Recent Publications On Pubmed

  1. Bussies, PL, Rajabli, F, Griswold, A, Dorfsman, DA, Whitehead, P, Adams, LD et al.. Use of local genetic ancestry to assess TOMM40-523' and risk for Alzheimer disease. Neurol Genet. 2020;6 (2):e404. doi: 10.1212/NXG.0000000000000404. PubMed PMID:32337333 PubMed Central PMC7164968.
  2. Reiman, EM, Arboleda-Velasquez, JF, Quiroz, YT, Huentelman, MJ, Beach, TG, Caselli, RJ et al.. Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study. Nat Commun. 2020;11 (1):667. doi: 10.1038/s41467-019-14279-8. PubMed PMID:32015339 PubMed Central PMC6997393.
  3. Craig, JE, Han, X, Qassim, A, Hassall, M, Cooke Bailey, JN, Kinzy, TG et al.. Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression. Nat. Genet. 2020;52 (2):160-166. doi: 10.1038/s41588-019-0556-y. PubMed PMID:31959993 .
  4. Wheeler, NR, Benchek, P, Kunkle, BW, Hamilton-Nelson, KL, Warfe, M, Fondran, JR et al.. Hadoop and PySpark for reproducibility and scalability of genomic sequencing studies. Pac Symp Biocomput. 2020;25 :523-534. . PubMed PMID:31797624 PubMed Central PMC6956992.
  5. Genetics of Glaucoma in People of African Descent (GGLAD) Consortium, Hauser, MA, Allingham, RR, Aung, T, Van Der Heide, CJ, Taylor, KD et al.. Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry. JAMA. 2019;322 (17):1682-1691. doi: 10.1001/jama.2019.16161. PubMed PMID:31688885 PubMed Central PMC6865235.
  6. Bis, JC, Jian, X, Kunkle, BW, Chen, Y, Hamilton-Nelson, KL, Bush, WS et al.. Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Mol. Psychiatry. 2019; :. doi: 10.1038/s41380-019-0529-7. PubMed PMID:31636380 .
  7. Waksmunski, AR, Grunin, M, Kinzy, TG, Igo, RP Jr, Haines, JL, Cooke Bailey, JN et al.. Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2019;60 (12):4041-4051. doi: 10.1167/iovs.19-27827. PubMed PMID:31560769 PubMed Central PMC6779289.
  8. Dumitrescu, L, Barnes, LL, Thambisetty, M, Beecham, G, Kunkle, B, Bush, WS et al.. Sex differences in the genetic predictors of Alzheimer's pathology. Brain. 2019;142 (9):2581-2589. doi: 10.1093/brain/awz206. PubMed PMID:31497858 PubMed Central PMC6736148.
  9. Fan, BJ, Bailey, JC, Igo, RP Jr, Kang, JH, Boumenna, T, Brilliant, MH et al.. Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis. JAMA Ophthalmol. 2019; :. doi: 10.1001/jamaophthalmol.2019.3109. PubMed PMID:31436842 PubMed Central PMC6707005.
  10. Choi, KY, Lee, JJ, Gunasekaran, TI, Kang, S, Lee, W, Jeong, J et al.. APOE Promoter Polymorphism-219T/G is an Effect Modifier of the Influence of APOE ε4 on Alzheimer's Disease Risk in a Multiracial Sample. J Clin Med. 2019;8 (8):. doi: 10.3390/jcm8081236. PubMed PMID:31426376 PubMed Central PMC6723529.
  11. Kunkle, BW, Grenier-Boley, B, Sims, R, Bis, JC, Damotte, V, Naj, AC et al.. Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nat. Genet. 2019;51 (9):1423-1424. doi: 10.1038/s41588-019-0495-7. PubMed PMID:31417202 .
  12. Waksmunski, AR, Igo, RP Jr, Song, YE, Cooke Bailey, JN, Laux, R, Fuzzell, D et al.. Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish. Hum. Genet. 2019;138 (10):1171-1182. doi: 10.1007/s00439-019-02050-4. PubMed PMID:31367973 PubMed Central PMC6745026.
  13. Ma, Y, Jun, GR, Zhang, X, Chung, J, Naj, AC, Chen, Y et al.. Analysis of Whole-Exome Sequencing Data for Alzheimer Disease Stratified by APOE Genotype. JAMA Neurol. 2019; :. doi: 10.1001/jamaneurol.2019.1456. PubMed PMID:31180460 PubMed Central PMC6563544.
  14. Gardner, OK, Wang, L, Van Booven, D, Whitehead, PL, Hamilton-Nelson, KL, Adams, LD et al.. RNA editing alterations in a multi-ethnic Alzheimer disease cohort converge on immune and endocytic molecular pathways. Hum. Mol. Genet. 2019;28 (18):3053-3061. doi: 10.1093/hmg/ddz110. PubMed PMID:31162550 PubMed Central PMC6737295.
  15. Ma, Y, Jun, GR, Chung, J, Zhang, X, Kunkle, BW, Naj, AC et al.. CpG-related SNPs in the MS4A region have a dose-dependent effect on risk of late-onset Alzheimer disease. Aging Cell. 2019;18 (4):e12964. doi: 10.1111/acel.12964. PubMed PMID:31144443 PubMed Central PMC6612647.
  16. Laville, V, Kang, JH, Cousins, CC, Iglesias, AI, Nagy, R, Cooke Bailey, JN et al.. Genetic Correlations Between Diabetes and Glaucoma: An Analysis of Continuous and Dichotomous Phenotypes. Am. J. Ophthalmol. 2019;206 :245-255. doi: 10.1016/j.ajo.2019.05.015. PubMed PMID:31121135 PubMed Central PMC6864262.
  17. Patel, D, Mez, J, Vardarajan, BN, Staley, L, Chung, J, Zhang, X et al.. Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry. JAMA Netw Open. 2019;2 (3):e191350. doi: 10.1001/jamanetworkopen.2019.1350. PubMed PMID:30924900 PubMed Central PMC6450321.
  18. Kunkle, BW, Grenier-Boley, B, Sims, R, Bis, JC, Damotte, V, Naj, AC et al.. Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nat. Genet. 2019;51 (3):414-430. doi: 10.1038/s41588-019-0358-2. PubMed PMID:30820047 PubMed Central PMC6463297.
  19. Iglesias, AI, Mishra, A, Vitart, V, Bykhovskaya, Y, Höhn, R, Springelkamp, H et al.. Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. Nat Commun. 2019;10 (1):155. doi: 10.1038/s41467-018-07819-1. PubMed PMID:30622277 PubMed Central PMC6325104.
  20. Beecham, GW, Vardarajan, B, Blue, E, Bush, W, Jaworski, J, Barral, S et al.. Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease. Neurol Genet. 2018;4 (6):e286. doi: 10.1212/NXG.0000000000000286. PubMed PMID:30569016 PubMed Central PMC6278241.
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