NeuroGenomics and Informatics Center

Lim, Y. Y., Maruff, P., Barthélemy, N. R., Goate, A., Hassenstab, J., Sato, C., Fagan, A. M., Benzinger, T. L. S., Xiong, C., Cruchaga, C., Levin, J., Farlow, M. R., Graff-Radford, N. R., Laske, C., Masters, C. L., Salloway, S., Schofield, P. R., Morris, J. C., Bateman, R. J. & McDade, E., Mar 2022, In: JAMA Neurology. 79, 3, p. 261-270 10 p.

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21 Scopus citations

Association of Data-Driven White Matter Hyperintensity Spatial Signatures with Distinct Cerebral Small Vessel Disease Etiologies

Phuah, C. L., Chen, Y., Strain, J. F., Yechoor, N., Laurido-Soto, O. J., Ances, B. M. & Lee, J. M., Dec 6 2022, In: Neurology. 99, 23, p. E2535-E2547

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Open Access

48 Scopus citations

Association of Rare APOE Missense Variants V236E and R251G with Risk of Alzheimer Disease

Le Guen, Y., Belloy, M. E., Grenier-Boley, B., De Rojas, I., Castillo-Morales, A., Jansen, I., Nicolas, A., Bellenguez, C., Dalmasso, C., Küçükali, F., Eger, S. J., Rasmussen, K. L., Thomassen, J. Q., Deleuze, J. F., He, Z., Napolioni, V., Amouyel, P., Jessen, F., Kehoe, P. G. & Van Duijn, C. & 89 others, Tsolaki, M., Sánchez-Juan, P., Sleegers, K., Ingelsson, M., Rossi, G., Hiltunen, M., Sims, R., Van Der Flier, W. M., Ramirez, A., Andreassen, O. A., Frikke-Schmidt, R., Williams, J., Ruiz, A., Lambert, J. C., Greicius, M. D., Arosio, B., Benussi, L., Boland, A., Borroni, B., Caffarra, P., Daian, D., Daniele, A., Debette, S., Dufouil, C., Düzel, E., Galimberti, D., Giedraitis, V., Grimmer, T., Graff, C., Grünblatt, E., Hanon, O., Hausner, L., Heilmann-Heimbach, S., Holstege, H., Hort, J., Jürgen, D., Kuulasmaa, T., Van Der Lugt, A., Masullo, C., Mecocci, P., Mehrabian, S., De Mendonça, A., Moebus, S., Nacmias, B., Nicolas, G., Olaso, R., Papenberg, G., Parnetti, L., Pasquier, F., Peters, O., Pijnenburg, Y. A. L., Popp, J., Rainero, I., Ramakers, I., Riedel-Heller, S., Scarmeas, N., Scheltens, P., Scherbaum, N., Schneider, A., Seripa, D., Soininen, H., Solfrizzi, V., Spalletta, G., Squassina, A., Van Swieten, J., Tegos, T. J., Tremolizzo, L., Verhey, F., Vyhnalek, M., Wiltfang, J., Boada, M., García-González, P., Puerta, R., Real, L. M., Álvarez, V., Bullido, M. J., Clarimon, J., García-Alberca, J. M., Mir, P., Moreno, F., Pastor, P., Piñol-Ripoll, G., Molina-Porcel, L., Pérez-Tur, J., Rodríguez-Rodríguez, E., Royo, J. L., Sánchez-Valle, R., Dichgans, M. & Rujescu, D., Jul 2022, In: JAMA Neurology. 79, 7, p. 652-663 12 p.

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

49 Scopus citations

Association of Stroke Lesion Pattern and White Matter Hyperintensity Burden With Stroke Severity and Outcome

Bonkhoff, A. K., Hong, S., Bretzner, M., Schirmer, M. D., Regenhardt, R. W., Arsava, E. M., Donahue, K., Nardin, M., Dalca, A., Giese, A. K., Etherton, M. R., Hancock, B. L., Mocking, S. J. T., Mcintosh, E., Attia, J., Benavente, O., Cole, J. W., Donatti, A., Griessenauer, C. & Heitsch, L. & 37 others, Holmegaard, L., Jood, K., Jimenez-Conde, J., Kittner, S., Lemmens, R., Levi, C., Mcdonough, C. W., Meschia, J., Phuah, C. L., Rolfs, A., Ropele, S., Rosand, J., Roquer, J., Rundek, T., Sacco, R. L., Schmidt, R., Sharma, P., Slowik, A., Soederholm, M., Sousa, A., Stanne, T. M., Strbian, D., Tatlisumak, T., Thijs, V., Vagal, A., Wasselius, J., Woo, D., Zand, R., Mcardle, P., Worrall, B. B., Jern, C., Lindgren, A. G., Maguire, J., Golland, P., Bzdok, D., Wu, O. & Rost, N. S., Sep 27 2022, In: Neurology. 99, 13, p. E1364-E1379

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

Open Access

23 Scopus citations

Astrocytic 4R tau expression drives astrocyte reactivity and dysfunction

Ezerskiy, L. A., Schoch, K. M., Sato, C., Beltcheva, M., Horie, K., Rigo, F., Martynowicz, R., Karch, C. M., Bateman, R. J. & Miller, T. M., Jan 11 2022, In: JCI Insight. 7, 1, 152012.

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

Open Access

20 Scopus citations

Astrocytic α2-Na⁺/K⁺ ATPase inhibition suppresses astrocyte reactivity and reduces neurodegeneration in a tauopathy mouse model

Mann, C. N., Devi, S. S., Kersting, C. T., Bleem, A. V., Karch, C. M., Holtzman, D. M. & Gallardo, G., Feb 16 2022, In: Science translational medicine. 14, 632, eabm4107.

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

Open Access

42 Scopus citations

Autosomal dominant and sporadic late onset Alzheimer's disease share a common in vivo pathophysiology

Morris, J. C., Weiner, M., Xiong, C., Beckett, L., Coble, D., Saito, N., Aisen, P. S., Allegri, R., Benzinger, T. L. S., Berman, S. B., Cairns, N. J., Carrillo, M. C., Chui, H. C., Chhatwal, J. P., Cruchaga, C., Fagan, A. M., Farlow, M., Fox, N. C., Ghetti, B. & Goate, A. M. & 27 others, Gordon, B. A., Graff-Radford, N., Day, G., Hassenstab, J., Ikeuchi, T., Jack, C. R., Jagust, W. J., Jucker, M., Levin, J., Massoumzadeh, P., Masters, C. L., Martins, R., McDade, E., Mori, H., Noble, J. M., Petersen, R. C., Ringman, J. M., Salloway, S., Saykin, A. J., Schofield, P. R., Shaw, L. M., Toga, A. W., Trojanowski, J. Q., Vöglein, J., Weninger, S., Bateman, R. J. & Buckles, V., Oct 1 2022, In: Brain. 145, 10, p. 3594-3607 14 p.

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

Open Access

29 Scopus citations

Baseline Microglial Activation Correlates With Brain Amyloidosis and Longitudinal Cognitive Decline in Alzheimer Disease

Wang, Q., Chen, G., Schindler, S. E., Christensen, J., McKay, N. S., Lu, E., Wang, S., Sun, Z., Hassenstab, J., Su, Y., Flores, S., Hornbeck, R., Cash, L., Cruchaga, C., Fagan, A. M., Tu, Z., Morris, J. C., Mintun, M. A., Wang, Y. & Benzinger, T. L. S., May 8 2022, In: Neurology: Neuroimmunology and NeuroInflammation. 9, 3, e1152.

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

Open Access

24 Scopus citations

Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement

Zech, M., Kumar, K. R., Reining, S., Reunert, J., Tchan, M., Riley, L. G., Drew, A. P., Adam, R. J., Berutti, R., Biskup, S., Derive, N., Bakhtiari, S., Jin, S. C., Kruer, M. C., Bardakjian, T., Gonzalez-Alegre, P., Keller Sarmiento, I. J., Mencacci, N. E., Lubbe, S. J. & Kurian, M. A. & 9 others, Clot, F., Méneret, A., de Sainte Agathe, J. M., Fung, V. S. C., Vidailhet, M., Baumann, M., Marquardt, T., Winkelmann, J. & Boesch, S., Jan 2022, In: Movement Disorders. 37, 1, p. 137-147 11 p.

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

Open Access

18 Scopus citations

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

Calame, D. G., Herman, I., Maroofian, R., Marshall, A. E., Donis, K. C., Fatih, J. M., Mitani, T., Du, H., Grochowski, C. M., Sousa, S. B., Gijavanekar, C., Bakhtiari, S., Ito, Y. A., Rocca, C., Hunter, J. V., Sutton, V. R., Emrick, L. T., Boycott, K. M., Lossos, A. & Fellig, Y. & 45 others, Prus, E., Kalish, Y., Meiner, V., Suerink, M., Ruivenkamp, C., Muirhead, K., Saadi, N. W., Zaki, M. S., Bouman, A., Barakat, T. S., Skidmore, D. L., Osmond, M., Silva, T. O., Murphy, D., Karimiani, E. G., Jamshidi, Y., Jaddoa, A. G., Tajsharghi, H., Jin, S. C., Abbaszadegan, M. R., Ebrahimzadeh-Vesal, R., Hosseini, S., Alavi, S., Bahreini, A., Zarean, E., Salehi, M. M., Al-Sannaa, N. A., Zifarelli, G., Bauer, P., Robson, S. C., Coban-Akdemir, Z., Travaglini, L., Nicita, F., Jhangiani, S. N., Gibbs, R. A., Posey, J. E., Kruer, M. C., Kernohan, K. D., Morales Saute, J. A., Houlden, H., Vanderver, A., Elsea, S. H., Pehlivan, D., Marafi, D. & Lupski, J. R., Aug 2022, In: Annals of neurology. 92, 2, p. 304-321 18 p.

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

Open Access

2 Scopus citations

Brain ventricles as windows into brain development and disease

Duy, P. Q., Rakic, P., Alper, S. L., Butler, W. E., Walsh, C. A., Sestan, N., Geschwind, D. H., Jin, S. C. & Kahle, K. T., Jan 5 2022, In: Neuron. 110, 1, p. 12-15 4 p.

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Open Access

35 Scopus citations

Cell specific peripheral immune responses predict survival in critical COVID-19 patients

Amrute, J. M., Perry, A. M., Anand, G., Cruchaga, C., Hock, K. G., Farnsworth, C. W., Randolph, G. J., Lavine, K. J. & Steed, A. L., Dec 2022, In: Nature communications. 13, 1, 882.

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

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28 Scopus citations

Challenges at the APOE locus: a robust quality control approach for accurate APOE genotyping

for the European Alzheimer & Dementia BioBank (EADB), Belloy, M. E., Eger, S. J., Le Guen, Y., Damotte, V., Ahmad, S., Ikram, M. A., Ramirez, A., Tsolaki, A. C., Rossi, G., Jansen, I. E., de Rojas, I., Parveen, K., Sleegers, K., Ingelsson, M., Hiltunen, M., Amin, N., Andreassen, O., Sánchez-Juan, P. & Kehoe, P. & 9 others, Amouyel, P., Sims, R., Frikke-Schmidt, R., van der Flier, W. M., Lambert, J. C., He, Z., Han, S. S., Napolioni, V. & Greicius, M. D., Dec 2022, In: Alzheimer's Research and Therapy. 14, 1, 22.

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

Open Access

6 Scopus citations

Cholesterol and matrisome pathways dysregulated in astrocytes and microglia

TCW, J., Qian, L., Pipalia, N. H., Chao, M. J., Liang, S. A., Shi, Y., Jain, B. R., Bertelsen, S. E., Kapoor, M., Marcora, E., Sikora, E., Andrews, E. J., Martini, A. C., Karch, C. M., Head, E., Holtzman, D. M., Zhang, B., Wang, M., Maxfield, F. R. & Poon, W. W. & 1 others, Goate, A. M., Jun 23 2022, In: Cell. 185, 13, p. 2213-2233.e25

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

Open Access

177 Scopus citations

Chronic neuropsychiatric sequelae of SARS-CoV-2: Protocol and methods from the Alzheimer's Association Global Consortium

de Erausquin, G. A., Snyder, H., Brugha, T. S., Seshadri, S., Carrillo, M., Sagar, R., Huang, Y., Newton, C., Tartaglia, C., Teunissen, C., Håkanson, K., Akinyemi, R., Prasad, K., D'Avossa, G., Gonzalez-Aleman, G., Hosseini, A., Vavougios, G. D., Sachdev, P., Bankart, J. & Mors, N. P. O. & 76 others, Lipton, R., Katz, M., Fox, P. T., Katshu, M. Z., Iyengar, M. S., Weinstein, G., Sohrabi, H. R., Jenkins, R., Stein, D. J., Hugon, J., Mavreas, V., Blangero, J., Cruchaga, C., Krishna, M., Wadoo, O., Becerra, R., Zwir, I., Longstreth, W. T., Kroenenberg, G., Edison, P., Mukaetova-Ladinska, E., Staufenberg, E., Figueredo-Aguiar, M., Yécora, A., Vaca, F., Zamponi, H. P., Re, V. L., Majid, A., Sundarakumar, J., Gonzalez, H. M., Geerlings, M. I., Skoog, I., Salmoiraghi, A., Boneschi, F. M., Patel, V. N., Santos, J. M., Arroyo, G. R., Moreno, A. C., Felix, P., Gallo, C., Arai, H., Yamada, M., Iwatsubo, T., Sharma, M., Chakraborty, N., Ferreccio, C., Akena, D., Brayne, C., Maestre, G., Blangero, S. W., Brusco, L. I., Siddarth, P., Hughes, T. M., Zuñiga, A. R., Kambeitz, J., Laza, A. R., Allen, N., Panos, S., Merrill, D., Ibáñez, A., Tsuang, D., Valishvili, N., Shrestha, S., Wang, S., Padma, V., Anstey, K. J., Ravindrdanath, V., Blennow, K., Mullins, P., Łojek, E., Pria, A., Mosley, T. H., Gowland, P., Girard, T. D., Bowtell, R. & Vahidy, F. S., 2022, In: Alzheimer's and Dementia: Translational Research and Clinical Interventions. 8, 1, e12348.

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

Open Access

17 Scopus citations

Circular RNA detection identifies circPSEN1 alterations in brain specific to autosomal dominant Alzheimer's disease

Dominantly Inherited Alzheimer Network, Dec 2022, In: Acta Neuropathologica Communications. 10, 1, 29.

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

Open Access

15 Scopus citations

Comparative Analysis of Alzheimer's Disease Cerebrospinal Fluid Biomarkers Measurement by Multiplex SOMAscan Platform and Immunoassay-Based Approach

Timsina, J., Gomez-Fonseca, D., Wang, L., Do, A., Western, D., Alvarez, I., Aguilar, M., Pastor, P., Henson, R. L., Herries, E., Xiong, C., Schindler, S. E., Fagan, A. M., Bateman, R. J., Farlow, M., Morris, J. C., Perrin, R., Moulder, K., Hassenstab, J. & Chhatwal, J. & 3 others, Mori, H., Sung, Y. J. & Cruchaga, C., 2022, In: Journal of Alzheimer's Disease. 89, 1, p. 193-207 15 p.

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Open Access

25 Scopus citations

Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family with Early-Onset Alzheimer Disease

Eger, S. J., Le Guen, Y., Khan, R. R., Hall, J. N., Kennedy, G., Zaharchuk, G., Couthouis, J., Brooks, W. S., Velakoulis, D., Napolioni, V., Belloy, M. E., Dalgard, C. L., Mormino, E. C., Gitler, A. D. & Greicius, M. D., Feb 7 2022, In: Neurology: Genetics. 8, 1, e647.

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

Open Access

Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke

Jaworek, T., Xu, H., Gaynor, B. J., Cole, J. W., Rannikmae, K., Stanne, T. M., Tomppo, L., Abedi, V., Amouyel, P., Armstrong, N. D., Attia, J., Bell, S., Benavente, O. R., Boncoraglio, G. B., Butterworth, A., Carcel-Marquez, J., Chen, Z., Chong, M., Cruchaga, C. & Cushman, M. & 95 others, Danesh, J., Debette, S., Duggan, D. J., Durda, J. P., Engstrom, G., Enzinger, C., Faul, J. D., Fecteau, N. S., Fernandez-Cadenas, I., Gieger, C., Giese, A. K., Grewal, R. P., Grittner, U., Havulinna, A. S., Heitsch, L., Hochberg, M. C., Holliday, E., Hu, J., Ilinca, A., Irvin, M. R., Jackson, R. D., Jacob, M. A., Rabionet, R., Jimenez-Conde, J., Johnson, J. A., Kamatani, Y., Kardia, S. L. R., Koido, M., Kubo, M., Lange, L., Lee, J. M., Lemmens, R., Levi, C. R., Li, J., Li, L., Lin, K., Lopez, H., Luke, S., Maguire, J., McArdle, P. F., McDonough, C. W., Meschia, J. F., Metso, T., Müller-Nurasyid, M., O'Connor, T. D., O'Donnell, M., Peddareddygari, L. R., Pera, J., Perry, J. A., Peters, A., Putaala, J., Ray, D., Rexrode, K., Ribases, M., Rosand, J., Rothwell, P. M., Rundek, T., Ryan, K. A., Sacco, R. L., Salomaa, V., Sanchez-Mora, C., Schmidt, R., Sharma, P., Slowik, A., Smith, J. A., Smith, N. L., Wassertheil-Smoller, S., Söderholm, M., Stine, O. C., Strbian, D., Sudlow, C. L. M., Tatlisumak, T., Terao, C., Thijs, V., Torres-Aguila, N. P., Trégouët, D. A., Tuladhar, A. M., Veldink, J. H., Walters, R. G., Weir, D. R., Woo, D., Worrall, B. B., Hong, C. C., Ross, O. A., Zand, R., De Leeuw, F. E., Lindgren, A. G., Pare, G., Anderson, C. D., Markus, H. S., Jern, C., Malik, R., Dichgans, M., Mitchell, B. D. & Kittner, S. J., Oct 18 2022, In: Neurology. 99, 16, p. E1738-E1754

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

Open Access

15 Scopus citations

CSF tau microtubule-binding region identifies pathological changes in primary tauopathies

Horie, K., Barthélemy, N. R., Spina, S., VandeVrede, L., He, Y., Paterson, R. W., Wright, B. A., Day, G. S., Davis, A. A., Karch, C. M., Seeley, W. W., Perrin, R. J., Koppisetti, R. K., Shaikh, F., Lago, A. L., Heuer, H. W., Ghoshal, N., Gabelle, A., Miller, B. L. & Boxer, A. L. & 2 others, Bateman, R. J. & Sato, C., Dec 2022, In: Nature medicine. 28, 12, p. 2547-2554 8 p.

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

Open Access

48 Scopus citations

CSF Tau phosphorylation at Thr205 is associated with loss of white matter integrity in autosomal dominant Alzheimer disease

Strain, J. F., Barthelemy, N., Horie, K., Gordon, B. A., Kilgore, C., Aschenbrenner, A., Cruchaga, C., Xiong, C., Joseph-Mathurin, N., Hassenstab, J., Fagan, A. M., Li, Y., Karch, C. M., Perrin, R. J., Berman, S. B., Chhatwal, J. P., Graff-Radford, N. R., Mori, H., Levin, J. & Noble, J. M. & 9 others, Allegri, R., Schofield, P. R., Marcus, D. S., Holtzman, D. M., Morris, J. C., Benzinger, T. L. S., McDade, E. M., Bateman, R. J. & Ances, B. M., Jun 15 2022, In: Neurobiology of Disease. 168, 105714.

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

Open Access

9 Scopus citations

Decoding the heterogeneity of Alzheimer’s disease diagnosis and progression using multilayer networks

For the Alzheimer’s Disease Neuroimaging Initiative, Avelar-Pereira, B., Belloy, M. E., O’Hara, R. & Hosseini, S. M. H., 2022, (Accepted/In press) In: Molecular Psychiatry. 28, 6, p. 2423-2432 10 p.

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Open Access

13 Scopus citations

Deep neural networks with controlled variable selection for the identification of putative causal genetic variants

Kassani, P. H., Lu, F., Le Guen, Y., Belloy, M. E. & He, Z., Sep 2022, In: Nature Machine Intelligence. 4, 9, p. 761-771 11 p.

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

8 Scopus citations

Deep profiling of multiple ischemic lesions in a large, multi-center cohort: Frequency, spatial distribution, and associations to clinical characteristics

the MRI-GENIE GISCOME Investigators, the International Stroke Genetics Consortium, Aug 25 2022, In: Frontiers in Neuroscience. 16, 994458.

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

Open Access

3 Scopus citations

Defective proteostasis in induced pluripotent stem cell models of frontotemporal lobar degeneration

Mahali, S., Martinez, R., King, M., Verbeck, A., Harari, O., Benitez, B. A., Horie, K., Sato, C., Temple, S. & Karch, C. M., Dec 2022, In: Translational psychiatry. 12, 1, 508.

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

Open Access

7 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

6 Scopus citations

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

Holstege, H., Hulsman, M., Charbonnier, C., Grenier-Boley, B., Quenez, O., Grozeva, D., van Rooij, J. G. J., Sims, R., Ahmad, S., Amin, N., Norsworthy, P. J., Dols-Icardo, O., Hummerich, H., Kawalia, A., Amouyel, P., Beecham, G. W., Berr, C., Bis, J. C., Boland, A. & Bossù, P. & 87 others, Bouwman, F., Bras, J., Campion, D., Cochran, J. N., Daniele, A., Dartigues, J. F., Debette, S., Deleuze, J. F., Denning, N., DeStefano, A. L., Farrer, L. A., Fernández, M. V., Fox, N. C., Galimberti, D., Genin, E., Gille, J. J. P., Le Guen, Y., Guerreiro, R., Haines, J. L., Holmes, C., Ikram, M. A., Ikram, M. K., Jansen, I. E., Kraaij, R., Lathrop, M., Lemstra, A. W., Lleó, A., Luckcuck, L., Mannens, M. M. A. M., Marshall, R., Martin, E. R., Masullo, C., Mayeux, R., Mecocci, P., Meggy, A., Mol, M. O., Morgan, K., Myers, R. M., Nacmias, B., Naj, A. C., Napolioni, V., Pasquier, F., Pastor, P., Pericak-Vance, M. A., Raybould, R., Redon, R., Reinders, M. J. T., Richard, A. C., Riedel-Heller, S. G., Rivadeneira, F., Rousseau, S., Ryan, N. S., Saad, S., Sanchez-Juan, P., Schellenberg, G. D., Scheltens, P., Schott, J. M., Seripa, D., Seshadri, S., Sie, D., Sistermans, E. A., Sorbi, S., van Spaendonk, R., Spalletta, G., Tesi, N., Tijms, B., Uitterlinden, A. G., van der Lee, S. J., Visser, P. J., Wagner, M., Wallon, D., Wang, L. S., Zarea, A., Clarimon, J., van Swieten, J. C., Greicius, M. D., Yokoyama, J. S., Cruchaga, C., Hardy, J., Ramirez, A., Mead, S., van der Flier, W. M., van Duijn, C. M., Williams, J., Nicolas, G., Bellenguez, C. & Lambert, J. C., Dec 2022, In: Nature Genetics. 54, 12, p. 1786-1794 9 p.

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Open Access

94 Scopus citations

Gene-lifestyle interactions in the genomics of human complex traits

the CHARGE Gene-Lifestyle Interactions Working Group, Jun 2022, In: European Journal of Human Genetics. 30, 6, p. 730-739 10 p.

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Open Access

18 Scopus citations

Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

EADB consortium & The GR@ACE study group, Nov 2022, In: Acta Neuropathologica. 144, 5, p. 821-842 22 p.

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

Open Access

56 Scopus citations

GhostKnockoff inference empowers identification of putative causal variants in genome-wide association studies

He, Z., Liu, L., Belloy, M. E., Le Guen, Y., Sossin, A., Liu, X., Qi, X., Ma, S., Gyawali, P. K., Wyss-Coray, T., Tang, H., Sabatti, C., Candès, E., Greicius, M. D. & Ionita-Laza, I., Dec 2022, In: Nature communications. 13, 1, 7209.

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

Open Access

7 Scopus citations

Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus

Duy, P. Q., Weise, S. C., Marini, C., Li, X. J., Liang, D., Dahl, P. J., Ma, S., Spajic, A., Dong, W., Juusola, J., Kiziltug, E., Kundishora, A. J., Koundal, S., Pedram, M. Z., Torres-Fernández, L. A., Händler, K., De Domenico, E., Becker, M., Ulas, T. & Juranek, S. A. & 47 others, Cuevas, E., Hao, L. T., Jux, B., Sousa, A. M. M., Liu, F., Kim, S. K., Li, M., Yang, Y., Takeo, Y., Duque, A., Nelson-Williams, C., Ha, Y., Selvaganesan, K., Robert, S. M., Singh, A. K., Allington, G., Furey, C. G., Timberlake, A. T., Reeves, B. C., Smith, H., Dunbar, A., DeSpenza, T., Goto, J., Marlier, A., Moreno-De-Luca, A., Yu, X., Butler, W. E., Carter, B. S., Lake, E. M. R., Constable, R. T., Rakic, P., Lin, H., Deniz, E., Benveniste, H., Malvankar, N. S., Estrada-Veras, J. I., Walsh, C. A., Alper, S. L., Schultze, J. L., Paeschke, K., Doetzlhofer, A., Wulczyn, F. G., Jin, S. C., Lifton, R. P., Sestan, N., Kolanus, W. & Kahle, K. T., Apr 2022, In: Nature neuroscience. 25, 4, p. 458-473 16 p.

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57 Scopus citations

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Kanoni, S., Graham, S. E., Wang, Y., Surakka, I., Ramdas, S., Zhu, X., Clarke, S. L., Bhatti, K. F., Vedantam, S., Winkler, T. W., Locke, A. E., Marouli, E., Zajac, G. J. M., Wu, K. H. H., Ntalla, I., Hui, Q., Klarin, D., Hilliard, A. T., Wang, Z. & Xue, C. & 519 others, Thorleifsson, G., Helgadottir, A., Gudbjartsson, D. F., Holm, H., Olafsson, I., Hwang, M. Y., Han, S., Akiyama, M., Sakaue, S., Terao, C., Kanai, M., Zhou, W., Brumpton, B. M., Rasheed, H., Havulinna, A. S., Veturi, Y., Pacheco, J. A., Rosenthal, E. A., Lingren, T., Feng, Q. P., Kullo, I. J., Narita, A., Takayama, J., Martin, H. C., Hunt, K. A., Trivedi, B., Haessler, J., Giulianini, F., Bradford, Y., Miller, J. E., Campbell, A., Lin, K., Millwood, I. Y., Rasheed, A., Hindy, G., Faul, J. D., Zhao, W., Weir, D. R., Turman, C., Huang, H., Graff, M., Choudhury, A., Sengupta, D., Mahajan, A., Brown, M. R., Zhang, W., Yu, K., Schmidt, E. M., Pandit, A., Gustafsson, S., Yin, X., Luan, J., Zhao, J. H., Matsuda, F., Jang, H. M., Yoon, K., Medina-Gomez, C., Pitsillides, A., Hottenga, J. J., Wood, A. R., Ji, Y., Gao, Z., Haworth, S., Yousri, N. A., Mitchell, R. E., Chai, J. F., Aadahl, M., Bjerregaard, A. A., Yao, J., Manichaikul, A., Hwu, C. M., Hung, Y. J., Warren, H. R., Ramirez, J., Bork-Jensen, J., Kårhus, L. L., Goel, A., Sabater-Lleal, M., Noordam, R., Mauro, P., Matteo, F., McDaid, A. F., Marques-Vidal, P., Wielscher, M., Trompet, S., Sattar, N., Møllehave, L. T., Munz, M., Zeng, L., Huang, J., Yang, B., Poveda, A., Kurbasic, A., Lamina, C., Forer, L., Scholz, M., Galesloot, T. E., Bradfield, J. P., Ruotsalainen, S. E., Daw, E. W., Zmuda, J. M., Mitchell, J. S., Fuchsberger, C., Christensen, H., Brody, J. A., Vazquez-Moreno, M., Feitosa, M. F., Wojczynski, M. K., Wang, Z., Preuss, M. H., Mangino, M., Christofidou, P., Verweij, N., Benjamins, J. W., Engmann, J., Tsao, N. L., Verma, A., Slieker, R. C., Lo, K. S., Zilhao, N. R., Le, P., Kleber, M. E., Delgado, G. E., Huo, S., Ikeda, D. 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28 Scopus citations

Inhibition of the enzyme autotaxin reduces cortical excitability and ameliorates the outcome in stroke

Bitar, L., Uphaus, T., Thalman, C., Muthuraman, M., Gyr, L., Ji, H., Domingues, M., Endle, H., Groppa, S., Steffen, F., Koirala, N., Fan, W., Ibanez, L., Heitsch, L., Cruchaga, C., Lee, J. M., Kloss, F., Bittner, S., Nitsch, R. & Zipp, F. & 1 others, Vogt, J., Apr 20 2022, In: Science translational medicine. 14, 641, eabk0135.

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24 Scopus citations

Leveraging large multi-center cohorts of Alzheimer disease endophenotypes to understand the role of Klotho heterozygosity on disease risk

Ali, M., Sung, Y. J., Wang, F., Fernández, M. V., Morris, J. C., Fagan, A. M., Blennow, K., Zetterberg, H., Heslegrave, A., Johansson, P. M., Svensson, J., Nellgård, B., Lleó, A., Alcolea, D., Clarimon, J., Rami, L., Molinuevo, J. L., Suárez-Calvet, M., Morenas-Rodríguez, E. & Kleinberger, G. & 6 others, Haass, C., Ewers, M., Levin, J., Farlow, M. R., Perrin, R. J. & Cruchaga, C., May 2022, In: PloS one. 17, 5 May, e0267298.

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10 Scopus citations

Mendelian randomization and genetic colocalization infer the effects of the multi-tissue proteome on 211 complex disease-related phenotypes

Yang, C., Fagan, A. M., Perrin, R. J., Rhinn, H., Harari, O. & Cruchaga, C., Dec 2022, In: Genome medicine. 14, 1, 140.

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17 Scopus citations

Multi-Ancestry GWAS reveals excitotoxicity associated with outcome after ischaemic stroke

Ibanez, L., Heitsch, L., Carrera, C., Farias, F. H. G., Del Aguila, J. L., Dhar, R., Budde, J., Bergmann, K., Bradley, J., Harari, O., Phuah, C. L., Lemmens, R., Souza, A. A. V. O., Moniche, F., Cabezas-Juan, A., Arenillas, J. F., Krupinksi, J., Cullell, N., Torres-Aguila, N. & Muiño, E. & 56 others, Cárcel-Márquez, J., Marti-Fabregas, J., Delgado-Mederos, R., Marin-Bueno, R., Hornick, A., Vives-Bauza, C., Navarro, R. D., Tur, S., Jimenez, C., Obach, V., Segura, T., Serrano-Heras, G., Chung, J. W., Roquer, J., Soriano-Tarraga, C., Giralt-Steinhauer, E., Mola-Caminal, M., Pera, J., Lapicka-Bodzioch, K., Derbisz, J., Davalos, A., Lopez-Cancio, E., Muñoz, L., Tatlisumak, T., Molina, C., Ribo, M., Bustamante, A., Sobrino, T., Castillo-Sanchez, J., Campos, F., Rodriguez-Castro, E., Arias-Rivas, S., Rodríguez-Yáñez, M., Herbosa, C., Ford, A. L., Gutierrez-Romero, A., Uribe-Pacheco, R., Arauz, A., Lopes-Cendes, I., Lowenkopf, T., Barboza, M. A., Amini, H., Stamova, B., Ander, B. P., Sharp, F. R., Moon Kim, G., Bang, O. Y., Jimenez-Conde, J., Slowik, A., Stribian, D., Tsai, E. A., Burkly, L. C., Montaner, J., Fernandez-Cadenas, I., Lee, J. M. & Cruchaga, C., Jul 1 2022, In: Brain. 145, 7, p. 2394-2406 13 p.

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14 Scopus citations

Multi-omics insights into the biological mechanisms underlying statistical gene-by-lifestyle interactions with smoking and alcohol consumption

on behalf of the CHARGE Gene-Lifestyle Interactions Working Group, Dec 5 2022, In: Frontiers in Genetics. 13, 954713.

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2 Scopus citations

Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations

Temprano-Sagrera, G., Sitlani, C. M., Bone, W. P., Martin-Bornez, M., Voight, B. F., Morrison, A. C., Damrauer, S. M., de Vries, P. S., Smith, N. L., Sabater-Lleal, M., Dehghan, A., Heath, A. S., Morrison, A. C., Reiner, A. P., Johnson, A., Richmond, A., Peters, A., van Hylckama Vlieg, A., McKnight, B. & Psaty, B. M. & 363 others, Hayward, C., Ward-Caviness, C., O’Donnell, C., Chasman, D., Strachan, D. P., Tregouet, D. A., Mook-Kanamori, D., Gill, D., Thibord, F., Asselbergs, F. W., Leebeek, F. W. G., Rosendaal, F. R., Davies, G., Homuth, G., Temprano, G., Campbell, H., Taylor, H. A., Bressler, J., Huffman, J. E., Rotter, J. I., Yao, J., Wilson, J. F., Bis, J. C., Hahn, J. M., Desch, K. C., Wiggins, K. L., Raffield, L. M., Bielak, L. F., Yanek, L. R., Kleber, M. E., Mueller, M., Kavousi, M., Mangino, M., Liu, M., Brown, M. R., Conomos, M. P., Jhun, M. A., Chen, M. H., de Maat, M. P. M., Pankratz, N., Smith, N. L., Peyser, P. A., Elliot, P., Wei, P., Wild, P. S., Morange, P. E., van der Harst, P., Yang, Q., Le, N. Q., Marioni, R., Li, R., Damrauer, S. M., Cox, S. R., Trompet, S., Felix, S. B., Völker, U., Tang, W., Koenig, W., Jukema, J. W., Guo, X., Lindstrom, S., Wang, L., Smith, E. N., Gordon, W., van Hylckama Vlieg, A., de Andrade, M., Brody, J. A., Pattee, J. W., Haessler, J., Brumpton, B. M., Suchon, P., Chen, M. H., Turman, C., Germain, M., Wiggins, K. L., MacDonald, J., Braekkan, S. K., Armasu, S. M., Pankratz, N., Jackson, R. D., Nielsen, J. B., Giulianini, F., Puurunen, M. K., Ibrahim, M., Heckbert, S. R., Bammler, T. K., Frazer, K. A., McCauley, B. M., Taylor, K., Pankow, J. S., Reiner, A. P., Gabrielsen, M. E., Deleuze, J. F., O’Donnell, C. J., Kim, J., McKnight, B., Kraft, P., Hansen, J. B., Rosendaal, F. R., Heit, J. A., Psaty, B. M., Tang, W., Kooperberg, C., Hveem, K., Ridker, P. M., Morange, P. E., Johnson, A. D., Kabrhel, C., Trégouët, D. A., Smith, N. L., Malik, R., Chauhan, G., Traylor, M., Sargurupremraj, M., Okada, Y., Mishra, A., Rutten-Jacobs, L., Giese, A. K., van der Laan, S. W., Gretarsdottir, S., Anderson, C. D., Chong, M., Adams, H. H. H., Ago, T., Almgren, P., Amouyel, P., Ay, H., Bartz, T. M., Benavente, O. R., Bevan, S., Boncoraglio, G. B., Brown, R. D., Butterworth, A. S., Carrera, C., Carty, C. L., Chen, W. M., Cole, J. W., Correa, A., Cotlarciuc, I., Cruchaga, C., Danesh, J., de Bakker, P. I. W., DeStefano, A. L., den Hoed, M., Duan, Q., Engelter, S. T., Falcone, G. J., Gottesman, R. F., Grewal, R. P., Gudnason, V., Gustafsson, S., Haessler, J., Harris, T. B., Hassan, A., Havulinna, A. S., Heckbert, S. R., Holliday, E. G., Howard, G., Hsu, F. C., Hyacinth, H. I., Arfan Ikram, M., Ingelsson, E., Irvin, M. R., Jian, X., Jiménez-Conde, J., Johnson, J. A., Jukema, J. W., Kanai, M., Keene, K. L., Kissela, B. M., Kleindorfer, D. O., Kooperberg, C., Kubo, M., Lange, L. A., Langefeld, C. D., Langenberg, C., Launer, L. J., Lee, J. M., Lemmens, R., Leys, D., Lewis, C. M., Lin, W. Y., Lindgren, A. G., Lorentzen, E., Magnusson, P. K., Maguire, J., Manichaikul, A., McArdle, P. F., Meschia, J. F., Mitchell, B. D., Mosley, T. H., Nalls, M. A., Ninomiya, T., O’Donnell, M. J., Psaty, B. M., Pulit, S. L., Rannikmäe, K., Reiner, A. P., Rexrode, K. M., Rice, K., Rich, S. S., Ridker, P. M., Rost, N. S., Rothwell, P. M., Rotter, J. I., Rundek, T., Sacco, R. L., Sakaue, S., Sale, M. M., Salomaa, V., Sapkota, B. R., Schmidt, R., Schmidt, C. O., Schminke, U., Sharma, P., Slowik, A., Sudlow, C. L. M., Tanislav, C., Tatlisumak, T., Taylor, K. D., Thijs, V. N. S., Thorleifsson, G., Thorsteinsdottir, U., Tiedt, S., Trompet, S., Tzourio, C., van Duijn, C. M., Walters, M., Wareham, N. J., Wassertheil-Smoller, S., Wilson, J. G., Wiggins, K. L., Yang, Q., Yusuf, S., Amin, N., Aparicio, H. S., Arnett, D. K., Attia, J., Beiser, A. S., Berr, C., Buring, J. E., Bustamante, M., Caso, V., Cheng, Y. C., Hoan Choi, S., Chowhan, A., Cullell, N., Dartigues, J. F., Delavaran, H., Delgado, P., Dörr, M., Engström, G., Ford, I., Gurpreet, W. S., Hamsten, A., Heitsch, L., Hozawa, A., Ibanez, L., Ilinca, A., Ingelsson, M., Iwasaki, M., Jackson, R. D., Jood, K., Jousilahti, P., Kaffashian, S., Kalra, L., Kamouchi, M., Kitazono, T., Kjartansson, O., Kloss, M., Koudstaal, P. J., Krupinski, J., Labovitz, D. L., Laurie, C. C., Levi, C. R., Li, L., Lind, L., Lindgren, C. M., Lioutas, V., Mei Liu, Y., Lopez, O. L., Makoto, H., Martinez-Majander, N., Matsuda, K., Minegishi, N., Montaner, J., Morris, A. P., Muiño, E., Müller-Nurasyid, M., Norrving, B., Ogishima, S., Parati, E. A., Reddy Peddareddygari, L., Pedersen, N. L., Pera, J., Perola, M., Pezzini, A., Pileggi, S., Rabionet, R., Riba-Llena, I., Ribasés, M., Romero, J. R., Roquer, J., Rudd, A. G., Sarin, A. P., Sarju, R., Sarnowski, C., Sasaki, M., Satizabal, C. L., Satoh, M., Sattar, N., Sawada, N., Sibolt, G., Sigurdsson, Á., Smith, A., Sobue, K., Soriano-Tárraga, C., Stanne, T., Colin Stine, O., Stott, D. J., Strauch, K., Takai, T., Tanaka, H., Tanno, K., Teumer, A., Tomppo, L., Torres-Aguila, N. P., Touze, E., Tsugane, S., Uitterlinden, A. G., Valdimarsson, E. M., van der Lee, S. J., Völzke, H., Wakai, K., Weir, D., Williams, S. R., Wolfe, C. D. A., Wong, Q., Xu, H., Yamaji, T., Sanghera, D. K., Melander, O., Jern, C., Strbian, D., Fernandez-Cadenas, I., Longstreth, W. T., Rolfs, A., Hata, J., Woo, D., Rosand, J., Pare, G., Hopewell, J. C., Saleheen, D., Stefansson, K., Worrall, B. B., Kittner, S. J., Seshadri, S., Fornage, M., Markus, H. S., Howson, J. M. M., Kamatani, Y., Debette, S. & Dichgans, M., Jun 1 2022, In: Journal of Thrombosis and Haemostasis. 20, 6, p. 1331-1349 19 p.

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15 Scopus citations

Murine roseolovirus does not accelerate amyloid-β pathology and human roseoloviruses are not over-represented in Alzheimer disease brains

Bigley, T. M., Xiong, M., Ali, M., Chen, Y., Wang, C., Serrano, J. R., Eteleeb, A., Harari, O., Yang, L., Patel, S. J., Cruchaga, C., Yokoyama, W. M. & Holtzman, D. M., Dec 2022, In: Molecular neurodegeneration. 17, 1, 10.

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10 Scopus citations

Mutation spectrum of congenital heart disease in a consanguineous Turkish population

Dong, W., Kaymakcalan, H., Jin, S. C., Diab, N. S., Tanıdır, C., Yalcin, A. S. Y., Ercan-Sencicek, A. G., Mane, S., Gunel, M., Lifton, R. P., Bilguvar, K. & Brueckner, M., Jun 2022, In: Molecular Genetics and Genomic Medicine. 10, 6, e1944.

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4 Scopus citations

Network assisted analysis of De novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease

Xie, Y., Jiang, W., Dong, W., Li, H., Jin, S. C., Brueckner, M. & Zhao, H., Jun 7 2022, In: PLoS genetics. 18, 6, e1010252.

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

Open Access

3 Scopus citations

NeuroGenomics and Informatics Center

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