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  • Showing 1-6 of 6 Results
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
Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues.Kukurba, KR, Zhang R., Li X., Smith KS, Knowles DA, How Tan M., Piskol R., Lek M., Snyder M., Macarthur DG, Li JB, and Montgomery SB PLoS genetics, 2014/05/01, Volume 10, Issue 5, p.e1004304, (2014) Read More / View Supplemental Materials
Abstract
Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy.Sergouniotis, PI, Chakarova C., Murphy C., Becker M., Lenassi E., Arno G., Lek M., Macarthur DG, UCL-Exomes Consortium, Bhattacharya SS, Moore AT, Holder GE, Robson AG, Wolfrum U., Webster AR, and Plagnol V. American journal of human genetics, 2014/05/01, Volume 94, Issue 5, p.760-9, (2014) Read More / View Supplemental Materials
Abstract
2013
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.The SIGMA Type 2 Diabetes, Consortium, team Writing, Williams AL, Jacobs SB, Moreno-Macías H., Huerta-Chagoya A., Churchhouse C., Márquez-Luna C., García-Ortíz H., José Gómez-Vázquez M., Burtt NP, Aguilar-Salinas CA, González-Villalpando C., Florez JC, Orozco L., Haiman CA, Tusié-Luna T., Altshuler D., team Analysis, Williams AL, et al. Nature, 2013/12/25, (2013) Read More / View Supplemental Materials
Abstract
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., et al. Neuron, 2013/01/23, Volume 77, Issue 2, p.235-42, (2013) Read More / View Supplemental Materials
Abstract
2012
The uncertain road towards genomic medicine.Macarthur, DG, and Lek M. Trends in genetics : TIG, 2012/07/01, Volume 28, Issue 7, p.303-5, (2012) Read More / View Supplemental Materials
Abstract
  • Showing 1-6 of 6 Results