Publications

  1. Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer's disease.
    Xicota, L, Cosentino, S, Vardarajan, B, Mayeux, R, Perls, TT, Andersen, SL, Zmuda, JM, Thyagarajan, B, Yashin, A, Wojczynski, MK et al..
    Alzheimers Dement. 2024; :. doi: 10.1002/alz.13718.
    PubMed PMID:38380866 .
  2. Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy.
    Wang, H, Chang, TS, Dombroski, BA, Cheng, PL, Patil, V, Valiente-Banuet, L, Farrell, K, Mclean, C, Molina-Porcel, L, Rajput, A et al..
    medRxiv. 2024; :. doi: 10.1101/2023.12.28.23300612.
    PubMed PMID:38234807 PubMed Central PMC10793533.
  3. Polygenic burden of short tandem repeat expansions promote risk for Alzheimer's disease.
    Guo, MH, Lee, WP, Vardarajan, B, Schellenberg, GD, Phillips-Cremins, J.
    medRxiv. 2023; :. doi: 10.1101/2023.11.16.23298623.
    PubMed PMID:38014121 PubMed Central PMC10680900.
  4. Longitudinal change in memory performance as a strong endophenotype for Alzheimer's disease.
    Archer, DB, Eissman, JM, Mukherjee, S, Lee, ML, Choi, SE, Scollard, P, Trittschuh, EH, Mez, JB, Bush, WS, Kunkle, BW et al..
    Alzheimers Dement. 2024;20 (2):1268-1283. doi: 10.1002/alz.13508.
    PubMed PMID:37985223 .
  5. Sex-specific genetic architecture of late-life memory performance.
    Eissman, JM, Archer, DB, Mukherjee, S, Lee, ML, Choi, SE, Scollard, P, Trittschuh, EH, Mez, JB, Bush, WS, Kunkle, BW et al..
    Alzheimers Dement. 2024;20 (2):1250-1267. doi: 10.1002/alz.13507.
    PubMed PMID:37984853 .
  6. Structural Variation Detection and Association Analysis of Whole-Genome-Sequence Data from 16,905 Alzheimer's Diseases Sequencing Project Subjects.
    Lee, WP, Wang, H, Dombroski, B, Cheng, PL, Tucci, A, Si, YQ, Farrell, J, Tzeng, JY, Leung, YY, Malamon, J et al..
    Res Sq. 2023; :. doi: 10.21203/rs.3.rs-3353179/v1.
    PubMed PMID:37886469 PubMed Central PMC10602095.
  7. NIAGADS Alzheimer's GenomicsDB: A resource for exploring Alzheimer's disease genetic and genomic knowledge.
    Greenfest-Allen, E, Valladares, O, Kuksa, PP, Gangadharan, P, Lee, WP, Cifello, J, Katanic, Z, Kuzma, AB, Wheeler, N, Bush, WS et al..
    Alzheimers Dement. 2024;20 (2):1123-1136. doi: 10.1002/alz.13509.
    PubMed PMID:37881831 .
  8. Early-onset Alzheimer's disease explained by polygenic risk of late-onset disease?
    Mantyh, WG, Cochran, JN, Taylor, JW, Broce, IJ, Geier, EG, Bonham, LW, Anderson, AG, Sirkis, DW, Joie, R, Iaccarino, L et al..
    Alzheimers Dement (Amst). 2023;15 (4):e12482. doi: 10.1002/dad2.12482.
    PubMed PMID:37780862 PubMed Central PMC10535074.
  9. Structural Variation Detection and Association Analysis of Whole-Genome-Sequence Data from 16,905 Alzheimer's Diseases Sequencing Project Subjects.
    Wang, H, Dombroski, BA, Cheng, PL, Tucci, A, Si, YQ, Farrell, JJ, Tzeng, JY, Leung, YY, Malamon, JS, Alzheimer’s Disease Sequencing Project et al..
    medRxiv. 2023; :. doi: 10.1101/2023.09.13.23295505.
    PubMed PMID:37745545 PubMed Central PMC10516060.
  10. Association of Common and Rare Variants with Alzheimer's Disease in over 13,000 Diverse Individuals with Whole-Genome Sequencing from the Alzheimer's Disease Sequencing Project.
    Lee, WP, Choi, SH, Shea, MG, Cheng, PL, Dombroski, BA, Pitsillides, AN, Heard-Costa, NL, Wang, H, Bulekova, K, Kuzma, AB et al..
    medRxiv. 2023; :. doi: 10.1101/2023.09.01.23294953.
    PubMed PMID:37693521 PubMed Central PMC10491367.
  11. Genetics of Alzheimer's Disease in the African American Population.
    Logue, MW, Dasgupta, S, Farrer, LA.
    J Clin Med. 2023;12 (16):. doi: 10.3390/jcm12165189.
    PubMed PMID:37629231 PubMed Central PMC10455208.
  12. DNA from multiple viral species is associated with Alzheimer's disease risk.
    Tejeda, M, Farrell, J, Zhu, C, Wetzler, L, Lunetta, KL, Bush, WS, Martin, ER, Wang, LS, Schellenberg, GD, Pericak-Vance, MA et al..
    Alzheimers Dement. 2024;20 (1):253-265. doi: 10.1002/alz.13414.
    PubMed PMID:37578203 PubMed Central PMC10840621.
  13. APOE loss-of-function variants: Compatible with longevity and associated with resistance to Alzheimer's Disease pathology.
    Chemparathy, A, Guen, YL, Chen, S, Lee, EG, Leong, L, Gorzynski, J, Xu, G, Belloy, M, Kasireddy, N, Tauber, AP et al..
    medRxiv. 2023; :. doi: 10.1101/2023.07.20.23292771.
    PubMed PMID:37547016 PubMed Central PMC10402217.
  14. LATE-NC risk alleles (in TMEM106B, GRN, and ABCC9 genes) among persons with African ancestry.
    Katsumata, Y, Fardo, DW, Shade, LMP, Alzheimer’s Disease Genetics Consortium, Nelson, PT.
    J Neuropathol Exp Neurol. 2023;82 (9):760-768. doi: 10.1093/jnen/nlad059.
    PubMed PMID:37528055 PubMed Central PMC10440720.
  15. A genome-wide search for pleiotropy in more than 100,000 harmonized longitudinal cognitive domain scores.
    Kang, M, Ang, TFA, Devine, SA, Sherva, R, Mukherjee, S, Trittschuh, EH, Gibbons, LE, Scollard, P, Lee, M, Choi, SE et al..
    Mol Neurodegener. 2023;18 (1):40. doi: 10.1186/s13024-023-00633-4.
    PubMed PMID:37349795 PubMed Central PMC10286470.
  16. Admixture mapping implicates 13q33.3 as ancestry-of-origin locus for Alzheimer disease in Hispanic and Latino populations.
    Horimoto, ARVR, Boyken, LA, Blue, EE, Grinde, KE, Nafikov, RA, Sohi, HK, Nato, AQ Jr, Bis, JC, Brusco, LI, Morelli, L et al..
    HGG Adv. 2023;4 (3):100207. doi: 10.1016/j.xhgg.2023.100207.
    PubMed PMID:37333771 PubMed Central PMC10276158.
  17. Clonal hematopoiesis is associated with protection from Alzheimer's disease.
    Bouzid, H, Belk, JA, Jan, M, Qi, Y, Sarnowski, C, Wirth, S, Ma, L, Chrostek, MR, Ahmad, H, Nachun, D et al..
    Nat Med. 2023;29 (7):1662-1670. doi: 10.1038/s41591-023-02397-2.
    PubMed PMID:37322115 PubMed Central PMC10353941.
  18. Novel loci for Alzheimer's disease identified by a genome-wide association study in Ashkenazi Jews.
    Li, D, Farrell, JJ, Mez, J, Martin, ER, Bush, WS, Ruiz, A, Boada, M, de Rojas, I, Mayeux, R, Haines, JL et al..
    Alzheimers Dement. 2023;19 (12):5550-5562. doi: 10.1002/alz.13117.
    PubMed PMID:37260021 PubMed Central PMC10689571.
  19. hipFG: High-throughput harmonization and integration pipeline for functional genomics data.
    Cifello, J, Kuksa, PP, Saravanan, N, Valladares, O, Leung, YY, Wang, LS.
    bioRxiv. 2023; :. doi: 10.1101/2023.04.21.537695.
    PubMed PMID:37162864 PubMed Central PMC10168270.
  20. Investigation of the independent role of a rare APOE variant (L28P; APOE*4Pittsburgh) in late-onset Alzheimer disease.
    Fan, K, Francis, L, Aslam, MM, Bedison, MA, Lawrence, E, Acharya, V, Snitz, BE, Ganguli, M, DeKosky, ST, Lopez, OL et al..
    Neurobiol Aging. 2023;122 :107-111. doi: 10.1016/j.neurobiolaging.2022.11.007.
    PubMed PMID:36528961 PubMed Central PMC9839598.
  21. Multiple gene variants linked to Alzheimer's-type clinical dementia via GWAS are also associated with non-Alzheimer's neuropathologic entities.
    Katsumata, Y, Shade, LM, Hohman, TJ, Schneider, JA, Bennett, DA, Farfel, JM, Alzheimer’s Disease Genetics Consortium, Kukull, WA, Fardo, DW, Nelson, PT et al..
    Neurobiol Dis. 2022;174 :105880. doi: 10.1016/j.nbd.2022.105880.
    PubMed PMID:36191742 PubMed Central PMC9641973.
  22. Omnibus and robust deconvolution scheme for bulk RNA sequencing data integrating multiple single-cell reference sets and prior biological knowledge.
    Chen, C, Leung, YY, Ionita, M, Wang, LS, Li, M.
    Bioinformatics. 2022;38 (19):4530-4536. doi: 10.1093/bioinformatics/btac563.
    PubMed PMID:35980155 PubMed Central PMC9525013.
  23. The causes and consequences of Alzheimer's disease: phenome-wide evidence from Mendelian randomization.
    Korologou-Linden, R, Bhatta, L, Brumpton, BM, Howe, LD, Millard, LAC, Kolaric, K, Ben-Shlomo, Y, Williams, DM, Smith, GD, Anderson, EL et al..
    Nat Commun. 2022;13 (1):4726. doi: 10.1038/s41467-022-32183-6.
    PubMed PMID:35953482 PubMed Central PMC9372151.
  24. Scalable approaches for functional analyses of whole-genome sequencing non-coding variants.
    Kuksa, PP, Greenfest-Allen, E, Cifello, J, Ionita, M, Wang, H, Nicaretta, H, Cheng, PL, Lee, WP, Wang, LS, Leung, YY et al..
    Hum Mol Genet. 2022;31 (R1):R62-R72. doi: 10.1093/hmg/ddac191.
    PubMed PMID:35943817 PubMed Central PMC9585666.
  25. Polygenic Risk Scores in Alzheimer's Disease Genetics: Methodology, Applications, Inclusion, and Diversity.
    Clark, K, Leung, YY, Lee, WP, Voight, B, Wang, LS.
    J Alzheimers Dis. 2022;89 (1):1-12. doi: 10.3233/JAD-220025.
    PubMed PMID:35848019 PubMed Central PMC9484091.
  26. ODACH: a one-shot distributed algorithm for Cox model with heterogeneous multi-center data.
    Luo, C, Duan, R, Naj, AC, Kranzler, HR, Bian, J, Chen, Y.
    Sci Rep. 2022;12 (1):6627. doi: 10.1038/s41598-022-09069-0.
    PubMed PMID:35459767 PubMed Central PMC9033863.
  27. Progranulin mutations in clinical and neuropathological Alzheimer's disease.
    Vardarajan, BN, Reyes-Dumeyer, D, Piriz, AL, Lantigua, RA, Medrano, M, Rivera, D, Jiménez-Velázquez, IZ, Martin, E, Pericak-Vance, MA, Bush, W et al..
    Alzheimers Dement. 2022;18 (12):2458-2467. doi: 10.1002/alz.12567.
    PubMed PMID:35258170 PubMed Central PMC9360185.
  28. An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease-related patterns.
    Jin, B, Capra, JA, Benchek, P, Wheeler, N, Naj, AC, Hamilton-Nelson, KL, Farrell, JJ, Leung, YY, Kunkle, B, Vadarajan, B et al..
    Genome Res. 2022;32 (4):778-790. doi: 10.1101/gr.276069.121.
    PubMed PMID:35210353 PubMed Central PMC8997344.
  29. Replication study of AD-associated rare variants.
    Neupane, A, Lenny, B, Budde, JP, Wang, F, Norton, J, Morris, JC, NIA-LOAD family study group, NCRAD, the ADSP project, Cruchaga, C, Fernández, MV.
    Alzheimers Dement. 2022;18 (4):858-862. doi: 10.1002/alz.12583.
    PubMed PMID:35103389 PubMed Central PMC8986593.
  30. Alzheimer's Disease Variant Portal: A Catalog of Genetic Findings for Alzheimer's Disease.
    Kuksa, PP, Liu, CL, Fu, W, Qu, L, Zhao, Y, Katanic, Z, Clark, K, Kuzma, AB, Ho, PC, Tzeng, KT et al..
    J Alzheimers Dis. 2022;86 (1):461-477. doi: 10.3233/JAD-215055.
    PubMed PMID:35068457 PubMed Central PMC9028687.
  31. FILER: a framework for harmonizing and querying large-scale functional genomics knowledge.
    Kuksa, PP, Leung, YY, Gangadharan, P, Katanic, Z, Kleidermacher, L, Amlie-Wolf, A, Lee, CY, Qu, L, Greenfest-Allen, E, Valladares, O et al..
    NAR Genom Bioinform. 2022;4 (1):lqab123. doi: 10.1093/nargab/lqab123.
    PubMed PMID:35047815 PubMed Central PMC8759563.
  32. Large-scale sequencing studies expand the known genetic architecture of Alzheimer's disease.
    Xue, D, Bush, WS, Renton, AE, Marcora, EA, Bis, JC, Kunkle, BW, Alzheimer's Disease Sequencing Project, Boerwinkle, E, DeStefano, AL, Farrer, L et al..
    Alzheimers Dement (Amst). 2021;13 (1):e12255. doi: 10.1002/dad2.12255.
    PubMed PMID:35005195 PubMed Central PMC8720139.
  33. Rare variants in the endocytic pathway are associated with Alzheimer's disease, its related phenotypes, and functional consequences.
    Zhan, L, Li, J, Jew, B, Sul, JH.
    PLoS Genet. 2021;17 (9):e1009772. doi: 10.1371/journal.pgen.1009772.
    PubMed PMID:34516545 PubMed Central PMC8460036.
  34. Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer's disease.
    Zhang, X, Farrell, JJ, Tong, T, Hu, J, Zhu, C, Alzheimer's Disease Sequencing Project, Wang, LS, Mayeux, R, Haines, JL, Pericak-Vance, MA et al..
    Alzheimers Dement. 2022;18 (2):294-306. doi: 10.1002/alz.12396.
    PubMed PMID:34152079 PubMed Central PMC8764625.
  35. Identification of putative causal loci in whole-genome sequencing data via knockoff statistics.
    He, Z, Liu, L, Wang, C, Le Guen, Y, Lee, J, Gogarten, S, Lu, F, Montgomery, S, Tang, H, Silverman, EK et al..
    Nat Commun. 2021;12 (1):3152. doi: 10.1038/s41467-021-22889-4.
    PubMed PMID:34035245 PubMed Central PMC8149672.
  36. Reconcile the debate over protective effects of BCG vaccine against COVID-19.
    Fu, W, Ho, PC, Liu, CL, Tzeng, KT, Nayeem, N, Moore, JS, Wang, LS, Chou, SY.
    Sci Rep. 2021;11 (1):8356. doi: 10.1038/s41598-021-87731-9.
    PubMed PMID:33863950 PubMed Central PMC8052320.
  37. Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer's disease.
    He, L, Loika, Y, Park, Y, Genotype Tissue Expression (GTEx) consortium, Bennett, DA, Kellis, M, Kulminski, AM, Alzheimer’s Disease Neuroimaging Initiative.
    Transl Psychiatry. 2021;11 (1):146. doi: 10.1038/s41398-021-01263-4.
    PubMed PMID:33637690 PubMed Central PMC7910483.
  38. Long runs of homozygosity are associated with Alzheimer's disease.
    Moreno-Grau, S, Fernández, MV, de Rojas, I, Garcia-González, P, Hernández, I, Farias, F, Budde, JP, Quintela, I, Madrid, L, González-Pérez, A et al..
    Transl Psychiatry. 2021;11 (1):142. doi: 10.1038/s41398-020-01145-1.
    PubMed PMID:33627629 PubMed Central PMC7904832.
  39. Lack of evidence supporting a role for DPP6 sequence variants in Alzheimer's disease in the European American population.
    Kirola, L, Budde, JP, Wang, F, Norton, J, Morris, JC, NIA-LOAD family study group, NCRAD, the ADSP project, Cruchaga, C, Fernández, MV.
    Acta Neuropathol. 2021;141 (4):623-624. doi: 10.1007/s00401-021-02271-w.
    PubMed PMID:33591372 PubMed Central PMC7952336.
  40. Harnessing the paradoxical phenotypes of APOE ɛ2 and APOE ɛ4 to identify genetic modifiers in Alzheimer's disease.
    Kim, YW, Al-Ramahi, I, Koire, A, Wilson, SJ, Konecki, DM, Mota, S, Soleimani, S, Botas, J, Lichtarge, O.
    Alzheimers Dement. 2021;17 (5):831-846. doi: 10.1002/alz.12240.
    PubMed PMID:33576571 PubMed Central PMC8247413.
  41. Tailor: Targeting heavy tails in flow cytometry data with fast, interpretable mixture modeling.
    Ionita, M, Schretzenmair, R, Jones, D, Moore, J, Wang, LS, Rogers, W.
    Cytometry A. 2021;99 (2):133-144. doi: 10.1002/cyto.a.24307.
    PubMed PMID:33476090 .
  42. Using INFERNO to Infer the Molecular Mechanisms Underlying Noncoding Genetic Associations.
    Amlie-Wolf, A, Kuksa, PP, Lee, CY, Mlynarski, E, Leung, YY, Wang, LS.
    Methods Mol Biol. 2021;2254 :73-91. doi: 10.1007/978-1-0716-1158-6_6.
    PubMed PMID:33326071 .
  43. An integrated multi-omics approach identifies epigenetic alterations associated with Alzheimer's disease.
    Nativio, R, Lan, Y, Donahue, G, Sidoli, S, Berson, A, Srinivasan, AR, Shcherbakova, O, Amlie-Wolf, A, Nie, J, Cui, X et al..
    Nat Genet. 2020;52 (10):1024-1035. doi: 10.1038/s41588-020-0696-0.
    PubMed PMID:32989324 PubMed Central PMC8098004.
  44. Examination of the Effect of Rare Variants in TREM2, ABI3, and PLCG2 in LOAD Through Multiple Phenotypes.
    Olive, C, Ibanez, L, Farias, FHG, Wang, F, Budde, JP, Norton, JB, Gentsch, J, Morris, JC, Li, Z, Dube, U et al..
    J Alzheimers Dis. 2020;77 (4):1469-1482. doi: 10.3233/JAD-200019.
    PubMed PMID:32894242 PubMed Central PMC7927150.
  45. Reply: CYLD variants in frontotemporal dementia associated with severe memory impairment in a Portuguese cohort.
    Oyston, LJ, Chatterton, Z, Hallupp, M, Rajan, N, Kwok, JB, Dobson-Stone, C.
    Brain. 2020;143 (8):e68. doi: 10.1093/brain/awaa184.
    PubMed PMID:32666099 PubMed Central PMC7447510.
  46. Whole-Exome Sequencing Analysis of Alzheimer's Disease in Non-APOE*4 Carriers.
    Fan, KH, Feingold, E, Rosenthal, SL, Demirci, FY, Ganguli, M, Lopez, OL, Kamboh, MI.
    J Alzheimers Dis. 2020;76 (4):1553-1565. doi: 10.3233/JAD-200037.
    PubMed PMID:32651314 PubMed Central PMC7484092.
  47. SparkINFERNO: a scalable high-throughput pipeline for inferring molecular mechanisms of non-coding genetic variants.
    Kuksa, PP, Lee, CY, Amlie-Wolf, A, Gangadharan, P, Mlynarski, EE, Chou, YF, Lin, HJ, Issen, H, Greenfest-Allen, E, Valladares, O et al..
    Bioinformatics. 2020;36 (12):3879-3881. doi: 10.1093/bioinformatics/btaa246.
    PubMed PMID:32330239 PubMed Central PMC7320617.
  48. Packaging Biocomputing Software to Maximize Distribution and Reuse.
    Bush, WS, Wheeler, N, Beaulieu-Jones, B, Darabos, C.
    Pac Symp Biocomput. 2020;25 :739-742. .
    PubMed PMID:31797644 .
  49. Hadoop and PySpark for reproducibility and scalability of genomic sequencing studies.
    Wheeler, NR, Benchek, P, Kunkle, BW, Hamilton-Nelson, KL, Warfe, M, Fondran, JR, Haines, JL, Bush, WS.
    Pac Symp Biocomput. 2020;25 :523-534. .
    PubMed PMID:31797624 PubMed Central PMC6956992.
  50. Alzheimer Disease Pathology-Associated Polymorphism in a Complex Variable Number of Tandem Repeat Region Within the MUC6 Gene, Near the AP2A2 Gene.
    Katsumata, Y, Fardo, DW, Bachstetter, AD, Artiushin, SC, Wang, WX, Wei, A, Brzezinski, LJ, Nelson, BG, Huang, Q, Abner, EL et al..
    J Neuropathol Exp Neurol. 2020;79 (1):3-21. doi: 10.1093/jnen/nlz116.
    PubMed PMID:31748784 PubMed Central PMC8204704.
  51. Inferring the Molecular Mechanisms of Noncoding Alzheimer's Disease-Associated Genetic Variants.
    Amlie-Wolf, A, Tang, M, Way, J, Dombroski, B, Jiang, M, Vrettos, N, Chou, YF, Zhao, Y, Kuzma, A, Mlynarski, EE et al..
    J Alzheimers Dis. 2019;72 (1):301-318. doi: 10.3233/JAD-190568.
    PubMed PMID:31561366 PubMed Central PMC7316086.
  52. Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight.
    Ebbert, MTW, Jensen, TD, Jansen-West, K, Sens, JP, Reddy, JS, Ridge, PG, Kauwe, JSK, Belzil, V, Pregent, L, Carrasquillo, MM et al..
    Genome Biol. 2019;20 (1):97. doi: 10.1186/s13059-019-1707-2.
    PubMed PMID:31104630 PubMed Central PMC6526621.
  53. PTCD1 Is Required for Mitochondrial Oxidative-Phosphorylation: Possible Genetic Association with Alzheimer's Disease.
    Fleck, D, Phu, L, Verschueren, E, Hinkle, T, Reichelt, M, Bhangale, T, Haley, B, Wang, Y, Graham, R, Kirkpatrick, DS et al..
    J Neurosci. 2019;39 (24):4636-4656. doi: 10.1523/JNEUROSCI.0116-19.2019.
    PubMed PMID:30948477 PubMed Central PMC6561697.
  54. Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry.
    Patel, D, Mez, J, Vardarajan, BN, Staley, L, Chung, J, Zhang, X, Farrell, JJ, Rynkiewicz, MJ, Cannon-Albright, LA, Teerlink, CC et al..
    JAMA Netw Open. 2019;2 (3):e191350. doi: 10.1001/jamanetworkopen.2019.1350.
    PubMed PMID:30924900 PubMed Central PMC6450321.
  55. DASHR 2.0: integrated database of human small non-coding RNA genes and mature products.
    Kuksa, PP, Amlie-Wolf, A, Katanić, Ž, Valladares, O, Wang, LS, Leung, YY.
    Bioinformatics. 2019;35 (6):1033-1039. doi: 10.1093/bioinformatics/bty709.
    PubMed PMID:30668832 PubMed Central PMC6419920.
  56. Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease.
    Beecham, GW, Vardarajan, B, Blue, E, Bush, W, Jaworski, J, Barral, S, DeStefano, A, Hamilton-Nelson, K, Kunkle, B, Martin, ER et al..
    Neurol Genet. 2018;4 (6):e286. doi: 10.1212/NXG.0000000000000286.
    PubMed PMID:30569016 PubMed Central PMC6278241.
  57. A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease.
    Zhang, X, Zhu, C, Beecham, G, Vardarajan, BN, Ma, Y, Lancour, D, Farrell, JJ, Chung, J, Alzheimer's Disease Sequencing Project, Mayeux, R et al..
    Alzheimers Dement. 2019;15 (3):441-452. doi: 10.1016/j.jalz.2018.10.005.
    PubMed PMID:30503768 PubMed Central PMC6408965.
  58. Translating Alzheimer's disease-associated polymorphisms into functional candidates: a survey of IGAP genes and SNPs.
    Katsumata, Y, Nelson, PT, Estus, S, Alzheimer's Disease Neuroimaging Initiative (ADNI), Fardo, DW.
    Neurobiol Aging. 2019;74 :135-146. doi: 10.1016/j.neurobiolaging.2018.10.017.
    PubMed PMID:30448613 PubMed Central PMC6331247.
  59. VCPA: genomic variant calling pipeline and data management tool for Alzheimer's Disease Sequencing Project.
    Leung, YY, Valladares, O, Chou, YF, Lin, HJ, Kuzma, AB, Cantwell, L, Qu, L, Gangadharan, P, Salerno, WJ, Schellenberg, GD et al..
    Bioinformatics. 2019;35 (10):1768-1770. doi: 10.1093/bioinformatics/bty894.
    PubMed PMID:30351394 PubMed Central PMC6513159.
  60. INFERNO: inferring the molecular mechanisms of noncoding genetic variants.
    Amlie-Wolf, A, Tang, M, Mlynarski, EE, Kuksa, PP, Valladares, O, Katanic, Z, Tsuang, D, Brown, CD, Schellenberg, GD, Wang, LS et al..
    Nucleic Acids Res. 2018;46 (17):8740-8753. doi: 10.1093/nar/gky686.
    PubMed PMID:30113658 PubMed Central PMC6158604.
  61. Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.
    Bis, JC, Jian, X, Kunkle, BW, Chen, Y, Hamilton-Nelson, KL, Bush, WS, Salerno, WJ, Lancour, D, Ma, Y, Renton, AE et al..
    Mol Psychiatry. 2020;25 (8):1859-1875. doi: 10.1038/s41380-018-0112-7.
    PubMed PMID:30108311 PubMed Central PMC6375806.
  62. Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease.
    Raghavan, NS, Brickman, AM, Andrews, H, Manly, JJ, Schupf, N, Lantigua, R, Wolock, CJ, Kamalakaran, S, Petrovski, S, Tosto, G et al..
    Ann Clin Transl Neurol. 2018;5 (7):832-842. doi: 10.1002/acn3.582.
    PubMed PMID:30009200 PubMed Central PMC6043775.
  63. Integrative DNA copy number detection and genotyping from sequencing and array-based platforms.
    Zhou, Z, Wang, W, Wang, LS, Zhang, NR.
    Bioinformatics. 2018;34 (14):2349-2355. doi: 10.1093/bioinformatics/bty104.
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