Publications

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An Efficient Platform for Astrocyte Differentiation from Human Induced Pluripotent Stem Cells.

Tcw J, Wang M, Pimenova AA, Bowles KR, Hartley BJ, Lacin E, Machlovi SI, Abdelaal R, Karch CM, Phatnani H, Slesinger PA, Zhang B, Goate AM, Brennand KJ. Stem Cell Reports. 2017 Aug 8;9(2):600-614. doi: 10.1016/j.stemcr.2017.06.018. Epub 2017 Jul 27. PMID: 28757165

Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score.

Desikan RS, Fan CC, Wang Y, Schork AJ, Cabral HJ, Cupples LA, Thompson WK, Besser L, Kukull WA, Holland D, Chen CH, Brewer JB, Karow DS, Kauppi K, Witoelar A, Karch CM, Bonham LW, Yokoyama JS, Rosen HJ, Miller BL, Dillon WP, Wilson DM, Hess CP, Pericak-Vance M, Haines JL, Farrer LA, Mayeux R, Hardy J, Goate AM, Hyman BT, Schellenberg GD, McEvoy LK, Andreassen OA, Dale AM. PLoS Med. 2017 Mar 21;14(3):e1002258. doi: 10.1371/journal.pmed.1002258. eCollection 2017 Mar. PMID: 28323831

Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia.

Yokoyama JS, Karch CM, Fan CC, Bonham LW, Kouri N, Ross OA, Rademakers R, Kim J, Wang Y, Höglinger GU, Müller U, Ferrari R, Hardy J; International FTD-Genomics Consortium (IFGC), Momeni P, Sugrue LP, Hess CP, James Barkovich A, Boxer AL, Seeley WW, Rabinovici GD, Rosen HJ, Miller BL, Schmansky NJ, Fischl B, Hyman BT, Dickson DW, Schellenberg GD, Andreassen OA, Dale AM, Desikan RS. Acta Neuropathol. 2017 May;133(5):825-837. doi: 10.1007/s00401-017-1693-y. Epub 2017 Mar 7. PMID: 28271184

Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms.

Kober DL, Alexander-Brett JM, Karch CM, Cruchaga C, Colonna M, Holtzman MJ, Brett TJ. Elife. 2016 Dec 20;5:e20391. doi: 10.7554/eLife.20391. PMID: 27995897

Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer’s and Parkinson’s diseases.

Ferrari R, Wang Y, Vandrovcova J, Guelfi S, Witeolar A, Karch CM, Schork AJ, Fan CC, Brewer JB; International FTD-Genomics Consortium (IFGC),; International Parkinson’s Disease Genomics Consortium (IPDGC),; International Genomics of Alzheimer’s Project (IGAP),, Momeni P, Schellenberg GD, Dillon WP, Sugrue LP, Hess CP, Yokoyama JS, Bonham LW, Rabinovici GD, Miller BL, Andreassen OA, Dale AM, Hardy J, Desikan RS. J Neurol Neurosurg Psychiatry. 2017 Feb;88(2):152-164. doi: 10.1136/jnnp-2016-314411. Epub 2016 Nov 29. PMID: 27899424

Association Between Genetic Traits for Immune-Mediated Diseases and Alzheimer Disease.

Yokoyama JS, Wang Y, Schork AJ, Thompson WK, Karch CM, Cruchaga C, McEvoy LK, Witoelar A, Chen CH, Holland D, Brewer JB, Franke A, Dillon WP, Wilson DM, Mukherjee P, Hess CP, Miller Z, Bonham LW, Shen J, Rabinovici GD, Rosen HJ, Miller BL, Hyman BT, Schellenberg GD, Karlsen TH, Andreassen OA, Dale AM, Desikan RS; Alzheimer’s Disease Neuroimaging Initiative. JAMA Neurol. 2016 Jun 1;73(6):691-7. doi: 10.1001/jamaneurol.2016.0150. PMID: 27088644

BKCa channel regulates calcium oscillations induced by alpha-2-macroglobulin in human myometrial smooth muscle cells.

Wakle-Prabagaran M, Lorca RA, Ma X, Stamnes SJ, Amazu C, Hsiao JJ, Karch CM, Hyrc KL, Wright ME, England SK. Proc Natl Acad Sci U S A. 2016 Apr 19;113(16):E2335-44. doi: 10.1073/pnas.1516863113. Epub 2016 Apr 4. PMID: 27044074

Alzheimer’s Disease Risk Polymorphisms Regulate Gene Expression in the ZCWPW1 and the CELF1 Loci.

Karch CM, Ezerskiy LA, Bertelsen S; Alzheimer’s Disease Genetics Consortium (ADGC), Goate AM. PLoS One. 2016 Feb 26;11(2):e0148717. doi: 10.1371/journal.pone.0148717. eCollection 2016. PMID: 26919393

Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features.

Karch CM, Ezerskiy L, Redaelli V, Giovagnoli AR, Tiraboschi P, Pelliccioni G, Pelliccioni P, Kapetis D, D’Amato I, Piccoli E, Ferretti MG, Tagliavini F, Rossi G. Neurobiol Aging. 2016 Feb;38:215.e1-215.e12. doi: 10.1016/j.neurobiolaging.2015.10.029. Epub 2015 Nov 2. PMID: 26652843

Alzheimer’s disease risk genes and mechanisms of disease pathogenesis.

Karch CM, Goate AM. Biol Psychiatry. 2015 Jan 1;77(1):43-51. doi: 10.1016/j.biopsych.2014.05.006. Epub 2014 May 17. PMID: 24951455

Genome-wide association study of CSF levels of 59 alzheimer’s disease candidate proteins: significant associations with proteins involved in amyloid processing and inflammation.

Kauwe JS, Bailey MH, Ridge PG, Perry R, Wadsworth ME, Hoyt KL, Staley LA, Karch CM, Harari O, Cruchaga C, Ainscough BJ, Bales K, Pickering EH, Bertelsen S; Alzheimer’s Disease Neuroimaging Initiative, Fagan AM, Holtzman DM, Morris JC, Goate AM. PLoS Genet. 2014 Oct 23;10(10):e1004758. doi: 10.1371/journal.pgen.1004758. eCollection 2014 Oct. PMID: 25340798

Alzheimer’s disease genetics: from the bench to the clinic.

Karch CM, Cruchaga C, Goate AM. Neuron. 2014 Jul 2;83(1):11-26. doi: 10.1016/j.neuron.2014.05.041. PMID: 24991952

Coding variants in TREM2 increase risk for Alzheimer’s disease.

Jin SC, Benitez BA, Karch CM, Cooper B, Skorupa T, Carrell D, Norton JB, Hsu S, Harari O, Cai Y, Bertelsen S, Goate AM, Cruchaga C. Hum Mol Genet. 2014 Nov 1;23(21):5838-46. doi: 10.1093/hmg/ddu277. Epub 2014 Jun 4. PMID: 24899047

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease.

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, Sassi C, Bras J, Gibbs RJ, Hernandez DG, Lupton MK, Powell J, Forabosco P, Ridge PG, Corcoran CD, Tschanz JT, Norton MC, Munger RG, Schmutz C, Leary M, Demirci FY, Bamne MN, Wang X, Lopez OL, Ganguli M, Medway C, Turton J, Lord J, Braae A, Barber I, Brown K; Alzheimer’s Research UK (ARUK) Consortium, Pastor P, Lorenzo-Betancor O, Brkanac Z, Scott E, Topol E, Morgan K, Rogaeva E, Singleton A, Hardy J, Kamboh MI, George-Hyslop PS, Cairns N, Morris JC, Kauwe JSK, Goate AM. Nature. 2014 Jan 23;505(7484):550-554. doi: 10.1038/nature12825. Epub 2013 Dec 11. PMID: 24336208

The PSEN1, p.E318G variant increases the risk of Alzheimer’s disease in APOE-ε4 carriers.

Benitez BA, Karch CM, Cai Y, Jin SC, Cooper B, Carrell D, Bertelsen S, Chibnik L, Schneider JA, Bennett DA; Alzheimer’s Disease Neuroimaging Initiative; Genetic and Environmental Risk for Alzheimer’s Disease Consortium GERAD, Fagan AM, Holtzman D, Morris JC, Goate AM, Cruchaga C. PLoS Genet. 2013;9(8):e1003685. doi: 10.1371/journal.pgen.1003685. Epub 2013 Aug 22. PMID: 23990795

Novel progranulin variants do not disrupt progranulin secretion and cleavage.

Karch CM, Jeng AT, Skorupa T, Cruchaga C, Goate AM. Neurobiol Aging. 2013 Nov;34(11):2538-40. doi: 10.1016/j.neurobiolaging.2013.05.004. Epub 2013 Jun 4. PMID: 23759146

GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer’s disease.

Cruchaga C, Kauwe JS, Harari O, Jin SC, Cai Y, Karch CM, Benitez BA, Jeng AT, Skorupa T, Carrell D, Bertelsen S, Bailey M, McKean D, Shulman JM, De Jager PL, Chibnik L, Bennett DA, Arnold SE, Harold D, Sims R, Gerrish A, Williams J, Van Deerlin VM, Lee VM, Shaw LM, Trojanowski JQ, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Peskind ER, Galasko D, Fagan AM, Holtzman DM, Morris JC; GERAD Consortium; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer Disease Genetic Consortium (ADGC), Goate AM. Neuron. 2013 Apr 24;78(2):256-68. doi: 10.1016/j.neuron.2013.02.026. Epub 2013 Apr 4. PMID: 23562540