Integration of Alzheimer’s disease genetics and myeloid genomics identifies disease risk regulatory elements and genes von Novikova, Gloriia, Kapoor, Manav, TCW, Julia, Abud, Edsel M., Efthymiou, Anastasia G., Chen, Steven X., Cheng, Haoxiang, Fullard, John F., Bendl, Jaroslav, Liu, Yiyuan, Roussos, Panos, Björkegren, Johan LM, Liu, Yunlong, Poon, Wayne W., Hao, Ke, Marcora, Edoardo, Goate, Alison M.

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Tensor decomposition of stimulated monocyte and macrophage gene expression profiles identifies neurodegenerative disease-specific trans-eQTLs von Ramdhani, S, Navarro, E, Udine, E, Efthymiou, AG, Schilder, BM, Parks, M, Goate, A, Raj, T

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Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn von Efthymiou, Stephanie, Novis, Luiz E, Koutsis, Georgios, Koniari, Chrysoula, Maroofian, Reza, Turchetti, Valentina, Velonakis, Georgios, Vasconcellos, Luiz F, Raskin, Salmo, Srinivasan, Varunvenkat M, Pagnamenta, Alistair T, Arun, Yaramanchanahalli B, Kinhal, Uddhava V, Gowda, Vykuntaraju K, Teive, Helio AG, Houlden, Henry

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De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype von Nicotera, AG, Dicanio, D, Pironti, E, Bonsignore, M, Cafeo, A, Efthymiou, S, Mondello, P, Salpietro, V, Houlden, H, Di Rosa, G

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Antibodies against TFPI and protein C are associated with a severe thrombotic phenotype in patients with and without antiphospholipid syndrome von Efthymiou, M, Arachchillage, DRJ, Lane, PJ, O'Keeffe, AG, McDonnell, T, Cohen, H, Mackie, IJ

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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases von Perenthaler, E, Nikoncuk, A, Yousefi, S, Berdowski, WM, Alsagob, M, Capo, I, van der Linde, HC, van den Berg, P, Jacobs, EH, Putar, D, Ghazvini, M, Aronica, E, van IJcken, WFJ, de Valk, WG, Medici-van den Herik, E, van Slegtenhorst, M, Brick, L, Kozenko, M, Kohler, JN, Bernstein, JA, Monaghan, KG, Begtrup, A, Torene, R, Al Futaisi, A, Al Murshedi, F, Mani, R, Al Azri, F, Kamsteeg, E-J, Mojarrad, M, Eslahi, A, Khazaei, Z, Darmiyan, FM, Doosti, M, Karimiani, EG, Vandrovcova, J, Zafar, F, Rana, N, Kandaswamy, KK, Hertecant, J, Bauer, P, AlMuhaizea, MA, Salih, MA, Aldosary, M, Almass, R, Al-Quait, L, Qubbaj, W, Coskun, S, Alahmadi, KO, Hamad, MHA, Alwadaee, S, Awartani, K, Dababo, AM, Almohanna, F, Colak, D, Dehghani, M, Mehrjardi, MYV, Gunel, M, Ercan-Sencicek, AG, Passi, GR, Cheema, HA, Efthymiou, S, Houlden, H, Bertoli-Avella, AM, Brooks, AS, Retterer, K, Maroofian, R, Kaya, N, van Ham, TJ, Barakat, TS

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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons von Bell, S, Rousseau, J, Peng, H, Aouabed, Z, Priam, P, Theroux, J-F, Jefri, M, Tanti, A, Wu, H, Kolobova, I, Silviera, H, Manzano-Vargas, K, Ehresmann, S, Hamdan, FF, Hettige, N, Zhang, X, Antonyan, L, Nassif, C, Ghaloul-Gonzalez, L, Sebastian, J, Vockley, J, Begtrup, AG, Wentzensen, IM, Crunk, A, Nicholls, RD, Herman, KC, Deignan, JL, Al-Hertani, W, Efthymiou, S, Salpietro, V, Miyake, N, Makita, Y, Matsumoto, N, Ostern, R, Houge, G, Hafstrom, M, Fassi, E, Houlden, H, Wassink-Ruiter, JSK, Nelson, D, Goldstein, A, Dabir, T, van Gils, J, Bourgeron, T, Delorme, R, Cooper, GM, Martinez, JE, Finnila, CR, Carmant, L, Lortie, A, Oegema, R, van Gassen, K, Mehta, SG, Huhle, D, Abou Jamra, R, Martin, S, Brunner, HG, Lindhout, D, Au, M, Graham, JM, Coubes, C, Turecki, G, Gravel, S, Mechawar, N, Rossignol, E, Michaud, JL, Lessard, J, Ernst, C, Campeau, PM

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