Alan E. Renton

2024

Comparison of tau spread in people with Down syndrome versus autosomal-dominant Alzheimer's disease: a cross-sectional study

Alzheimer's Biomarker Consortium-Down Syndrome, Dominantly Inherited Alzheimer Network, Alzheimer's Biomarker Consortium-Down Syndrome & Dominantly Inherited Alzheimer Network, May 2024, In: The Lancet Neurology. 23, 5, p. 500-510 11 p.

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Deconstructing pathological tau by biological process in early stages of Alzheimer disease: a method for quantifying tau spatial spread in neuroimaging

the Dominantly Inherited Alzheimer Network (DIAN) Investigators, May 2024, In: eBioMedicine. 103, 105080.

Research output: Contribution to journal › Article › peer-review

Open Access

Generation of a gene-corrected human isogenic iPSC line from an Alzheimer's disease iPSC line carrying the PSEN1 H163R mutation

Dominantly Inherited Alzheimer Network (DIAN), Sep 2024, In: Stem Cell Research. 79, 103495.

Research output: Contribution to journal › Article › peer-review

Open Access

Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes

PSP Genetics Study Group, Dec 2024, In: Nature Communications. 15, 1, 7880.

Research output: Contribution to journal › Article › peer-review

Open Access

Human whole-exome genotype data for Alzheimer’s disease

Leung, Y. Y., Naj, A. C., Chou, Y. F., Valladares, O., Schmidt, M., Hamilton-Nelson, K., Wheeler, N., Lin, H., Gangadharan, P., Qu, L., Clark, K., Kuzma, A. B., Lee, W. P., Cantwell, L., Nicaretta, H., van der Lee, S., English, A., Kalra, D., Muzny, D. & Skinner, E. & 121 others, Doddapeneni, H., Dinh, H., Hu, J., Santibanez, J., Jayaseelan, J., Worley, K., Gibbs, R. A., Lee, S., Dugan-Perez, S., Korchina, V., Nasser, W., Liu, X., Han, Y., Zhu, Y., Liu, Y., Khan, Z., Zhu, C., Sun, F. J., Jun, G. R., Chung, J., Farrell, J., Zhang, X., Banks, E., Gupta, N., Gabriel, S., Butkiewicz, M., Benchek, P., Smieszek, S., Song, Y., Vardarajan, B., Reitz, C., Reyes-Dumeyer, D., Tosto, G., De Jager, P. L., Barral, S., Ma, Y., Beiser, A., Liu, C. T., Dupuis, J., Lunetta, K., Cupples, L. A., Choi, S. H., Chen, Y., Mez, J., Vanderspek, A., Ikram, M. A., Ahmad, S., Faber, K., Foroud, T., Mlynarski, E., Schmidt, H., Schmidt, R., Kunkle, B., Rajabli, F., Beecham, G., Vance, J. M., Adams, L. D., Cuccaro, M., Mena, P., Booth, B. M., Renton, A., Goate, A., Marcora, E., Stine, A., Feolo, M., Launer, L. J., Koboldt, D. C., Wilson, R. K., van Duijn, C., Amin, N., Kapoor, M., Salerno, W., Bennett, D. A., Xia, L. C., Malamon, J., Mosley, T. H., Satizabal, C., Jan Bressler, B., Jian, X., Nato, A. Q., Horimoto, A. R., Wang, B., Psaty, B., Witten, D., Tsuang, D., Blue, E., Wijsman, E., Sohi, H., Nguyen, H., Bis, J. C., Rice, K., Brown, L., Dorschner, M., Saad, M., Navas, P., Nafikov, R., Thornton, T., Day, T., Haut, J., Sha, J., Zhang, N., Iqbal, T., Zhao, Y., Below, J. E., Larson, D. E., Appelbaum, E., Waligorski, J., Antonacci-Fulton, L., Fulton, R. S., Haines, J., Farrer, L., Seshadri, S., Brkanac, Z., Cruchaga, C., Pericak-Vance, M., Mayeux, R. P., Bush, W. S., Destefano, A., Martin, E., Schellenberg, G. D. & Wang, L. S., Dec 2024, In: Nature Communications. 15, 1, 684.

Research output: Contribution to journal › Article › peer-review

Open Access

Investigation of sex differences in mutation carriers of the Dominantly Inherited Alzheimer Network

Wagemann, O., Li, Y., Hassenstab, J., Aschenbrenner, A. J., McKay, N. S., Gordon, B. A., Benzinger, T. L. S., Xiong, C., Cruchaga, C., Renton, A. E., Perrin, R. J., Berman, S. B., Chhatwal, J. P., Farlow, M. R., Day, G. S., Ikeuchi, T., Jucker, M., Lopera, F., Mori, H. & Noble, J. M. & 8 others, Sánchez-Valle, R., Schofield, P. R., Morris, J. C., Daniels, A., Levin, J., Bateman, R. J., McDade, E. & Llibre-Guerra, J. J., Jan 2024, In: Alzheimer's and Dementia. 20, 1, p. 47-62 16 p.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

Investigation of the genetic aetiology of Lewy body diseases with and without dementia

International Lewy Body Dementia Genomics Consortium, 2024, In: Brain Communications. 6, 4, fcae190.

Research output: Contribution to journal › Article › peer-review

Open Access

Social determinants of health but not global genetic ancestry predict dementia prevalence in Latin America

Llibre-Guerra, J. J., Jiang, M., Acosta, I., Sosa, A. L., Acosta, D., Jimenez-Velasquez, I. Z., Guerra, M., Salas, A., Rodriguez Salgado, A. M., Llibre-Guerra, J. C., Sánchez, N. D., Prina, M., Renton, A., Albanese, E., Yokoyama, J. S. & Llibre Rodriguez, J. J., Jul 2024, In: Alzheimer's and Dementia. 20, 7, p. 4828-4840 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

α-Synuclein seed amplification assay detects Lewy body co-pathology in autosomal dominant Alzheimer's disease late in the disease course and dependent on Lewy pathology burden

Dominantly Inherited Alzheimer Network, Jun 2024, In: Alzheimer's and Dementia. 20, 6, p. 4351-4365 15 p.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

γ-Secretase activity, clinical features, and biomarkers of autosomal dominant Alzheimer's disease: cross-sectional and longitudinal analysis of the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS)

Dominantly Inherited Alzheimer Network, Sep 2024, In: The Lancet Neurology. 23, 9, p. 913-924 12 p.

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

2023

Brain network decoupling with increased serum neurofilament and reduced cognitive function in Alzheimer’s disease

Dominantly Inherited Alzheimer Network, 1 Jul 2023, In: Brain. 146, 7, p. 2928-2943 16 p.

Research output: Contribution to journal › Article › peer-review

Open Access

5 Scopus citations

Cerebrospinal fluid proteomics define the natural history of autosomal dominant Alzheimer’s disease

the Dominantly Inherited Alzheimer Network, Aug 2023, In: Nature Medicine. 29, 8, p. 1979-1988 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

31 Scopus citations

Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study

Alzheimer's Biomarker Consortium-Down Syndrome & Dominantly Inherited Alzheimer Network, Jan 2023, In: The Lancet Neurology. 22, 1, p. 55-65 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

15 Scopus citations

Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred

Cochran, J. N., Acosta-Uribe, J., Esposito, B. T., Madrigal, L., Aguillón, D., Giraldo, M. M., Taylor, J. W., Bradley, J., Fulton-Howard, B., Andrews, S. J., Acosta-Baena, N., Alzate, D., Garcia, G. P., Piedrahita, F., Lopez, H. E., Anderson, A. G., Rodriguez-Nunez, I., Roberts, K., Dominantly, I. & Absher, D. & 10 others, Myers, R. M., Beecham, G. W., Reitz, C., Rizzardi, L. F., Fernandez, M. V., Goate, A. M., Cruchaga, C., Renton, A. E., Lopera, F. & Kosik, K. S., Sep 2023, In: Alzheimer's and Dementia. 19, 9, p. 3835-3847 13 p.

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Genome-Wide Association Study of Cardiovascular Resilience Identifies Protective Variation in the CETP Gene

Yu, C., Bakshi, A., Watts, G. F., Renton, A. E., Fulton-Howard, B., Goate, A. M., Natarajan, P., Chasman, D. I., Robman, L., Woods, R. L., Guymer, R., Wolfe, R., Thao, L. T. P., McNeil, J. J., Tonkin, A. M., Nicholls, S. J. & Lacaze, P., Nov 2023, In: Journal of the American Heart Association. 12, 21, e031459.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias

PROSPECT Consortium, The American Genome Center, International LBD Genomics Consortium & International ALS/FTD Consortium, 14 Jun 2023, In: Cell Genomics. 3, 6, 100316.

Research output: Contribution to journal › Article › peer-review

Open Access

7 Scopus citations

Location of pathogenic variants in PSEN1 impacts progression of cognitive, clinical, and neurodegenerative measures in autosomal-dominant Alzheimer's disease

Schultz, S. A., Shirzadi, Z., Schultz, A. P., Liu, L., Fitzpatrick, C. D., McDade, E., Barthelemy, N. R., Renton, A., Esposito, B., Joseph-Mathurin, N., Cruchaga, C., Chen, C. D., Goate, A., Allegri, R. F., Benzinger, T. L. S., Berman, S., Chui, H. C., Fagan, A. M., Farlow, M. R. & Fox, N. C. & 27 others, Gordon, B. A., Day, G. S., Graff-Radford, N. R., Hassenstab, J. J., Hanseeuw, B. J., Hofmann, A., Jack, C. R., Jucker, M., Karch, C. M., Koeppe, R. A., Lee, J. H., Levey, A. I., Levin, J., Martins, R. N., Mori, H., Morris, J. C., Noble, J., Perrin, R. J., Rosa-Neto, P., Salloway, S. P., Sanchez-Valle, R., Schofield, P. R., Xiong, C., Johnson, K. A., Bateman, R. J., Sperling, R. A. & Chhatwal, J. P., Aug 2023, In: Aging Cell. 22, 8, e13871.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

Polygenic risk score penetrance & recurrence risk in familial Alzheimer disease

Qiao, M., Lee, A. J., Reyes-Dumeyer, D., Tosto, G., Faber, K., Goate, A., Renton, A., Chao, M., Boeve, B., Cruchaga, C., Pericak-Vance, M., Haines, J. L., Rosenberg, R., Tsuang, D., Sweet, R. A., Bennett, D. A., Wilson, R. S., Foroud, T., Mayeux, R. & Vardarajan, B. N., May 2023, In: Annals of Clinical and Translational Neurology. 10, 5, p. 744-756 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

Validation of newly derived polygenic risk scores for dementia in a prospective study of older individuals

Yu, C., Ryan, J., Orchard, S. G., Robb, C., Woods, R. L., Wolfe, R., Renton, A. E., Goate, A. M., Brodtmann, A., Shah, R. C., Chong, T. T. J., Sheets, K., Kyndt, C., Sood, A., Storey, E., Murray, A. M., McNeil, J. J. & Lacaze, P., Dec 2023, In: Alzheimer's and Dementia. 19, 12, p. 5333-5342 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

2022

17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson’s disease are associated with LRRC37A/2 expression in astrocytes

International Parkinson’s Disease Genomics Consortium (IPDGC), Dec 2022, In: Molecular Neurodegeneration. 17, 1, 48.

Research output: Contribution to journal › Article › peer-review

Open Access

16 Scopus citations

Discovery and validation of dominantly inherited Alzheimer’s disease mutations in populations from Latin America

for the Dominantly Inherited Alzheimer Network, Dec 2022, In: Alzheimer's Research and Therapy. 14, 1, 108.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Scopus citations

Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups

Kaivola, K., Shah, Z., Chia, R., Black, S. E., Gan-Or, Z., Keith, J., Masellis, M., Rogaeva, E., Brice, A., Lesage, S., Xiromerisiou, G., Calvo, A., Canosa, A., Chio, A., Logroscino, G., Mora, G., Krüger, R., May, P., Alcolea, D. & Clarimon, J. & 66 others, Fortea, J., Gonzalez-Aramburu, I., Infante, J., Lage, C., Lleó, A., Pastor, P., Sanchez-Juan, P., Brett, F., Aarsland, D., Al-Sarraj, S., Attems, J., Gentleman, S., Hardy, J. A., Hodges, A. K., Love, S., Mckeith, I. G., Morris, C. M., Morris, H. R., Palmer, L., Pickering-Brown, S., Ryten, M., Thomas, A. J., Troakes, C., Albert, M. S., Barrett, M. J., Beach, T. G., Bekris, L. M., Bennett, D. A., Boeve, B. F., Dalgard, C. L., Dawson, T. M., Dickson, D. W., Faber, K., Ferman, T., Ferrucci, L., Flanagan, M. E., Foroud, T. M., Ghetti, B., Gibbs, J. R., Goate, A., Goldstein, D. S., Graff-Radford, N. R., Kaufmann, H., Kukull, W. A., Leverenz, J. B., Mao, Q., Masliah, E., Monuki, E., Newell, K. L., Palma, J. A., Pletnikova, O., Renton, A. E., Resnick, S. M., Rosenthal, L. S., Ross, O. A., Scherzer, C. R., Serrano, G. E., Shakkottai, V. G., Sidransky, E., Tanaka, T., Topol, E., Torkamani, A., Troncoso, J. C., Woltjer, R., Wszolek, Z. K. & Scholz, S. W., 1 May 2022, In: Brain. 145, 5, p. 1757-1762 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

13 Scopus citations

Genome-wide association study and functional validation implicates JADE1 in tauopathy

Farrell, K., Kim, S. H., Han, N., Iida, M. A., Gonzalez, E. M., Otero-Garcia, M., Walker, J. M., Richardson, T. E., Renton, A. E., Andrews, S. J., Fulton-Howard, B., Humphrey, J., Vialle, R. A., Bowles, K. R., de Paiva Lopes, K., Whitney, K., Dangoor, D. K., Walsh, H., Marcora, E. & Hefti, M. M. & 69 others, Casella, A., Sissoko, C. T., Kapoor, M., Novikova, G., Udine, E., Wong, G., Tang, W., Bhangale, T., Hunkapiller, J., Ayalon, G., Graham, R. R., Cherry, J. D., Cortes, E. P., Borukov, V. Y., McKee, A. C., Stein, T. D., Vonsattel, J. P., Teich, A. F., Gearing, M., Glass, J., Troncoso, J. C., Frosch, M. P., Hyman, B. T., Dickson, D. W., Murray, M. E., Attems, J., Flanagan, M. E., Mao, Q., Mesulam, M. M., Weintraub, S., Woltjer, R. L., Pham, T., Kofler, J., Schneider, J. A., Yu, L., Purohit, D. P., Haroutunian, V., Hof, P. R., Gandy, S., Sano, M., Beach, T. G., Poon, W., Kawas, C. H., Corrada, M. M., Rissman, R. A., Metcalf, J., Shuldberg, S., Salehi, B., Nelson, P. T., Trojanowski, J. Q., Lee, E. B., Wolk, D. A., McMillan, C. T., Keene, C. D., Latimer, C. S., Montine, T. J., Kovacs, G. G., Lutz, M. I., Fischer, P., Perrin, R. J., Cairns, N. J., Franklin, E. E., Cohen, H. T., Raj, T., Cobos, I., Frost, B., Goate, A., White, C. L. & Crary, J. F., Jan 2022, In: Acta Neuropathologica. 143, 1, p. 33-53 21 p.

Research output: Contribution to journal › Article › peer-review

Open Access

17 Scopus citations

Parenchymal border macrophages regulate the flow dynamics of the cerebrospinal fluid

Dominantly Inherited Alzheimer Network, 17 Nov 2022, In: Nature. 611, 7936, p. 585-593 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

99 Scopus citations

Predicting brain age from functional connectivity in symptomatic and preclinical Alzheimer disease

for the Dominantly Inherited Alzheimer Network, 1 Aug 2022, In: NeuroImage. 256, 119228.

Research output: Contribution to journal › Article › peer-review

Open Access

24 Scopus citations

Soluble TREM2 in CSF and its association with other biomarkers and cognition in autosomal-dominant Alzheimer's disease: a longitudinal observational study

Dominantly Inherited Alzheimer Network, Apr 2022, In: The Lancet Neurology. 21, 4, p. 329-341 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

89 Scopus citations

The National Institute on Aging Late-Onset Alzheimer's Disease Family Based Study: A resource for genetic discovery

Reyes-Dumeyer, D., Faber, K., Vardarajan, B., Goate, A., Renton, A., Chao, M., Boeve, B., Cruchaga, C., Pericak-Vance, M., Haines, J. L., Rosenberg, R., Tsuang, D., Sweet, R. A., Bennett, D. A., Wilson, R. S., Foroud, T. & Mayeux, R., Oct 2022, In: Alzheimer's and Dementia. 18, 10, p. 1889-1897 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

8 Scopus citations

Variant-dependent heterogeneity in amyloid β burden in autosomal dominant Alzheimer's disease: cross-sectional and longitudinal analyses of an observational study

Dominantly Inherited Alzheimer's Network Investigators, Feb 2022, In: The Lancet Neurology. 21, 2, p. 140-152 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

42 Scopus citations

2021

Accelerated functional brain aging in pre-clinical familial Alzheimer’s disease

Alzheimer’s Disease Neuroimaging Initiative (ADNI), Dominantly Inherited Alzheimer Network (DIAN) Study Group & Pre-symptomatic Evaluation of Experimental or Novel Treatments for Alzheimer’s Disease (PREVENT-AD) Research Group, Dec 2021, In: Nature Communications. 12, 1, 5346.

Research output: Contribution to journal › Article › peer-review

Open Access

45 Scopus citations

Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

Johnson, J. O., Chia, R., Miller, D. E., Li, R., Kumaran, R., Abramzon, Y., Alahmady, N., Renton, A. E., Topp, S. D., Gibbs, J. R., Cookson, M. R., Sabir, M. S., Dalgard, C. L., Troakes, C., Jones, A. R., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Ticozzi, N. & Silani, V. & 268 others, Gellera, C., Blair, I. P., Dobson-Stone, C., Kwok, J. B., Bonkowski, E. S., Palvadeau, R., Tienari, P. J., Morrison, K. E., Shaw, P. J., Al-Chalabi, A., Brown, R. H., Calvo, A., Mora, G., Al-Saif, H., Gotkine, M., Leigh, F., Chang, I. J., Perlman, S. J., Glass, I., Scott, A. I., Shaw, C. E., Basak, A. N., Landers, J. E., Chiò, A., Crawford, T. O., Smith, B. N., Traynor, B. J., Smith, B. N., Fallini, C., Gkazi, A. S., Topp, S. D., Scotter, E. L., Kenna, K. P., Keagle, P., Tiloca, C., Vance, C., Troakes, C., Colombrita, C., King, A., Pensato, V., Castellotti, B., Baas, F., Ten Asbroek, A. L. M. A., McKenna-Yasek, D., McLaughlin, R. L., Polak, M., Asress, S., Esteban-Pérez, J., Stevic, Z., D'Alfonso, S., Mazzini, L., Comi, G. P., Del Bo, R., Ceroni, M., Gagliardi, S., Querin, G., Bertolin, C., Van Rheenen, W., Rademakers, R., Van Blitterswijk, M., Lauria, G., Duga, S., Corti, S., Cereda, C., Corrado, L., Sorarù, G., Williams, K. L., Nicholson, G. A., Blair, I. P., Leblond-Manry, C., Rouleau, G. A., Hardiman, O., Morrison, K. E., Veldink, J. H., Van Den Berg, L. H., Pall, H., Turner, M. R., Talbot, K., Taroni, F., García-Redondo, A., Wu, Z., Glass, J. D., Gellera, C., Ratti, A., Brown, R. H., Landers, J. E., Dalgard, C. L., Adeleye, A., Soltis, A. R., Alba, C., Viollet, C., Bacikova, D., Hupalo, D. N., Sukumar, G., Pollard, H. B., Wilkerson, M. D., Martinez, E. M. G., Abramzon, Y., Ahmed, S., Arepalli, S., Baloh, R. H., Bowser, R., Brady, C. B., Brice, A., Broach, J., Campbell, R. H., Camu, W., Cooper-Knock, J., Ding, J., Drepper, C., Drory, V. E., Dunckley, T. L., Eicher, J. D., England, B. K., Faghri, F., Feldman, E., Floeter, M. K., Fratta, P., Geiger, J. T., Gerhard, G., Gibbs, J. R., Gibson, S. B., Glass, J. D., Hardy, J., Harms, M. B., Heiman-Patterson, T. D., Hernandez, D. G., Jansson, L., Kirby, J., Kowall, N. W., Laaksovirta, H., Landeck, N., Landi, F., Le Ber, I., Lumbroso, S., Macgowan, D. J. L., Maragakis, N. J., Mouzat, K., Murphy, N. A., Myllykangas, L., Nalls, M. A., Orrell, R. W., Ostrow, L. W., Pamphlett, R., Pickering-Brown, S., Pioro, E. P., Pletnikova, O., Pliner, H. A., Pulst, S. M., Ravits, J. M., Renton, A. E., Rivera, A., Robberecht, W., Rogaeva, E., Rollinson, S., Rothstein, J. D., Scholz, S. W., Sendtner, M., Sidle, K. C., Simmons, Z., Singleton, A. B., Smith, N., Stone, D. J., Tienari, P. J., Troncoso, J. C., Valori, M., Van Damme, P., Van Deerlin, V. M., Van Den Bosch, L., Zinman, L., Landers, J. E., Chiò, A., Traynor, B. J., Angelocola, S. M., Ausiello, F. P., Barberis, M., Bartolomei, I., Battistini, S., Bersano, E., Bisogni, G., Borghero, G., Brunetti, M., Cabona, C., Calvo, A., Canale, F., Canosa, A., Cantisani, T. A., Capasso, M., Caponnetto, C., Cardinali, P., Carrera, P., Casale, F., Chiò, A., Colletti, T., Conforti, F. L., Conte, A., Conti, E., Corbo, M., Cuccu, S., Dalla Bella, E., D'Errico, E., Demarco, G., Dubbioso, R., Ferrarese, C., Ferraro, P. M., Filippi, M., Fini, N., Floris, G., Fuda, G., Gallone, S., Gianferrari, G., Giannini, F., Grassano, M., Greco, L., Iazzolino, B., Introna, A., La Bella, V., Lattante, S., Liguori, R., Logroscino, G., Logullo, F. O., Lunetta, C., Mandich, P., Mandrioli, J., Manera, U., Manganelli, F., Marangi, G., Marinou, K., Marrosu, M. G., Martinelli, I., Messina, S., Moglia, C., Mosca, L., Murru, M. R., Origone, P., Passaniti, C., Petrelli, C., Petrucci, A., Pozzi, S., Pugliatti, M., Quattrini, A., Ricci, C., Riolo, G., Riva, N., Russo, M., Sabatelli, M., Salamone, P., Salivetto, M., Salvi, F., Santarelli, M., Sbaiz, L., Sideri, R., Simone, I., Simonini, C., Spataro, R., Tanel, R., Tedeschi, G., Ticca, A., Torriello, A., Tranquilli, S., Tremolizzo, L., Trojsi, F., Vasta, R., Vacchiano, V., Vita, G., Volanti, P., Zollino, M. & Zucchi, E., 1 Oct 2021, In: JAMA Neurology. 78, 10, p. 1236-1248 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

48 Scopus citations

Effect of APOE and a polygenic risk score on incident dementia and cognitive decline in a healthy older population

Riaz, M., Huq, A., Ryan, J., Orchard, S. G., Tiller, J., Lockery, J., Woods, R. L., Wolfe, R., Renton, A. E., Goate, A. M., Sebra, R., Schadt, E., Brodtmann, A., Shah, R. C., Storey, E., Murray, A. M., McNeil, J. J. & Lacaze, P., Jun 2021, In: Aging Cell. 20, 6, e13384.

Research output: Contribution to journal › Article › peer-review

Open Access

19 Scopus citations

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

The American Genome Center, Mar 2021, In: Nature Genetics. 53, 3, p. 294-303 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

187 Scopus citations

Large-scale sequencing studies expand the known genetic architecture of Alzheimer's disease

The Alzheimer's Disease Sequencing Project, 2021, In: Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. 13, 1, e12255.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

The PROSPECT Consortium, The American Genome Center (TAGC), The FALS Sequencing Consortium, The Genomics England Research Consortium, The International ALS/FTD Genomics Consortium (iAFGC), The International FTD Genetics Consortium (IFGC), The International LBD Genomics Consortium (iLBDGC), The NYGC ALS Consortium & the University of Maryland Brain and Tissue Bank and NIH NeuroBioBank, 3 Feb 2021, In: Neuron. 109, 3, p. 448-460.e4

Research output: Contribution to journal › Article › peer-review

Open Access

63 Scopus citations

Polygenic score modifies risk for Alzheimer's disease in APOE ε4 homozygotes at phenotypic extremes

Alzheimer's Disease Genetics Consortium, 2021, In: Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. 13, 1, e12226.

Research output: Contribution to journal › Article › peer-review

Open Access

11 Scopus citations

2020

A quantitative trait rare variant nonparametric linkage method with application to age-at-onset of Alzheimer’s disease

Zhao, L., Zhang, Z., Rodriguez, S. M. B., Vardarajan, B. N., Renton, A. E., Goate, A. M., Mayeux, R., Wang, G. T. & Leal, S. M., Dec 2020, In: European Journal of Human Genetics. 28, 12, p. 1734-1742 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

A soluble phosphorylated tau signature links tau, amyloid and the evolution of stages of dominantly inherited Alzheimer’s disease

the Dominantly Inherited Alzheimer Network, 1 Mar 2020, In: Nature Medicine. 26, 3, p. 398-407 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

365 Scopus citations

The innate immunity protein IFITM3 modulates γ-secretase in Alzheimer’s disease

Hur, J. Y., Frost, G. R., Wu, X., Crump, C., Pan, S. J., Wong, E., Barros, M., Li, T., Nie, P., Zhai, Y., Wang, J. C., Tcw, J., Guo, L., McKenzie, A., Ming, C., Zhou, X., Wang, M., Sagi, Y., Renton, A. E. & Esposito, B. T. & 11 others, Kim, Y., Sadleir, K. R., Trinh, I., Rissman, R. A., Vassar, R., Zhang, B., Johnson, D. S., Masliah, E., Greengard, P., Goate, A. & Li, Y. M., 29 Oct 2020, In: Nature. 586, 7831, p. 735-740 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

213 Scopus citations

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

Alzheimer’s Disease Sequencing Project, 1 Aug 2020, In: Molecular Psychiatry. 25, 8, p. 1859-1875 17 p.

Research output: Contribution to journal › Article › peer-review

Open Access

160 Scopus citations

Whole genome sequencing identifies loci specifically associated with thoracic aortic wall defects and abdominal aortic aneurysms in patients with European ancestry

Miner, G. H., Renton, A. E., Taubenfeld, E., Tadros, R. O., Marcora, E., Lookstein, R. A., Faries, P. L. & Marin, M. L., Jan 2020, In: JVS-Vascular Science. 1, p. 233-245 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

2019

A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease

Alzheimer's Disease Sequencing Project, Mar 2019, In: Alzheimer's and Dementia. 15, 3, p. 441-452 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

29 Scopus citations

A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data

Zhao, L., He, Z., Zhang, D., Wang, G. T., Renton, A. E., Vardarajan, B. N., Nothnagel, M., Goate, A. M., Mayeux, R. & Leal, S. M., 3 Oct 2019, In: American Journal of Human Genetics. 105, 4, p. 822-835 14 p.

Research output: Contribution to journal › Article › peer-review

Open Access

15 Scopus citations

C9orf72 hexanucleotide repeat length in older population: normal variation and effects on cognition

Kaivola, K., Kiviharju, A., Jansson, L., Rantalainen, V., Eriksson, J. G., Strandberg, T. E., Laaksovirta, H., Renton, A. E., Traynor, B. J., Myllykangas, L. & Tienari, P. J., Dec 2019, In: Neurobiology of Aging. 84, p. 242.e7-242.e12

Research output: Contribution to journal › Article › peer-review

Open Access

14 Scopus citations

Empirical design of a variant quality control pipeline for whole genome sequencing data using replicate discordance

Adelson, R. P., Renton, A. E., Li, W., Barzilai, N., Atzmon, G., Goate, A. M., Davies, P. & Freudenberg-Hua, Y., 1 Dec 2019, In: Scientific Reports. 9, 1, 16156.

Research output: Contribution to journal › Article › peer-review

Open Access

10 Scopus citations

Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

The ITALSGEN Consortium & The International ALS Genomics Consortium, 1 Apr 2019, In: Annals of Neurology. 85, 4, p. 470-481 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

115 Scopus citations

2018

Functional annotation of genomic variants in studies of late-onset Alzheimer's disease

Butkiewicz, M., Blue, E. E., Leung, Y. Y., Jian, X., Marcora, E., Renton, A. E., Kuzma, A., Wang, L. S., Koboldt, D. C., Haines, J. L. & Bush, W. S., 15 Aug 2018, In: Bioinformatics. 34, 16, p. 2724-2731 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

22 Scopus citations

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium & Project MinE ALS Sequencing Consortium, 21 Mar 2018, In: Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journal › Article › peer-review

Open Access

455 Scopus citations

Melatonin receptor type 1A gene linked to Alzheimer's disease in old age

Sulkava, S., Muggalla, P., Sulkava, R., Ollila, H. M., Peuralinna, T., Myllykangas, L., Kaivola, K., Stone, D. J., Traynor, B. J., Renton, A. E., Rivera, A. M., Helisalmi, S., Soininen, H., Polvikoski, T., Hiltunen, M., Tienari, P. J., Huttunen, H. J. & Paunio, T., 1 Jul 2018, In: Sleep. 41, 7

Research output: Contribution to journal › Article › peer-review

Open Access

30 Scopus citations

2017

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

Huang, K. L., Marcora, E., Pimenova, A. A., Di Narzo, A. F., Kapoor, M., Jin, S. C., Harari, O., Bertelsen, S., Fairfax, B. P., Czajkowski, J., Chouraki, V., Grenier-Boley, B., Bellenguez, C., Deming, Y., McKenzie, A., Raj, T., Renton, A. E., Budde, J., Smith, A. & Fitzpatrick, A. & 27 others, Bis, J. C., DeStefano, A., Adams, H. H. H., Ikram, M. A., Van Der Lee, S., Del-Aguila, J. L., Fernandez, M. V., Ibañez, L., Sims, R., Escott-Price, V., Mayeux, R., Haines, J. L., Farrer, L. A., Pericak-Vance, M. A., Lambert, J. C., Van Duijn, C., Launer, L., Seshadri, S., Williams, J., Amouyel, P., Schellenberg, G. D., Zhang, B., Borecki, I., Kauwe, J. S. K., Cruchaga, C., Hao, K. & Goate, A. M., 1 Aug 2017, In: Nature Neuroscience. 20, 8, p. 1052-1061 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

263 Scopus citations

C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten

Stopford, M. J., Higginbottom, A., Hautbergue, G. M., Cooper-Knock, J., Mulcahy, P. J., De Vos, K. J., Renton, A. E., Pliner, H., Calvo, A., Chio, A., Traynor, B. J., Azzouz, M., Heath, P. R., Kirby, J. & Shaw, P. J., 15 Mar 2017, In: Human Molecular Genetics. 26, 6, p. 1133-1145 13 p., ddx022.

Research output: Contribution to journal › Article › peer-review

Open Access

19 Scopus citations

Alan E. Renton

Research output

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