Publications

Selected Publications

Yang C, Farias FHG, Ibanez L, Suhy A, Sadler B, Fernandez MV, Wang F, Bradley JL, Eiffert B, Bahena JA, Budde JP, Li Z, Dube U, Sung YJ, Mihindukulasuriya KA, Morris JC, Fagan AM, Perrin RJ, Benitez BA, Rhinn H, Harari O, Cruchaga C. Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders. Nat Neurosci. 2021 Jul 8. doi: 10.1038/s41593-021-00886-6. Epub ahead of print. PMID: 34239129.
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Yuetiva Deming, Fabia Filipello, Francesca Cignarella, Claudia Cantoni, Simon Hsu, Robert Mikesell, Zeran Li, Jorge L Del-Aguila, Umber Dube, Fabiana Geraldo Farias, Joseph Bradley, Bruno Benitez, John Budde, Laura Ibanez, Maria Victoria Fernandez,…,  Oscar Harari, Christian Haass, Thomas J Brett, Celeste M. Karch, Laura Piccio, Carlos Cruchaga. The MS4A gene cluster is a key regulator of soluble TREM2 and Alzheimer disease risk. Sci Transl Med. 2019 Aug 14;11(505). pii: eaau2291. doi: 10.1126/scitranslmed.aau2291. PMID: 31413141
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Jiang S, Wen N, Li Z, Dube U, Del Aguila J, Budde J, Martinez R, Hsu S, Fernandez MV, Cairns NJ; Dominantly Inherited Alzheimer Network (DIAN); International FTD-Genomics Consortium (IFGC), Harari O, Cruchaga C, Karch CM.  Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP.  Transl Psychiatry. 2018; 8(1):265.
This paper was among the 2018 Editor’s picks for Translational Psychiatry
Karch CM, Hernández D, Wang JC, Marsh J, Hewitt AW, Hsu S, Norton J, Levitch D, Donahue T, Sigurdson W, Ghetti B, Farlow M, Chhatwal J, Berman S, Cruchaga C, Morris JC, Bateman RJ; Dominantly Inherited Alzheimer Network (DIAN), Pébay A, Goate AM. Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network. Alzheimers Res Ther. 2018; 10(1):69. PMCID: PMC6060509
Deming Y, Li Z, Kapoor M, Harari O, Del-Aguila JL, Black K, Carrell D, Cai Y, Fernandez MV, Budde J, Ma S, Saef B, Howells B, Huang KL, Bertelsen S,…, Fagan AM, Holtzman DM, Morris JC, Kim S, Saykin AJ, De Jager PL,  Kauwe JS, Goate AM, Cruchaga C.  Genome-wide association study identifies four novel loci associated with Alzheimer’s endophenotypes and disease modifiers. Acta Neuropathol. 2017; 133(5):839-856. PMCID: PMC5613285
Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, Hsu     S, Choi J, Ryten M; UK Brain Expression Consortium, … Cairns N, Morris JC, Kauwe JS, Goate AM. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease. Nature 2014; 505(7484):550-4.  PMCID: PMC4050701
2021
  1. Kirola L, Budde JP, Wang F, Norton J, Morris JC; NIA-LOAD family study group, NCRAD, the ADSP project, Cruchaga C, Fernández MV. Lack of evidence supporting a role for DPP6 sequence variants in Alzheimer’s disease in the European American population. Acta Neuropathol. 2021 Feb 16. doi: 10.1007/s00401-021-02271-w
  2. Heitsch L, Ibanez L, Carrera C, Binkley MM, Strbian D, Tatlisumak T, Bustamante A, Ribó M, Molina C, Dávalos A, López-Cancio E, Muñoz-Narbona L, Soriano-Tárraga C, Giralt-Steinhauer E, Obach V, Slowik A, Pera J, Lapicka-Bodzioch K, Derbisz J, Sobrino T, Castillo J, Campos F, Rodríguez-Castro E, Arias-Rivas S, Segura T, Serrano-Heras G, Vives-Bauza C, Díaz-Navarro R, Tur S, Jimenez C, Martí-Fàbregas J, Delgado-Mederos R, Arenillas J, Krupinski J, Cullell N, Torres-Aguila NP, Muiño E, Cárcel-Márquez J, Moniche F, Cabezas JA, Ford AL, Dhar R, Roquer J, Khatri P, Jiménez-Conde J, Fernandez-Cadenas I, Montaner J, Rosand J, Cruchaga C, Lee J-M. Early Neurological Change After Ischemic Stroke Is Associated With 90-Day Outcome. Stroke. 2021;52(1):132-141. doi:10.1161/STROKEAHA.119.028687
  3. Farias FHG, Benitez BA, Cruchaga C. Quantitative endophenotypes as an alternative approach to understanding genetic risk  in neurodegenerative diseases. Neurobiol Dis. Published online January 2021:105247. doi:10.1016/j.nbd.2020.105247
2020
  1. Olive C, Ibanez L, Farias FHG, Wang F, Budde JP, Norton JB, Gentsch J, Morris JC, Li Z, Dube U, Del-Aguila J, Bergmann K, Bradley J, Benitez BA, Harari O, Fagan A, Ances B, Cruchaga C, Fernandez MV. Examination of the Effect of Rare Variants in TREM2, ABI3, and PLCG2 in LOAD Through  Multiple Phenotypes. J Alzheimers Dis. 2020;77(4):1469-1482. doi:10.3233/JAD-200019
  2. Li Z, Farias FHG, Dube U, Del-Aguila JL, Mihindukulasuriya KA, Fernandez MV, Ibanez L, Budde JP, Wang F, Lake AM, Deming Y, Perez J, Yang C, Bahena JA, Qin W, Bradley JL, Davenport R, Bergmann K, Morris JC, Perrin RJ, Benitez BA, Dougherty JD, Harari O, Cruchaga C. The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased  neuronal proportion. Acta Neuropathol. 2020;139(1):45-61. doi:10.1007/s00401-019-02066-0
  3. Lananna B V, McKee CA, King MW, Del-Aguila JL, Dimitry JM, Farias FHG, Nadarajah CJ, Xiong DD, Guo C, Cammack AJ, Elias JA, Zhang J, Cruchaga C, Musiek ES. Chi3l1/YKL-40 is controlled by the astrocyte circadian clock and regulates  neuroinflammation and Alzheimer’s disease pathogenesis. Sci Transl Med. 2020;12(574). doi:10.1126/scitranslmed.aax3519
  4. Ibanez L, Heitsch L, Carrera C, Farias FHG, Dhar R, Budde J, Bergmann K, Bradley J, Cruchaga C, et al. Multi-ancestry genetic study in 5,876 patients identifies an association between  excitotoxic genes and early outcomes after acute ischemic stroke. medRxiv  Prepr Serv Heal Sci. Published online November 2020. doi:10.1101/2020.10.29.20222257
  5. Ibanez L, Bahena JA, Yang C, Dube U, Farias FHG, Budde JP, Bergmann K, Brenner-Webster C, Morris JC, Perrin RJ, Cairns NJ, O’Donnell J, Álvarez I, Diez-Fairen M, Aguilar M, Miller R, Davis AA, Pastor P, Kotzbauer P, Campbell MC, Perlmutter JS, Rhinn H, Harari O, Cruchaga C, Benitez BA. Functional genomic analyses uncover APOE-mediated regulation of brain and  cerebrospinal fluid beta-amyloid levels in Parkinson disease. Acta Neuropathol Commun. 2020;8(1):196. doi:10.1186/s40478-020-01072-8
  6. Dube U, Ibanez L, Budde JP, Benitez BA, Davis AA, Harari O, Iles MM, Law MH, Brown KM, Cruchaga C. Overlapping genetic architecture between Parkinson disease and melanoma. Acta Neuropathol. 2020;139(2):347-364. doi:10.1007/s00401-019-02110-z