ADGC Publications

Found 31 results
Filters: Author is Cruchaga, Carlos  [Clear All Filters]
2023
Ray NR, Ayodele T, Jean-Francois M, Baez P, Fernandez V, Bradley J, Crane PK, Dalgard CL, Kuzma A, Nicaretta H et al..  2023.  The Early-Onset Alzheimer's Disease Whole-Genome Sequencing Project: Study design and methodology.. Alzheimers Dement.
2022
Holstege H, Hulsman M, Charbonnier C, Grenier-Boley B, Quenez O, Grozeva D, van Rooij JGJ, Sims R, Ahmad S, Amin N et al..  2022.  Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.. Nat Genet. 54(12):1786-1794.
Eissman JM, Dumitrescu L, Mahoney ER, Smith AN, Mukherjee S, Lee ML, Scollard P, Choi SEun, Bush WS, Engelman CD et al..  2022.  Sex differences in the genetic architecture of cognitive resilience to Alzheimer's disease.. Brain. 145(7):2541-2554.
2020
Dumitrescu L, Mahoney ER, Mukherjee S, Lee ML, Bush WS, Engelman CD, Lu Q, Fardo DW, Trittschuh EH, Mez J et al..  2020.  Genetic variants and functional pathways associated with resilience to Alzheimer's disease.. Brain. 143(8):2561-2575.
Sherva R, Gross A, Mukherjee S, Koesterer R, Amouyel P, Bellenguez C, Dufouil C, Bennett DA, Chibnik L, Cruchaga C et al..  2020.  Genome-wide association study of rate of cognitive decline in Alzheimer's disease patients identifies novel genes and pathways.. Alzheimers Dement. 16(8):1134-1145.
2019
Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE et al..  2019.  Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.. Mol Psychiatry.
Baker E, Sims R, Leonenko G, Frizzati A, Harwood JC, Grozeva D, Morgan K, Passmore P, Holmes C, Powell J et al..  2019.  Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease.. PLoS One. 14(7):e0218111.
Dumitrescu L, Barnes LL, Thambisetty M, Beecham G, Kunkle B, Bush WS, Gifford KA, Chibnik LB, Mukherjee S, De Jager PL et al..  2019.  Sex differences in the genetic predictors of Alzheimer's pathology.. Brain. 142(9):2581-2589.
2018
Blue EE, Bis JC, Dorschner MO, Tsuang DW, Barral SM, Beecham G, Below JE, Bush WS, Butkiewicz M, Cruchaga C et al..  2018.  Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.. Dement Geriatr Cogn Disord. 45(1-2):1-17.
Deming Y, Dumitrescu L, Barnes LL, Thambisetty M, Kunkle B, Gifford KA, Bush WS, Chibnik LB, Mukherjee S, De Jager PL et al..  2018.  Sex-specific genetic predictors of Alzheimer's disease biomarkers.. Acta Neuropathol. 136(6):857-872.
Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE et al..  2018.  Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.. Mol Psychiatry.
2017
Rehker J, Rodhe J, Nesbitt RR, Boyle EA, Martin BK, Lord J, Karaca I, Naj A, Jessen F, Helisalmi S et al..  2017.  Caspase-8, association with Alzheimer's Disease and functional analysis of rare variants.. PLoS One. 12(10):e0185777.
Huang K-L, Marcora E, Pimenova AA, Di Narzo AF, Kapoor M, Jin SChih, Harari O, Bertelsen S, Fairfax BP, Czajkowski J et al..  2017.  A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.. Nat Neurosci. 20(8):1052-1061.
Haddick PCG, Larson JL, Rathore N, Bhangale TR, Phung QT, Srinivasan K, Hansen DV, Lill JR, Pericak-Vance MA, Haines J et al..  2017.  A Common Variant of IL-6R is Associated with Elevated IL-6 Pathway Activity in Alzheimer's Disease Brains.. J Alzheimers Dis. 56(3):1037-1054.
Deming Y, Li Z, Kapoor M, Harari O, Del-Aguila JL, Black K, Carrell D, Cai Y, Fernandez MVictoria, Budde J et al..  2017.  Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers.. Acta Neuropathol. 133(5):839-856.
Chapuis J, Flaig A, Grenier-Boley B, Eysert F, Pottiez V, Deloison G, Vandeputte A, Ayral A-M, Mendes T, Desai S et al..  2017.  Genome-wide, high-content siRNA screening identifies the Alzheimer's genetic risk factor FERMT2 as a major modulator of APP metabolism.. Acta Neuropathol. 133(6):955-966.
Jun GR, Chung J, Mez J, Barber R, Beecham GW, Bennett DA, Buxbaum JD, Byrd GS, Carrasquillo MM, Crane PK et al..  2017.  Transethnic genome-wide scan identifies novel Alzheimer's disease loci.. Alzheimers Dement. 13(7):727-738.
2016
Yokoyama JS, Wang Y, Schork AJ, Thompson WK, Karch CM, Cruchaga C, McEvoy LK, Witoelar A, Chen C-H, Holland D et al..  2016.  Association Between Genetic Traits for Immune-Mediated Diseases and Alzheimer Disease.. JAMA Neurol. 73(6):691-7.
2015
Escott-Price V, Sims R, Bannister C, Harold D, Vronskaya M, Majounie E, Badarinarayan N, Morgan K, Passmore P, Holmes C et al..  2015.  Common polygenic variation enhances risk prediction for Alzheimer's disease.. Brain. 138(Pt 12):3673-84.
Wang L-S, Naj AC, Graham RR, Crane PK, Kunkle BW, Cruchaga C, Murcia JDGonzalez, Cannon-Albright L, Baldwin CT, Zetterberg H et al..  2015.  Rarity of the Alzheimer disease-protective APP A673T variant in the United States.. JAMA Neurol. 72(2):209-16.
2014
Naj AC, Jun G, Reitz C, Kunkle BW, Perry W, Park YSon, Beecham GW, Rajbhandary RA, Hamilton-Nelson KL, Wang L-S et al..  2014.  Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study.. JAMA Neurol. 71(11):1394-404.
Escott-Price V, Bellenguez C, Wang L-S, Choi S-H, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A et al..  2014.  Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.. PLoS One. 9(6):e94661.
Kauwe JSK, Bailey MH, Ridge PG, Perry R, Wadsworth ME, Hoyt KL, Staley LA, Karch CM, Harari O, Cruchaga C et al..  2014.  Genome-wide association study of CSF levels of 59 alzheimer's disease candidate proteins: significant associations with proteins involved in amyloid processing and inflammation.. PLoS Genet. 10(10):e1004758.
Benitez BA, Jin SChih, Guerreiro R, Graham R, Lord J, Harold D, Sims R, Lambert J-C, J Gibbs R, Bras J et al..  2014.  Missense variant in TREML2 protects against Alzheimer's disease.. Neurobiol Aging. 35(6):1510.e19-26.
Wetzel-Smith MK, Hunkapiller J, Bhangale TR, Srinivasan K, Maloney JA, Atwal JK, Sa SM, Yaylaoglu MB, Foreman O, Ortmann W et al..  2014.  A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death.. Nat Med. 20(12):1452-7.

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