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2015
Exome Sequencing in Suspected Monogenic Dyslipidemias.Stitziel, NO, Peloso GM, Abifadel M., Cefalù AB, Fouchier S., Motazacker MM, Tada H., Larach DB, Awan Z., Haller JF, Pullinger CR, Varret M., Rabès JP, Noto D., Tarugi P., Kawashiri MA, Nohara A., Yamagishi M., Risman M., Deo R., et al. Circulation. Cardiovascular genetics, 2015/01/27, (2015) Read More / View Supplemental Materials
Abstract
mTOR pathway mutations cause hemimegalencephaly and focal cortical dysplasia.D'Gama, AM, Geng Y., Couto JA, Martin B., Boyle EA, LaCoursiere CM, Hossain A., Hatem NE, Barry B., Kwiatkowski DJ, Vinters HV, Barkovich AJ, Shendure J., Mathern GW, Walsh CA, and Poduri A. Annals of neurology, 2015/01/19, (2015) Read More / View Supplemental Materials
Abstract
2014
Somatic Mutations in Cerebral Cortical Malformations.Jamuar, SS, Lam AT, Kircher M., D'Gama AM, Wang J., Barry BJ, Zhang X., Hill RS, Partlow JN, Rozzo A., Servattalab S., Mehta BK, Topcu M., Amrom D., Andermann E., Dan B., Parrini E., Guerrini R., Scheffer IE, Berkovic SF, et al. The New England journal of medicine, 2014/08/21, Volume 371, Issue 8, p.733-743, (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
The complete genome sequence of a Neanderthal from the Altai Mountains.Prüfer, K., Racimo F., Patterson N., Jay F., Sankararaman S., Sawyer S., Heinze A., Renaud G., Sudmant PH, de Filippo C., Li H., Mallick S., Dannemann M., Fu Q., Kircher M., Kuhlwilm M., Lachmann M., Meyer M., Ongyerth M., Siebauer M., et al. Nature, 2014/01/02, Volume 505, Issue 7481, p.43-9, (2014) Read More / View Supplemental Materials
Abstract
  • Showing 1-5 of 5 Results