Eli and Edythe L. Broad Institute of MIT and Harvard

Research facility

Cambridge, MA, United States (USA)

Publications in cooperation with FAU scientists

Zweier, M., Begemann, A., Mcwalter, K., Cho, M.T., Abela, L., Banka, S.,... Rauch, A. (2019). Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. European journal of human genetics, 27(5), 747-759. https://dx.doi.org/10.1038/s41431-018-0331-z
Niestroj, L.-M., Du, J., Nothnagel, M., May, P., Palotie, A., Daly, M.J.,... Lal, D. (2018). Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies. Epilepsia, 59(11), 2145-2152. https://dx.doi.org/10.1111/epi.14579
Zhou, F., Liu, Y., Rohde, C., Pauli, C., Gerloff, D., Koehn, M.,... Mueller-Tidow, C. (2017). AML1-ETO requires enhanced C/D box snoRNA/RNP formation to induce self-renewal and leukaemia. Nature Cell Biology, 19(7), 844-855. https://dx.doi.org/10.1038/ncb3563
Schnabel, R.B., Maas, R., Wang, N., Yin, X., Larson, M.G., Levy, D.,... Benjamin, E.J. (2016). Asymmetric dimethylarginine, related arginine derivatives, and incident atrial fibrillation. American Heart Journal, 176, 100-6. https://dx.doi.org/10.1016/j.ahj.2016.03.007
Schaffer, A.E., Eggens, V.R.C., Caglayan, A.O., Reuter, M., Scott, E., Coufal, N.G.,... Gleeson, J.G. (2014). CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell, 157(3), 651-63. https://dx.doi.org/10.1016/j.cell.2014.03.049

Last updated on 2017-08-02 at 07:41