Kauwe, John

Biology

Email: 7rh|~lGi€|5lk|  (Email Form)

Website: http://kauwelab.byu.edu

4146  LSB
Provo, UT 84602
(801) 422-2993

Associate Professor

Curriculum Vitae

 Honors and Awards
  • Brigham Young University : 2015 BYU Sponsored Research Award
 Courses Taught

Summer 2017
  • BIO 494R: Mentored Research Section 015
  • BIO 559R: Adv Topics Ecology & Evolution Section 001
Spring 2017
  • BIO 559R: Adv Topics Ecology & Evolution Section 001, 007
  • IAS 399R: Academic Internship Section 007
Winter 2017
  • BIO 130: Biology Section 001, 002, 003, 004
  • BIO 494R: Mentored Research Section 010
  • BIO 559R: Adv Topics Ecology & Evolution Section 001
  • BIO 699R: Master's Thesis Section 007
  • IAS 369R: International Internship Prep Section 004
Fall 2016
  • BIO 494R: Mentored Research Section 011
  • BIO 559R: Adv Topics Ecology & Evolution Section 001
  • NEURO 449R: Neuro Research Experience Section 025

Selected Publications

Journal Articles

Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, et al. 2017. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nature genetics. 49(9):1373-1384. <website>

Huang KL, Marcora E, Pimenova AA, Di Narzo AF, Kapoor M, Jin SC, 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. Nature neuroscience. 20:1052-1061. <website>

Anand S, Barnes JM, Young SA, Garcia DM, Tolley HD, Kauwe JS, Graves SW. 2017. Discovery and confirmation of diagnostic serum lipid biomarkers for Alzheimer's disease using direct infusion mass spectrometry. Journal of Alzheimer's Disease. 59(2017):277-290. <website>

Matyi J, Tschanz JT, Rattinger GB, Sanders C, Vernon EK, Corcoran C, Kauwe JS, Buhusi M. 2017. Sex Differences in Risk for Alzheimer's Disease Related to Neurotrophin Gene Polymorphisms: The Cache County Memory Study. The journals of gerontology. Series A, Biological sciences and medical sciences. 1-7. <website> doi:10.1093/gerona/glx092

Parks T, Mirabel MM, Kado J, Auckland K, Nowak J, Rautanen A, Mentzer AJ, Marijon E, Jouven X, Perman ML, et al. 2017. Association between a common immunoglobulin heavy chain allele and rheumatic heart disease risk in Oceania. Nature communications. 8(14946). <website>

Allen LB, Taylor FH, Kauwe AI, Larsen T, Hippen AA, Allen M, Kauwe JS. 2017. Using the Health Belief Model to evaluate Samoan caregiver perceptions for rheumatic heart disease follow-up care. International Journal of Health Promotion and Education. 55(3):148-157. <website>

Deming Y, Li Z, Kapoor M, Harari O, Del-Aguila JL, Black K, Carrell D, Cai Y, Fernandez MV, Budde J, et al. 2017. Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. Acta neuropathologica. 133(5):839-856. <website>

Fardo DW, Katsumata Y, Kauwe JS, Deming Y, Harari O, Cruchaga C, Nelson PT. 2017. CSF protein changes associated with hippocampal sclerosis risk gene variants highlight impact of GRN/PGRN. Experimental gerontology. 90:83-89. <website>

Steele NZ, Carr JS, Bonham LW, Geier EG, Damotte V, Miller ZA, Desikan RS, Boehme KL, Mukherjee S, Crane PK, et al. 2017. Fine-mapping of the human leukocyte antigen locus as a risk factor for Alzheimer disease: A case-control study. PLoS medicine. 14(3):1-25. <website>

Mukherjee S, Russell JC, Carr DT, Burgess JD, Allen M, Serie DJ, Boehme KL, Kauwe JS, Naj AC, Fardo DW, et al. 2017. Systems biology approach to late-onset Alzheimer's disease genome-wide association study identifies novel candidate genes validated using brain expression data and Caenorhabditis elegans experiments. Alzheimer's & dementia. 2017:1-10. <website>

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. Alzheimer's & dementia. 2017:1-12. <website>

Haddick PC, 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. Journal of Alzheimer's disease. 56(3):1037-1054. <website>

Perry CE, Gale SD, Erickson LD, Wilson E, Nielsen B, Kauwe JS, Hedges DW. 2016. Seroprevalence and Serointensity of Latent Toxoplasma gondii in a Sample of Elderly Adults With and Without Alzheimer Disease. Alzheimer Disease and Associated Disorders. 30(2):123-126. <website>

Chen T, Moore TM, Ebbert MT, McVey NL, Madsen SR, Hallowell DM, Harris AM, Mackay RP, Char RE, Hancock CR, et al. 2016. Liver kinase B1 inhibits the expression of inflammation-related genes post-contraction in skeletal muscle. Journal of applied physiology. 120(8):876-888. <website>

Jun G, Ibrahim-Verbaas CA, Vronskaya M, Lambert JC, Chung J, Naj AC, Kunkle BW, Wang LS, Bis JC, Bellenguez C, et al. 2016. A novel Alzheimer disease locus located near the gene encoding tau protein. Molecular Psychiatry. 21:108-117. <website>

Deming Y, Xia J, Cai Y, Lord J, Holmans P, Bertelsen S, Holtzman D, Morris JC, Bales K, Pickering EH, et al. 2016. A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin. Neurobiology of Aging. 37:208.e1-208.e9. <website>

Sassi C, Nalls MA, Ridge PG, Gibbs R, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, et al. 2016. ABCA7 p. G215S as potential protective factor for Alzheimer’s disease. Neurobiology of Aging. 46:235.e1–235.e9. <website>

Ridge PG, Hoyt KB, Boehme K, Mukherjee S, Crane PK, Haines JL, Mayeux R, Farrer LA, Pericak-Vance MA, Schellenberg GD, et al. 2016. Assessment of the genetic variance of late-onset Alzheimer’s disease. Neurobiology of aging. 41:200.e13-e200.e20. <website>

Allen GI, Amoroso N, Anghel C, Balagurusamy V, Bare CJ, Beaton D, Bellotti R, Bennett DA, Boehme K, Boutros PC, et al. 2016. Crowdsourced estimation of cognitive decline and resilience in Alzheimer’s disease. Alzheimer's & dementia. 12:645-653. <website>

Shah D, Rohlfing F, Anand S, Johnson WE, Alvarez MT, Cobell J, King J, Young SA, Kauwe JS, Graves SW. 2016. Discovery and Subsequent Confirmation of Novel Serum Biomarkers Diagnosing Alzheimer’s Disease. Journal of Alzheimer's Disease. 49(2):317-327. <website>

Ebbert MT, Wadsworth ME, Staley LA, Hoyt KL, Pickett B, Miller J, Duce J, Kauwe JS, Ridge PG. 2016. Evaluating the necessity of PCR duplicate removal from next-generation sequencing data and a comparison of approaches. BMC bioinformatics. 17(Suppl 7):239. <website>

Kauwe JS, Goate AM. 2016. Genes for ‘Wellderly’ Life. Trends in Molecular Medicine. 22(8):637-639. <website>

Deming Y, Xia J, Cai Y, Lord J, Del-Aguila JL, Fernandez MV, Carrell D, Black K, Budde J, Ma S, et al. 2016. Genetic studies of plasma analytes identify novel potential biomarkers for several complex traits. Scientific reports. 6(18092). <website>

Staley LA, Ebbert MT, Parker S, Bailey M, Ridge PG, Goate AM, Kauwe JS. 2016. Genome-wide association study of prolactin levels in blood plasma and cerebrospinal fluid. BMC genomics. 17(Suppl 3):436. <website>

Chapuis J, Flaig A, Grenier-Boley B, Eysert F, Pottiez V, Deloison G, Vandeputte A, Ayral AM, Mendes T, Desai S, et al. 2016. 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. <website>

Sassi C, Ridge PG, Nalls MA, Gibbs R, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, et al. 2016. Influence of Coding Variability in APP-Aß Metabolism Genes in Sporadic Alzheimer’s Disease. PLoS One. 11(6). <website>

Ebbert MT, Boehme KL, Wadsworth ME, Staley LA, Initiative fD, Consortium AD, Mukherjee S, Crane PK, Ridge PG, Kauwe JS. 2016. Interaction between variants in CLU and MS4A4E modulates Alzheimer’s disease risk. Alzheimer’s & Dementia. 12:121-129. <website>

Hippen AA, Ebbert MT, Norton MC, Tschanz JT, Munger RG, Corcoran CD, Kauwe JS. 2016. Presenilin E318G variant and Alzheimer’s disease risk: the Cache County study. BMC Genomics. 17(Suppl 3). <website>

Oldoni E, Fumagalli GG, Serpente M, Fenoglio C, Scarioni M, Arighi A, Bruno G, Talarico G, Confaloni A, Piscopo P, et al. 2016. PRNP P39L Variant is a Rare Cause of Frontotemporal Dementia in Italian Population. Journal of Alzheimer's Disease. 50:353-357. <website>

Mez J, Mukherjee S, Thornton T, Fardo DW, Trittschuh E, Sutti S, Sherva R, Kauwe JS, Naj AC, Beecham GW, et al. 2016. The executive prominent/memory prominent spectrum in Alzherimer’s disease is highly heritable. Neurobiology of Aging. 14:115-121. <website>

Staley LA, Ebbert MT, Bunker D, Bailey M, Ridge PG, Goate AM, Kauwe JS. 2016. Variants in ACPP are associated with cerebrospinal fluid Prostatic Acid Phosphatase levels. BMC genomics. 17(3):439. <website>

Ebbert MT, Staley LA, Parker J, Parker S, Bailey M, Ridge PG, Goate AM, Kauwe JS. 2016. Variants in CCL16 are associated with blood plasma and cerebrospinal fluid CCL16 protein levels. BMC genomics. 17(3):437. <website>

Ostergaard SD, Mukherjee S, Sharp SJ, Proitsi P, Lotta LA, Day F, Perry BK, Walter S, Kauwe JS, Gibbons LE, et al. 2015. Associations between Potentially Modifiable Risk Factors and Alzheimer Disease: A Mendelian Randomization Study. PloS medicine. 12(6):e1001841. <website>

Ebbert MT, Ridge PG, Kauwe JS. 2015. Bridging the Gap between Statistical and Biological Epistasis in Alzheimer’s Disease. BioMed Research International. 2015. <website>

Saykin AJ, Shen L, Yao X, Kim S, Nho K, Risacher SL, Ramanan VK, Foroud TM, Faber KM, Sarwar N, et al. 2015. Genetic studies of quantitative MCI and AD phenotypes in ADNI: Progress, opportunities, and plans. Alzheimer's & Dementia. 11:792-814. <website>

Mukherjee S, Walter S, Kauwe JS, Saykin AJ, Bennett DA, Crane PK, Glymour MM. 2015. Genetically predicted body mass index and Alzheimer's disease-related phenotypes in three large samples: Mendelian randomization analyses. Alzheimer's & dementia. 11(12):1439-51. <website>

Wang LS, Naj AC, Graham RR, Crane PK, Kunkle BW, Cruchaga C, Murcia JD, Cannon-Albright L, Baldwin CT, Zetterberg H, et al. 2015. Rarity of the Alzheimer disease-protective APP A673T variant in the United States. JAMA Neurology. 72(2):209-216. <website>

Lythgoe C, Perkes A, Peterson M, Schmutz C, Leary M, Ebbert MT, Ridge PG, Norton MC, Tschanz JT, Munger RG, et al. 2015. Population-based analysis of cholesteryl ester transfer protein identifies association between I405V and cognitive decline: the Cache County Study. Neurobiology of aging. 36(1):547.e1-3. <website>

Naj AC, Jun G, Reitz C, Kunkle BW, Perry W, Park YS, Beecham GW, Rajbhandary RA, Hamilton-Nelson KL, Wang LS, et al. 2014. Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. JAMA neurology. 71(11):1394-404. <website>

Kauwe JS, 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 genetics. 10(10):e1004758. <website>

Allen M, Kachadoorian M, Quicksall Z, Zou F, Chai HS, Younkin C, Crook JE, Pankratz VS, Carrasquillo MM, Krishnan S, et al. 2014. Association of MAPT haplotypes with Alzheimer's disease risk and MAPT brain gene expression levels. Alzheimer's research & therapy. 6(39). <website>

Escott-Price V, Bellenguez C, Wang LS, Choi SH, 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. <website>

Benitez BA, Jin SC, Guerreiro R, Graham R, Lord J, Harold D, Sims R, Lambert JC, Gibbs JR, Bras J, et al. 2014. Missense variant in TREML2 protects against Alzheimer's disease. Neurobiology of aging. 35(6):1510.e19-26. <website>

Cruchaga C, Ebbert MT, Kauwe JS. 2014. Genetic discoveries in AD using CSF amyloid and tau. Curr Genet Med Rep. 2(1):23-29. <website>

Dayton P, Feilmeier M, Hirschi J, Kauwe M, Kauwe JS. 2014. Observed changes in radiographic measurements of the first ray after frontal plane rotation of the first metatarsal in a cadaveric foot model. Journal of Foot & Ankle Surgery. 53:274-278. <website>

Cao Y, Wei P, Bailey M, Kauwe JS, Maxwell TJ. 2014. A versatile omnibus test for detecting mean and variance heterogeneity. Genetic Epidemiology. 38(1):51-59. <website>

Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, et al. 2014. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature. 505(7484):550-4. <website>

Harari O, Cruchaga C, Kauwe JS, Ainscough BJ, Bales K, Pickering EH, Bertelsen S, Fagan AM, Holtzman DM, Morris JC, et al. 2014. Phosphorylated tau-Aβ42 ratio as a continuous trait for biomarker discovery for early-stage AD in multiplex immunoassay panels of cerebrospinal fluid. Biol Psychiatry. 75:723-731. <website>

Gross AL, Sherva R, Mukherjee S, Newhouse S, Kauwe JS, Munsie LM, Waterston LB, Bennett DA, Jones RN, Green RC, et al. 2014. Calibrating longitudinal cognition in Alzheimer's disease across diverse test batteries and datasets. Neuroepidemiology. 43(3-4):194-205. <website>

Ridge PG, Maxwell TJ, Foutz SJ, Bailey MH, Corcoran CD, Tschanz JT, Norton MC, Munger RG, O'Brien E, Kerber RA, et al. 2014. Mitochondrial genomic variation associated with higher mitochondrial copy number: the Cache County Study on Memory Health and Aging. BMC Bioinformatics. 15(Suppl 7):S6. <website>

Sharp AR, Ridge PG, Bailey MH, Boehme KL, Norton MC, Tschanz JT, Munger RG, Corcoran CD, Kauwe JS. 2014. Population substructure in Cache County, Utah: the Cache County study. BMC Bioinformatics. 15(Suppl 7):S8. <website>

Ebbert MT, Wadsworth ME, Boehme KL, Hoyt KL, Sharp AR, O'Fallon BD, Kauwe JS, Ridge PG. 2014. Variant Tool Chest: an improved tool to analyze and manipulate variant call format (VCF) files. BMC Bioinformatics. 15(Suppl 7):S12. <website>

Shen L, Thompson PM, Potkin SG, Bertram L, Farrer LA, Foroud TM, Green RC, Hu X, Huentelman MJ, Kim S, et al. 2014. Genetic analysis of quantitative phenotypes in AD and MCI: imaging, cognition and biomarkers. Brain Imaging and Behavior. 8:183-207. <website>

Dayton P, Kauwe M, Kauwe JS, Feilmeier M, Hirschi J. 2014. Observed Changes in First Metatarsal and Medial Cuneiform Positions after First Metatarsophalangeal Joint Arthrodesis. Journal of Foot & Ankle Surgery. 53:32-35. <website>

Ebbert MT, Ridge PG, Wilson AR, Sharp AR, Bailey M, Norton MC, Tschanz JT, Munger RG, Corcoran CD, Kauwe JS. 2014. Population-based Analysis of Alzheimer’s Disease Risk Alleles Implicates Genetic Interactions. Biological Psychiatry. 75(9):732-739. <website>

Peterson D, Munger C, Crowley J, Corcoran C, Cruchaga C, Goate AM, Norton MC, Green RC, Munger RG, Breitner JC, et al. 2014. Variants in PPP3R1 and MAPT are associated with more rapid functional decline in Alzheimer's disease: The Cache County Dementia Progression Study. Alzheimer's & Dementia. 10(3):366-371. <website>

Gonzalez Murcia JD, Schmutz C, Munger C, Perkes A, Gustin A, Peterson M, Ebbert MT, Norton MC, Tschanz JT, Munger RG, et al. 2013. Assessment of TREM2 rs75932628 association with Alzheimer's disease in a population-based sample: the Cache County Study. Neurobiology of Aging. 34(12):2889.e11-e2889.e13. <website>

Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, DeStafano AL, Bis JC, Beecham GW, Grenier-Boley B, et al. 2013. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nature genetics. 45(12):1452-8. <website>

Ridge PG, Mukherjee S, Crane PK, Kauwe JS. 2013. Alzheimer's disease: analyzing the missing heritability. PLoS One. 8(11). <website>

Kauwe JS, Ridge PG, Foster NL, Cannon-Albright LA. 2013. Strong evidence for a genetic contribution to late-onset Alzheimer’s disease mortality: a population-based study. PLoS ONE. 8(10). <website>

Ridge PG, Koop A, Maxwell TJ, Bailey MH, Swerdlow RH, Kauwe JS, Honea RA. 2013. Mitochondrial haplotypes associated with biomarkers for Alzheimer’s disease. PLoS ONE. 8(9). <website>

Ridge PG, Ebbert MT, Kauwe JS. 2013. Genetics of Alzheimer’s disease. Biomed Research International. 2013(254954). <website>

Cruchaga C, Kauwe JS, Harari O, Jin SC, Cai Y, Karch CM, Benitez BA, Jeng AT, Skorupa T, Carrell D, et al. 2013. GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. Neuron. 78(2):256-268. <website>

Houston DD, Elzinga DB, Maughan PJ, Smith SM, Kauwe JS, Evans RP, Stinger RB, Shiozawa DK. 2012. Single nucleotide polymorphism discovery in cutthroat trout subspecies using genome reduction, barcoding, and 454 pyro-sequencing. BMC Genomics. 13(724):16. <website>

Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, et al. 2012. TREM2 Variants in AD. New England Journal of Medicine. 368(2). <website>

Ridge P, Maxwell T, Corcoran C, Norton M, Tschanz J, O'Brien E, Kerber R, Cawthon R, Munger R, Kauwe JS. 2012. Mitochondrial genomic analysis of late onset Alzheimer's disease reveals protective haplogroups H6A1A/H6A1B: the Cache County Study on Memory in Aging. PLoS One. 7(9). <website>

Cruchaga C, Kauwe JS, Nowotny P, Bales K, Pickering E, Mayo K, Bertelsen S, Hinrichs A, Fagan A, Holtzman D, et al. 2012. Cerebrospinal fluid APOE levels: an endophenotype for genetic studies for Alzheimer's disease. Human Molecular Genetics. 21(20). <website>

Gerrish A, Russo G, Richards A, Moskvina V, Ivanov D, Harold D, Sims R, Abraham R, Hollingworth P, Chapman J, et al. 2012. The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. Journal of Alzheimer's disease. 28(2):377-87. <website>

Overton ET, Kauwe JS, Paul R, Tashima K, Tate DF, Patel P, Carpenter CC, Patty D, Brooks JT, Clifford DB. 2011. Performances on the CogState and Standard Neuropsychological Batteries Among HIV Patients Without Dementia. AIDS and Behavior. 15(8):1902-1909. <website>

Cruchaga C, Nowotny P, Kauwe JS, Ridge PG, Mayo K, Bertelsen S, Hinrichs A, Fagan AM, Holtzman DM, Morris JC, et al. 2011. Association and Expression Analyses with Single Nucleotide Polymorphisms in TOMM40 in Alzheimer's disease. Archives of Neurology. 68(8):1013-1019. <website>

Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V, et al. 2011. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nature genetics. 43(5):429-35. <website>

Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, Buros J, Gallins PJ, Buxbaum JD, Jarvik GP, Crane PK, et al. 2011. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nature genetics. 43(5):436-41. <website>

Kauwe JS, Cruchaga C, Karch CM, Sadler B, Lee M, Mayo K, Latu W, Su'a M, Fagan AM, Holtzman DM, et al. 2011. Fine Mapping of Genetic Variants in BIN1, CLU, CR1 and PICALM for Association with Cerebrospinal Fluid Biomarkers for Alzheimer's Disease. PLoS ONE. 6(2). <website>

Jones L, Holmans PA, Hamshere ML, Harold D, Moskvina V, Ivanov D, Pocklington A, Abraham R, Hollingworth P, Sims R, et al. 2010. Genetic Evidence Implicates the Immune System and Cholesterol Metabolism in the Aetiology of Alzheimer's Disease. PLoS ONE. 5(11):e13950. <website>

Cruchaga C, Kauwe JS, Mayo K, Spiegel N, Bertelsen S, Nowotny P, Shah AR, Abraham R, Hollingworth P, Harold D, et al. 2010. SNPs Associated with Cerebrospinal Fluid Phospho-Tau Levels Influence Rate of Decline in AD. PLoS Genetics. 6(9):e1001101. <website>

Kauwe JS, Cruchaga SB, Mayo K, Latu W, Nowotny P, Hinrichs AL, Fagan AM, Holtzman DM, Alzheimer's Disease Neuroimaging I, Goate AM. 2010. Validating Predicted Biological Effects of Alzheimer's Disease Associated SNPs Using CSF Biomarker Levels. Journal of Alzheimer's Disease. 21(3):833+842. <website>

Kauwe JS, Bertelsen S, Mayo K, Cruchaga C, Abraham R, Hollingworth P, Harold D, Owen MJ, Williams J, Lovestone S, et al. 2010. Suggestive synergy between genetic variants in TF and HFE as risk factors for AD. American Journal of Medical Genetics Part B. 153B(4):955-9. <website>

Clifford DB, Fagan AM, Holtzman DM, Morris JC, Teshome M, Shah AR, Kauwe JS. 2009. CSF biomarkers of Alzheimer disease in HIV-associated neurologic disease. Neurology. 73:1982-87. <website>

Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A, et al. 2009. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nature Genetics. 41:1088-1093. <website>

Fenoglio C, Galimberti D, Cortini F, Kauwe JS, Cruchaga C, Venturelli E, Villa C, Serpente M, Scalabrini D, Mayo K, et al. 2009. Rs5848 Variant Influences GRN mRNA Levels in Brain and Peripheral Mononuclear Cells in Patients with Alzheimer's Disease. Journal of Alzheimer's Disease. 18(3):603-612. <website>

Kauwe JS, Wang J, Mayo K, Morris JC, Fagan AM, Holtzman DM, Goate AM. 2009. Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta. Neurogenetics. 10(1):13-17. <website>

Kauwe JS, Wang J, Chakraverty S, Goate AM, Henao-Martinez AF. 2008. Novel presenilin 1 variant (P117A) causing Alzheimer's disease in the fourth decade of life. Neuroscience Letters. 438:257-259. <website>

Kauwe JS, Cruchaga C, Mayo K, Fenoglio C, Bertelsen S, Nowotny P, Galimberti D, Scarpini E, Morris JC, Fagan AM, et al. 2008. Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition. Proceedings of the National Academy of Sciences of the United States of America. 105:8050-8054. <website>

Mukherjee O, Wang J, Gitcho M, Chakraverty S, Taylor-Reinwald L, Shears S, Kauwe JS, Norton J, Levitch D, Bigio EH, et al. 2008. Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia. Human Mutation. 29:512-521. <website>

Hu Y, Hosseini A, Kauwe JS, Gross J, Cairns NJ, Goate AM, Fagan AM, Townsend RR, Holtzman DM. 2007. Identification and validation of novel CSF biomarkers for early stages of Alzheimer's disease. Proteomics Clin. Appl. 1(11):1373-84. <website>

Nowotny P, Simcock X, Bertelsen S, Hinrichs AL, Kauwe JS, Mayo K, Smemo S, Morris JC, Goate A. 2007. Association studies testing for risk for late-onset Alzheimer's disease with common variants in the beta-amyloid precursor protein (APP). American journal of medical genetics. Part B, Neuropsychiatric genetics. 144B(4):469-74. <website>

Kauwe JS, Jacquart S, Chakraverty S, Wang J, Mayo K, Fagan AM, Holtzman DM, Morris JC, Goate AM. 2007. Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation. Annals of Neurology. 61:446-453. <website>

Nowotny P, Bertelsen S, Hinrichs AL, Kauwe JS, Mayo K, Jacquart S, Morris JC, Goate A. 2007. Association studies between common variants in prolyl isomerase Pin1 and the risk for late-onset Alzheimer's disease. Neuroscience letters. 419(1):15-7. <website>

Wahrle SE, Shah AR, Fagan AM, Smemo S, Kauwe JS, Grupe A, Hinrichs A, Mayo K, Jiang H, Thal LJ, et al. 2007. Apolipoprotein E levels in cerebrospinal fluid and the effects of ABCA1 polymorphisms. Molecular neurodegeneration. 2:7. <website>

Mukherjee O, Kauwe JS, Mayo K, Morris JC, Goate AM. 2007. Haplotype-based association analysis of the MAPT locus in late onset Alzheimer's disease. BMC genetics. 8:3. <website>

Li Y, Grupe A, Rowland C, Nowotny P, Kauwe JS, Smemo S, Hinrichs A, Tacey K, Toombs TA, Kwok S, et al. 2006. DAPK1 variants are associated with Alzheimer's disease and allele-specific expression. Human molecular genetics. 15(17):2560-8. <website>

Mukherjee O, Pastor P, Cairns NJ, Chakraverty S, Kauwe JS, Shears S, Behrens MI, Budde J, Hinrichs AL, Norton J, et al. 2006. HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. Annals of neurology. 60(3):314-22. <website>

Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TA, Cherny S, Doil L, et al. 2006. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. American journal of human genetics. 78(1):78-88. <website>

Smemo S, Nowotny P, Hinrichs AL, Kauwe JS, Cherny S, Erickson K, Myers AJ, Kaleem M, Marlowe L, Gibson AM, et al. 2006. Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease. Annals of neurology. 59(1):21-6. <website>

Suarez BK, Taylor C, Bertelsen S, Bierut LJ, Dunn G, Jin CH, Kauwe JS, Paterson AD, Hinrichs AL. 2005. An analysis of identical single-nucleotide polymorphisms genotyped by two different platforms. BMC genetics. 6 Suppl 1:S152. <website>

Dunn G, Hinrichs AL, Bertelsen S, Jin CH, Kauwe JS, Suarez BK, Bierut LJ. 2005. Microsatellites versus single-nucleotide polymorphisms in linkage analysis for quantitative and qualitative measures. BMC genetics. 6 Suppl 1:S122. <website>

Hinrichs AL, Bertelsen S, Bierut LJ, Dunn G, Jin CH, Kauwe JS, Suarez BK. 2005. Multipoint identity-by-descent computations for single-point polymorphism and microsatellite maps. BMC genetics. 6 Suppl 1:S34. <website>

Kauwe JS, Bertelsen S, Bierut LJ, Dunn G, Hinrichs AL, Jin CH, Suarez BK. 2005. The efficacy of short tandem repeat polymorphisms versus single-nucleotide polymorphisms for resolving population structure. BMC genetics. 6 Suppl 1:S84. <website>

Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell T, Holmans P, Hamshere M, Turic D, Jehu L, Hollingworth P, et al. 2005. Association studies between risk for late-onset Alzheimer's disease and variants in insulin degrading enzyme. American journal of medical genetics. Part B, Neuropsychiatric genetics. 136B(1):62-8. <website>

Li Y, Nowotny P, Holmans P, Smemo S, Kauwe JS, Hinrichs AL, Tacey K, Doil L, van Luchene R, Garcia V, et al. 2004. Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family. Proceedings of the National Academy of Sciences of the United States of America. 101(44):15688-93. <website>

Kauwe JS, Shiozawa DK, Evans RP. 2004. Phylogeographic and nested clade analysis of the stonefly Pteronarcys californica (Plecoptera) in the Western United States. Journal of the North American Benthological Society. 23(4):824-838. <website>

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