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Page 1
Distribution and medical impact of loss-of-function variants in the Finnish founder population.
Lim ET, Würtz P, Havulinna AS, Palta P, Tukiainen T, Rehnström K, Esko T, Mägi R, Inouye M, Lappalainen T, Chan Y, Salem RM, Lek M, Flannick J, Sim X, Manning A, Ladenvall C, Bumpstead S, Hämäläinen 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, Lehtimäki 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; Sequencing Initiative Suomi (SISu) Project. Lim ET, et al. PLoS Genet. 2014 Jul 31;10(7):e1004494. doi: 10.1371/journal.pgen.1004494. eCollection 2014 Jul. PLoS Genet. 2014. PMID: 25078778 Free PMC article.
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
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. Staropoli JF, et al. Among authors: lim et. Am J Hum Genet. 2012 Jul 13;91(1):202-8. doi: 10.1016/j.ajhg.2012.05.023. Epub 2012 Jun 28. Am J Hum Genet. 2012. PMID: 22748208 Free PMC article.
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
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; NHLBI Exome Sequencing Project; State MW, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Daly MJ. Lim ET, et al. Neuron. 2013 Jan 23;77(2):235-42. doi: 10.1016/j.neuron.2012.12.029. Neuron. 2013. PMID: 23352160 Free PMC article.
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
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. Margolin DH, et al. Among authors: lim et. N Engl J Med. 2013 May 23;368(21):1992-2003. doi: 10.1056/NEJMoa1215993. Epub 2013 May 8. N Engl J Med. 2013. PMID: 23656588 Free PMC article.
Germline mutations affecting Gα11 in hypoparathyroidism.
Mannstadt M, Harris M, Bravenboer B, Chitturi S, Dreijerink KM, Lambright DG, Lim ET, Daly MJ, Gabriel S, Jüppner H. Mannstadt M, et al. Among authors: lim et. N Engl J Med. 2013 Jun 27;368(26):2532-4. doi: 10.1056/NEJMc1300278. N Engl J Med. 2013. PMID: 23802536 Free PMC article. No abstract available.
An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases.
Chan Y, Lim ET, Sandholm N, Wang SR, McKnight AJ, Ripke S; DIAGRAM Consortium; GENIE Consortium; GIANT Consortium; IIBDGC Consortium; PGC Consortium; Daly MJ, Neale BM, Salem RM, Hirschhorn JN. Chan Y, et al. Among authors: lim et. Am J Hum Genet. 2014 Mar 6;94(3):437-52. doi: 10.1016/j.ajhg.2014.02.006. Am J Hum Genet. 2014. PMID: 24607388 Free PMC article.
A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.
Lim ET, Liu YP, Chan Y, Tiinamaija T, Käräjämäki A, Madsen E; Go-T2D Consortium; Altshuler DM, Raychaudhuri S, Groop L, Flannick J, Hirschhorn JN, Katsanis N, Daly MJ. Lim ET, et al. Am J Hum Genet. 2014 Nov 6;95(5):509-20. doi: 10.1016/j.ajhg.2014.09.015. Epub 2014 Oct 16. Am J Hum Genet. 2014. PMID: 25439097 Free PMC article.
Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.
Chan Y, Salem RM, Hsu YH, McMahon G, Pers TH, Vedantam S, Esko T, Guo MH, Lim ET; GIANT Consortium; Franke L, Smith GD, Strachan DP, Hirschhorn JN. Chan Y, et al. Among authors: lim et. Am J Hum Genet. 2015 May 7;96(5):695-708. doi: 10.1016/j.ajhg.2015.02.018. Epub 2015 Apr 9. Am J Hum Genet. 2015. PMID: 25865494 Free PMC article.
99 results