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2014
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., et al. PLoS genetics, 2014/07/01, Volume 10, Issue 7, p.e1004494, (2014) Read More / View Supplemental Materials
Abstract
Guidelines for investigating causality of sequence variants in human disease.Macarthur, DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J., Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly M. J., Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, et al. Nature, 2014/04/24, Volume 508, Issue 7497, p.469-76, (2014) Read More / View Supplemental Materials
Abstract
2013
Response to 'Predicting the diagnosis of autism spectrum disorder using gene pathway analysis'Robinson, EB, Howrigan D., Yang J., Ripke S., Anttila V., Duncan LE, Jostins L., Barrett JC, Medland SE, Macarthur DG, Breen G., O'Donovan MC, Wray NR, Devlin B., Daly M. J., Visscher PM, Sullivan PF, and Neale BM Molecular psychiatry, 2013/10/22, (2013) Read More / View Supplemental Materials
  • Showing 1-3 of 3 Results