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Elaine Lim, PhD

Elaine joined the lab in 2014 after finishing her PhD in Genetics and Genomics at Harvard, where she studied the recessive causes of complex disorders and diseases. Her primary research interests are in the genetic and molecular understanding of neuro-developmental disorders such as autism, with the hope of developing systems for understanding and treating subtypes of such complex disorders.
 
Publications:

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, Karajamaki A, Madsen E, Go-T2D Consortium, Altshuler DM, Raychaudhuri S, Groop L, Flannick J, Hirschhorn JN, Katsanis N, Daly MJ*. AJHG 2014. * Co-corresponding authors
 
Distribution and medical impact of loss-of-function variants in the Finnish founder population.
Lim ET, Wurtz P, Havulinna AS, Palta P, Tukiainen T, Rehnstrom K, Esko T, Magi R, Inouye M, Lappalainen T, Chan Y, Salem RM, Lek M, Flannick J, Sim X, Manning A, Ladenvall C, Bumpstead S, Hamalainen 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, Lehtimaki 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. PLoS Genetics 2014, PMID 25078778.
 
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. Neuron 2013, PMID 23352160.
 
 
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