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Alzheimer's disease: rare variants with large effect sizes.
Del-Aguila JL, Koboldt DC, Black K, Chasse R, Norton J, Wilson RK, Cruchaga C. Del-Aguila JL, et al. Among authors: black k. Curr Opin Genet Dev. 2015 Aug;33:49-55. doi: 10.1016/j.gde.2015.07.008. Epub 2015 Aug 22. Curr Opin Genet Dev. 2015. PMID: 26311074 Review.
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. Fernández MV, et al. Among authors: black k. Eur J Hum Genet. 2016 Dec;24(12):1828-1830. doi: 10.1038/ejhg.2016.122. Epub 2016 Sep 21. Eur J Hum Genet. 2016. PMID: 27650968 Free PMC article.
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. Deming Y, et al. Among authors: black k. Acta Neuropathol. 2017 May;133(5):839-856. doi: 10.1007/s00401-017-1685-y. Epub 2017 Feb 28. Acta Neuropathol. 2017. PMID: 28247064 Free PMC article.
Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.
Fernández MV, Kim JH, Budde JP, Black K, Medvedeva A, Saef B, Deming Y, Del-Aguila J, Ibañez L, Dube U, Harari O, Norton J, Chasse R, Morris JC, Goate A; NIA-LOAD family study group; NCRAD; Cruchaga C. Fernández MV, et al. Among authors: black k. PLoS Genet. 2017 Nov 1;13(11):e1007045. doi: 10.1371/journal.pgen.1007045. eCollection 2017 Nov. PLoS Genet. 2017. PMID: 29091718 Free PMC article.
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. Del-Aguila JL, et al. Among authors: black k. J Alzheimers Dis. 2018;62(2):745-756. doi: 10.3233/JAD-170834. J Alzheimers Dis. 2018. PMID: 29480181 Free PMC article.
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. Li Z, et al. Among authors: black k. Genome Med. 2018 Jun 8;10(1):43. doi: 10.1186/s13073-018-0551-4. Genome Med. 2018. PMID: 29880032 Free PMC article.
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. Deming Y, et al. Among authors: black k. BMC Neurol. 2016 Nov 10;16(1):217. doi: 10.1186/s12883-016-0742-9. BMC Neurol. 2016. PMID: 27832767 Free PMC article.
TMEM230 in Parkinson's disease.
Ibanez L, Dube U, Budde J, Black K, Medvedeva A, Davis AA, Perlmutter JS, Benitez BA, Cruchaga C. Ibanez L, et al. Among authors: black k. Neurobiol Aging. 2017 Aug;56:212.e1-212.e3. doi: 10.1016/j.neurobiolaging.2017.03.014. Epub 2017 Mar 16. Neurobiol Aging. 2017. PMID: 28457580 Free PMC article.
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. Cruchaga C, et al. Among authors: black k. Alzheimers Dement. 2018 Feb;14(2):205-214. doi: 10.1016/j.jalz.2017.08.013. Epub 2017 Sep 21. Alzheimers Dement. 2018. PMID: 28943286 Free PMC article.
1,984 results