A comprehensive epigenomic analysis of phenotypically distinguishable, genetically identical female and male Daphnia pulex

Kvist, J., Athanasio, C. G., Pfrender, M. E., Brown, J. B., Colbourne, J. K. & Mirbahai, L., 6 jan 2020, I : BMC Genomics. 21, 1, 17 s., 17.

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ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons

Harjuhaahto, S., Rasila, T. S., Molchanova, S. M., Woldegebriel, R., Kvist, J., Konovalova, S., Sainio, M. T., Pennonen, J., Torregrosa-Munumer, R., Ibrahim, H., Otonkoski, T., Taira, T., Ylikallio, E. & Tyynismaa, H., jul 2020, I : Neurobiology of Disease. 141, 14 s., 104940.

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Characterisation of the dynamic nature of lipids throughout the lifespan of genetically identical female and male Daphnia magna

Constantinou, J. K., Southam, A. D., Kvist, J., Jones, M. R., Viant, M. R. & Mirbahai, L., 27 mar 2020, I : Scientific Reports. 10, 1, 15 s., 5576.

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Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

Woldegebriel, R., Kvist, J., Andersson, N., Ounap, K., Reinson, K., Wojcik, M. H., Bijlsma, E. K., Hoffer, M. J., Ryan, M. M., Stark, Z., Walsh, M., Cuppen, I., van den Boogaard, M-J. H., Bharucha-Goebel, D., Donkervoort, S., Winchester, S., Zori, R., Bonnemann, C. G., Maroofian, R., O'Connor, E. & 8 andra, Houlden, H., Zhao, F., Carpen, O., White, M., Sreedharan, J., Stewart, M., Ylikallio, E. & Tyynismaa, H., 1 maj 2020, I : Human Molecular Genetics. 29, 9, s. 1426-1439 14 s.

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Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease

Rönkkö, J., Molchanova, S., Revah-Politi, A., Pereira, E. M., Auranen, M., Toppila, J., Kvist, J., Ludwig, A., Neumann, J., Bultynck, G., Humblet-Baron, S., Liston, A., Paetau, A., Rivera, C., Harms, M. B., Tyynismaa, H. & Ylikallio, E., 19 sep 2020, I : Annals of Clinical and Translational Neurology. 7, 10, s. 1962-1972 11 s.

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