee JZ, Tan BJ, Shyh-Chang N, Lim EH, Lim WT, Tan DS, Tan EH, Tai BC, Soo RA, Tam WL, Lim B. Tumour-initiating cell-specific miR-1246 and miR-1290 expression converge to promote non-small cell lung cancer progression. Nat Commun. 2016 06 21; 7:11702.
Score: 0.005
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Chan Y, Salem RM, Hsu YH, McMahon G, Pers TH, Vedantam S, Esko T, Guo MH, Lim ET, Franke L, Smith GD, Strachan DP, Hirschhorn JN. Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development. Am J Hum Genet. 2015 May 07; 96(5):695-708.
Score: 0.004
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Ruderfer DM, Lim ET, Genovese G, Moran JL, Hultman CM, Sullivan PF, McCarroll SA, Holmans P, Sklar P, Purcell SM. No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia. Eur J Hum Genet. 2015 Apr; 23(4):555-7.
Score: 0.004
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Krishnan VG, Ebert PJ, Ting JC, Lim E, Wong SS, Teo AS, Yue YG, Chua HH, Ma X, Loh GS, Lin Y, Tan JH, Yu K, Zhang S, Reinhard C, Tan DS, Peters BA, Lincoln SE, Ballinger DG, Laramie JM, Nilsen GB, Barber TD, Tan P, Hillmer AM, Ng PC. Whole-genome sequencing of asian lung cancers: second-hand smoke unlikely to be responsible for higher incidence of lung cancer among Asian never-smokers. Cancer Res. 2014 Nov 01; 74(21):6071-81.
Score: 0.004
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Chan Y, Lim ET, Sandholm N, Wang SR, McKnight AJ, Ripke S, Daly MJ, Neale BM, Salem RM, Hirschhorn JN. An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases. Am J Hum Genet. 2014 Mar 06; 94(3):437-52.
Score: 0.004
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He X, Sanders SJ, Liu L, De Rubeis S, Lim ET, Sutcliffe JS, Schellenberg GD, Gibbs RA, Daly MJ, Buxbaum JD, State MW, Devlin B, Roeder K. Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. PLoS Genet. 2013; 9(8):e1003671.
Score: 0.004
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Mannstadt M, Harris M, Bravenboer B, Chitturi S, Dreijerink KM, Lambright DG, Lim ET, Daly MJ, Gabriel S, J?ppner H. Germline mutations affecting Ga11 in hypoparathyroidism. N Engl J Med. 2013 Jun 27; 368(26):2532-4.
Score: 0.004
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Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O'Rourke J, Kirby A, Lage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte ET, Daly MJ, Katsanis N, Seminara SB. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med. 2013 May 23; 368(21):1992-2003.
Score: 0.004
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Liu L, Sabo A, Neale BM, Nagaswamy U, Stevens C, Lim E, Bodea CA, Muzny D, Reid JG, Banks E, Coon H, Depristo M, Dinh H, Fennel T, Flannick J, Gabriel S, Garimella K, Gross S, Hawes A, Lewis L, Makarov V, Maguire J, Newsham I, Poplin R, Ripke S, Shakir K, Samocha KE, Wu Y, Boerwinkle E, Buxbaum JD, Cook EH, Devlin B, Schellenberg GD, Sutcliffe JS, Daly MJ, Gibbs RA, Roeder K. Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet. 2013 Apr; 9(4):e1003443.
Score: 0.004
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Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukaddes NM, Hashmi A, Balkhy S, Gascon GG, Hisama FM, LeClair E, Poduri A, Oner O, Al-Saad S, Al-Awadi SA, Bastaki L, Ben-Omran T, Teebi AS, Al-Gazali L, Eapen V, Stevens CR, Rappaport L, Gabriel SB, Markianos K, State MW, Greenberg ME, Taniguchi H, Braverman NE, Morrow EM, Walsh CA. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013 Jan 23; 77(2):259-73.
Score: 0.004
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Haas JT, Winter HS, Lim E, Kirby A, Blumenstiel B, DeFelice M, Gabriel S, Jalas C, Branski D, Grueter CA, Toporovski MS, Walther TC, Daly MJ, Farese RV. DGAT1 mutation is linked to a congenital diarrheal disorder. J Clin Invest. 2012 Dec; 122(12):4680-4.
Score: 0.004
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Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL. A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. Am J Hum Genet. 2012 Jul 13; 91(1):202-8.
Score: 0.004
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Chahrour MH, Yu TW, Lim ET, Ataman B, Coulter ME, Hill RS, Stevens CR, Schubert CR, Greenberg ME, Gabriel SB, Walsh CA. Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. PLoS Genet. 2012; 8(4):e1002635.
Score: 0.004
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Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012 Apr 04; 485(7397):242-5.
Score: 0.004
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Zhang WC, Shyh-Chang N, Yang H, Rai A, Umashankar S, Ma S, Soh BS, Sun LL, Tai BC, Nga ME, Bhakoo KK, Jayapal SR, Nichane M, Yu Q, Ahmed DA, Tan C, Sing WP, Tam J, Thirugananam A, Noghabi MS, Pang YH, Ang HS, Mitchell W, Robson P, Kaldis P, Soo RA, Swarup S, Lim EH, Lim B. Glycine decarboxylase activity drives non-small cell lung cancer tumor-initiating cells and tumorigenesis. Cell. 2012 Jan 20; 148(1-2):259-72.
Score: 0.004