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Items: 23

1.

The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion.

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.

Acta Neuropathol. 2019 Aug 27. doi: 10.1007/s00401-019-02066-0. [Epub ahead of print]

PMID:
31456032
2.

The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk.

Deming Y, Filipello F, Cignarella F, Cantoni C, Hsu S, Mikesell R, Li Z, Del-Aguila JL, Dube U, Farias FG, Bradley J, Budde J, Ibanez L, Fernandez MV, Blennow K, Zetterberg H, Heslegrave A, Johansson PM, Svensson J, Nellgård B, Lleo A, Alcolea D, Clarimon J, Rami L, Molinuevo JL, Suárez-Calvet M, Morenas-Rodríguez E, Kleinberger G, Ewers M, Harari O, Haass C, Brett TJ, Benitez BA, Karch CM, Piccio L, Cruchaga C.

Sci Transl Med. 2019 Aug 14;11(505). pii: eaau2291. doi: 10.1126/scitranslmed.aau2291.

PMID:
31413141
3.

A single-nuclei RNA sequencing study of Mendelian and sporadic AD in the human brain.

Del-Aguila JL, Li Z, Dube U, Mihindukulasuriya KA, Budde JP, Fernandez MV, Ibanez L, Bradley J, Wang F, Bergmann K, Davenport R, Morris JC, Holtzman DM, Perrin RJ, Benitez BA, Dougherty J, Cruchaga C, Harari O.

Alzheimers Res Ther. 2019 Aug 9;11(1):71. doi: 10.1186/s13195-019-0524-x.

4.

TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers.

Del-Aguila JL, Benitez BA, Li Z, Dube U, Mihindukulasuriya KA, Budde JP, Farias FHG, Fernández MV, Ibanez L, Jiang S, Perrin RJ, Cairns NJ, Morris JC, Harari O, Cruchaga C.

Mol Neurodegener. 2019 May 8;14(1):18. doi: 10.1186/s13024-019-0319-3.

5.

Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging.

Yan Q, Nho K, Del-Aguila JL, Wang X, Risacher SL, Fan KH, Snitz BE, Aizenstein HJ, Mathis CA, Lopez OL, Demirci FY, Feingold E, Klunk WE, Saykin AJ; Alzheimer’s Disease Neuroimaging Initiative (ADNI), Cruchaga C, Kamboh MI.

Mol Psychiatry. 2018 Oct 25. doi: 10.1038/s41380-018-0246-7. [Epub ahead of print]

6.

Genome-wide association study for variants that modulate relationships between cerebrospinal fluid amyloid-beta 42, tau, and p-tau levels.

Maxwell TJ, Corcoran C, Del-Aguila JL, Budde JP, Deming Y, Cruchaga C, Goate AM, Kauwe JSK; Alzheimer’s Disease Neuroimaging Initiative.

Alzheimers Res Ther. 2018 Aug 28;10(1):86. doi: 10.1186/s13195-018-0410-y.

7.

Sex-specific genetic predictors of Alzheimer's disease biomarkers.

Deming Y, Dumitrescu L, Barnes LL, Thambisetty M, Kunkle B, Gifford KA, Bush WS, Chibnik LB, Mukherjee S, De Jager PL, Kukull W, Huentelman M, Crane PK, Resnick SM, Keene CD, Montine TJ, Schellenberg GD, Haines JL, Zetterberg H, Blennow K, Larson EB, Johnson SC, Albert M, Moghekar A, Del Aguila JL, Fernandez MV, Budde J, Hassenstab J, Fagan AM, Riemenschneider M, Petersen RC, Minthon L, Chao MJ, Van Deerlin VM, Lee VM, Shaw LM, Trojanowski JQ, Peskind ER, Li G, Davis LK, Sealock JM, Cox NJ; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer Disease Genetics Consortium (ADGC), Goate AM, Bennett DA, Schneider JA, Jefferson AL, Cruchaga C, Hohman TJ.

Acta Neuropathol. 2018 Dec;136(6):857-872. doi: 10.1007/s00401-018-1881-4. Epub 2018 Jul 2.

PMID:
29967939
8.

Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure.

Li Z, Del-Aguila JL, Dube U, Budde J, Martinez R, Black K, Xiao Q, Cairns NJ; Dominantly Inherited Alzheimer Network (DIAN), Dougherty JD, Lee JM, Morris JC, Bateman RJ, Karch CM, Cruchaga C, Harari O.

Genome Med. 2018 Jun 8;10(1):43. doi: 10.1186/s13073-018-0551-4.

9.

Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease.

Fernández MV, Budde J, Del-Aguila JL, Ibañez L, Deming Y, Harari O, Norton J, Morris JC, Goate AM; NIA-LOAD family study group; NCRAD, Cruchaga C.

Front Neurosci. 2018 Apr 4;12:209. doi: 10.3389/fnins.2018.00209. eCollection 2018.

10.

Assessment of the Genetic Architecture of Alzheimer's Disease Risk in Rate of Memory Decline.

Del-Aguila JL, Fernández MV, Schindler S, Ibanez L, Deming Y, Ma S, Saef B, Black K, Budde J, Norton J, Chasse R; Alzheimer’s Disease Neuroimaging Initiative (ADNI), Harari O, Goate A, Xiong C, Morris JC, Cruchaga C.

J Alzheimers Dis. 2018;62(2):745-756. doi: 10.3233/JAD-170834.

11.

Parkinson disease polygenic risk score is associated with Parkinson disease status and age at onset but not with alpha-synuclein cerebrospinal fluid levels.

Ibanez L, Dube U, Saef B, Budde J, Black K, Medvedeva A, Del-Aguila JL, Davis AA, Perlmutter JS, Harari O, Benitez BA, Cruchaga C.

BMC Neurol. 2017 Nov 15;17(1):198. doi: 10.1186/s12883-017-0978-z.

12.

ApoE4 markedly exacerbates tau-mediated neurodegeneration in a mouse model of tauopathy.

Shi Y, Yamada K, Liddelow SA, Smith ST, Zhao L, Luo W, Tsai RM, Spina S, Grinberg LT, Rojas JC, Gallardo G, Wang K, Roh J, Robinson G, Finn MB, Jiang H, Sullivan PM, Baufeld C, Wood MW, Sutphen C, McCue L, Xiong C, Del-Aguila JL, Morris JC, Cruchaga C; Alzheimer’s Disease Neuroimaging Initiative, Fagan AM, Miller BL, Boxer AL, Seeley WW, Butovsky O, Barres BA, Paul SM, Holtzman DM.

Nature. 2017 Sep 28;549(7673):523-527. doi: 10.1038/nature24016. Epub 2017 Sep 20.

13.

Polygenic risk score of sporadic late-onset Alzheimer's disease reveals a shared architecture with the familial and early-onset forms.

Cruchaga C, Del-Aguila JL, Saef B, Black K, Fernandez MV, Budde J, Ibanez L, Deming Y, Kapoor M, Tosto G, Mayeux RP, Holtzman DM, Fagan AM, Morris JC, Bateman RJ, Goate AM; Dominantly Inherited Alzheimer Network (DIAN); Disease Neuroimaging Initiative (ADNI); NIA-LOAD family study, Harari O.

Alzheimers Dement. 2018 Feb;14(2):205-214. doi: 10.1016/j.jalz.2017.08.013. Epub 2017 Sep 21.

14.

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.

Huang KL, Marcora E, Pimenova AA, Di Narzo AF, Kapoor M, Jin SC, Harari O, Bertelsen S, Fairfax BP, Czajkowski J, Chouraki V, Grenier-Boley B, Bellenguez C, Deming Y, McKenzie A, Raj T, Renton AE, Budde J, Smith A, Fitzpatrick A, Bis JC, DeStefano A, Adams HHH, Ikram MA, van der Lee S, Del-Aguila JL, Fernandez MV, Ibañez L; International Genomics of Alzheimer's Project; Alzheimer's Disease Neuroimaging Initiative, Sims R, Escott-Price V, Mayeux R, Haines JL, Farrer LA, Pericak-Vance MA, Lambert JC, van Duijn C, Launer L, Seshadri S, Williams J, Amouyel P, Schellenberg GD, Zhang B, Borecki I, Kauwe JSK, Cruchaga C, Hao K, Goate AM.

Nat Neurosci. 2017 Aug;20(8):1052-1061. doi: 10.1038/nn.4587. Epub 2017 Jun 19.

15.

Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers.

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, Albert M, Moghekar A, O'Brien R, Riemenschneider M, Petersen RC, Blennow K, Zetterberg H, Minthon L, Van Deerlin VM, Lee VM, Shaw LM, Trojanowski JQ, Schellenberg G, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Peskind ER, Li G, Di Narzo AF; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer Disease Genetic Consortium (ADGC), Kauwe JS, Goate AM, Cruchaga C.

Acta Neuropathol. 2017 May;133(5):839-856. doi: 10.1007/s00401-017-1685-y. Epub 2017 Feb 28.

16.

Chitinase-3-like 1 protein (CHI3L1) locus influences cerebrospinal fluid levels of YKL-40.

Deming Y, Black K, Carrell D, Cai Y, Del-Aguila JL, Fernandez MV, Budde J, Ma S, Saef B, Howells B, Bertelsen S, Huang KL, Sutphen CL, Tarawneh R, Fagan AM, Holtzman DM, Morris JC, Goate AM, Dougherty JD, Cruchaga C.

BMC Neurol. 2016 Nov 10;16(1):217.

17.

SORL1 variants across Alzheimer's disease European American cohorts.

Fernández MV, Black K, Carrell D, Saef B, Budde J, Deming Y, Howells B, Del-Aguila JL, Ma S, Bi C, Norton J, Chasse R, Morris J, Goate A, Cruchaga C; NIA-LOAD family study group, NCRAD.

Eur J Hum Genet. 2016 Dec;24(12):1828-1830. doi: 10.1038/ejhg.2016.122. Epub 2016 Sep 21.

18.

Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status.

Piccio L, Deming Y, Del-Águila JL, Ghezzi L, Holtzman DM, Fagan AM, Fenoglio C, Galimberti D, Borroni B, Cruchaga C.

Acta Neuropathol. 2016 Jun;131(6):925-33. doi: 10.1007/s00401-016-1533-5. Epub 2016 Jan 11.

19.

Role of ABCA7 loss-of-function variant in Alzheimer's disease: a replication study in European-Americans.

Del-Aguila JL, Fernández MV, Jimenez J, Black K, Ma S, Deming Y, Carrell D, Saef B; Alzheimer’s Disease Neuroimaging Initiative, Howells B, Budde J, Cruchaga C.

Alzheimers Res Ther. 2015 Dec 10;7(1):73. doi: 10.1186/s13195-015-0154-x.

20.

Alzheimer's disease: rare variants with large effect sizes.

Del-Aguila JL, Koboldt DC, Black K, Chasse R, Norton J, Wilson RK, Cruchaga C.

Curr Opin Genet Dev. 2015 Aug;33:49-55. doi: 10.1016/j.gde.2015.07.008. Epub 2015 Aug 22. Review.

PMID:
26311074
21.

Transethnic meta-analysis suggests genetic variation in the HEME pathway influences potassium response in patients treated with hydrochlorothiazide.

Del-Aguila JL, Cooper-DeHoff RM, Chapman AB, Gums JG, Beitelshees AL, Bailey K, Turner ST, Johnson JA, Boerwinkle E.

Pharmacogenomics J. 2015 Apr;15(2):153-7. doi: 10.1038/tpj.2014.46. Epub 2014 Sep 9.

22.

Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.

Del-Aguila JL, Beitelshees AL, Cooper-Dehoff RM, Chapman AB, Gums JG, Bailey K, Gong Y, Turner ST, Johnson JA, Boerwinkle E.

Pharmacogenomics J. 2014 Feb;14(1):35-40. doi: 10.1038/tpj.2013.3. Epub 2013 Feb 12.

23.

Association of KCNJ1 variation with change in fasting glucose and new onset diabetes during HCTZ treatment.

Karnes JH, McDonough CW, Gong Y, Vo TT, Langaee TY, Chapman AB, Gums JG, Beitelshees AL, Bailey KR, Del-Aguila JL, Boerwinkle EA, Pepine CJ, Turner ST, Johnson JA, Cooper-DeHoff RM.

Pharmacogenomics J. 2013 Oct;13(5):430-6. doi: 10.1038/tpj.2012.34. Epub 2012 Aug 21.

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