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Page 1
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
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 Jr, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ. Neale BM, et al. Among authors: lim e. Nature. 2012 Apr 4;485(7397):242-5. doi: 10.1038/nature11011. Nature. 2012. PMID: 22495311 Free PMC article.
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.
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 Jr, Devlin B, Schellenberg GD, Sutcliffe JS, Daly MJ, Gibbs RA, Roeder K. Liu L, et al. Among authors: lim e. PLoS Genet. 2013 Apr;9(4):e1003443. doi: 10.1371/journal.pgen.1003443. Epub 2013 Apr 11. PLoS Genet. 2013. PMID: 23593035 Free PMC article.
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
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; Autism Sequencing Consortium; Church GM, Scherer SW, Buxbaum JD, Walsh CA. Lim ET, et al. Nat Neurosci. 2017 Sep;20(9):1217-1224. doi: 10.1038/nn.4598. Epub 2017 Jul 17. Nat Neurosci. 2017. PMID: 28714951 Free PMC article.
Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES. Cargill M, et al. Among authors: lim ep. Nat Genet. 1999 Jul;22(3):231-8. doi: 10.1038/10290. Nat Genet. 1999. PMID: 10391209
DGAT1 mutation is linked to a congenital diarrheal disorder.
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 Jr. Haas JT, et al. Among authors: lim e. J Clin Invest. 2012 Dec;122(12):4680-4. doi: 10.1172/JCI64873. Epub 2012 Nov 1. J Clin Invest. 2012. PMID: 23114594 Free PMC article.
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development.
Chung C, Yang X, Bae T, Vong KI, Mittal S, Donkels C, Westley Phillips H, Li Z, Marsh APL, Breuss MW, Ball LL, Garcia CAB, George RD, Gu J, Xu M, Barrows C, James KN, Stanley V, Nidhiry AS, Khoury S, Howe G, Riley E, Xu X, Copeland B, Wang Y, Kim SH, Kang HC, Schulze-Bonhage A, Haas CA, Urbach H, Prinz M, Limbrick DD Jr, Gurnett CA, Smyth MD, Sattar S, Nespeca M, Gonda DD, Imai K, Takahashi Y, Chen HH, Tsai JW, Conti V, Guerrini R, Devinsky O, Silva WA Jr, Machado HR, Mathern GW, Abyzov A, Baldassari S, Baulac S; Focal Cortical Dysplasia Neurogenetics Consortium; Brain Somatic Mosaicism Network; Gleeson JG. Chung C, et al. Nat Genet. 2023 Feb;55(2):209-220. doi: 10.1038/s41588-022-01276-9. Epub 2023 Jan 12. Nat Genet. 2023. PMID: 36635388 Free PMC article.
Representation of genomic intratumor heterogeneity in multi-region non-small cell lung cancer patient-derived xenograft models.
Hynds RE, Huebner A, Pearce DR, Hill MS, Akarca AU, Moore DA, Ward S, Gowers KHC, Karasaki T, Al Bakir M, Wilson GA, Pich O, Martínez-Ruiz C, Hossain ASMM, Pearce SP, Sivakumar M, Ben Aissa A, Grönroos E, Chandrasekharan D, Kolluri KK, Towns R, Wang K, Cook DE, Bosshard-Carter L, Naceur-Lombardelli C, Rowan AJ, Veeriah S, Litchfield K, Crosbie PAJ, Dive C, Quezada SA, Janes SM, Jamal-Hanjani M, Marafioti T; TRACERx consortium; McGranahan N, Swanton C. Hynds RE, et al. Nat Commun. 2024 May 31;15(1):4653. doi: 10.1038/s41467-024-47547-3. Nat Commun. 2024. PMID: 38821942 Free PMC article.
CalScope: methodology and lessons learned for conducting a remote statewide SARS-CoV-2 seroprevalence study in California using an at-home dried blood spot collection kit and online survey.
Lim E, Mehrotra ML, Lamba K, Kamali A, Lai KW, Meza E, Bertsch-Merbach S, Szeto I, Ley C, Martin AB, Parsonnet J, Robinson P, Gebhart D, Fonseca N, Tsai CT, Seftel D, Nicolici A, Melton D, Jain S. Lim E, et al. BMC Med Res Methodol. 2024 May 27;24(1):120. doi: 10.1186/s12874-024-02245-y. BMC Med Res Methodol. 2024. PMID: 38802749 Free PMC article.
Pan-Asian adapted ESMO Clinical Practice Guidelines for the diagnosis, treatment and follow-up of patients with early breast cancer.
Park KH, Loibl S, Sohn J, Park YH, Jiang Z, Tadjoedin H, Nag S, Saji S, Md Yusof M, Villegas EMB, Lim EH, Lu YS, Ithimakin S, Tseng LM, Dejthevaporn T, Chen TW, Lee SC, Galvez C, Malwinder S, Kogawa T, Bajpai J, Brahma B, Wang S, Curigliano G, Yoshino T, Kim SB, Pentheroudakis G, Im SA, Andre F, Ahn JB, Harbeck N. Park KH, et al. Among authors: lim eh. ESMO Open. 2024 May;9(5):102974. doi: 10.1016/j.esmoop.2024.102974. Epub 2024 Apr 12. ESMO Open. 2024. PMID: 38796284 Free article.
2,746 results