Winawer, Melodie R; Griffin, Nicole G; Samanamud, Jorge et al. (2018) Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Ann Neurol 83:1133-1146 |
Epi4K Consortium; EuroEPINOMICS-RES Consortium; Epilepsy Phenome Genome Project (2017) Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data. Eur J Hum Genet 25:894-899 |
Sims, Rebecca (see original citation for additional authors) (2017) Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nat Genet 49:1373-1384 |
Gelfman, Sahar; Wang, Quanli; McSweeney, K Melodi et al. (2017) Annotating pathogenic non-coding variants in genic regions. Nat Commun 8:236 |
Mori, Mari; Haskell, Gloria; Kazi, Zoheb et al. (2017) Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. Mol Genet Metab 122:189-197 |
Jun, Gyungah R; Chung, Jaeyoon; Mez, Jesse et al. (2017) Transethnic genome-wide scan identifies novel Alzheimer's disease loci. Alzheimers Dement 13:727-738 |
Hohman, Timothy J; Cooke-Bailey, Jessica N; Reitz, Christiane et al. (2016) Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk. Alzheimers Dement 12:233-43 |
Petrovski, Slavé; Parrott, Roberta E; Roberts, Joseph L et al. (2016) Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature. J Clin Immunol 36:462-71 |
Karch, Celeste M; Ezerskiy, Lubov A; Bertelsen, Sarah et al. (2016) Alzheimer's Disease Risk Polymorphisms Regulate Gene Expression in the ZCWPW1 and the CELF1 Loci. PLoS One 11:e0148717 |
Mez, Jesse; Mukherjee, Shubhabrata; Thornton, Timothy et al. (2016) The executive prominent/memory prominent spectrum in Alzheimer's disease is highly heritable. Neurobiol Aging 41:115-121 |
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