Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

Whittle, E. F., Chilian, M., Karimiani, E. G., Progri, H., Buhas, D., Kose, M., Ganetzky, R. D., Toosi, M. B., Torbati, P. N., Badv, R. S., Shelihan, I., Yang, H., Elloumi, H. Z., Lee, S., Jamshidi, Y., Pittman, A. M., Houlden, H., Ignatius, E., Rahman, S. & Maroofian, R. & 2 andra, Yoon, W. H. & Carrol, C. J., feb. 2023, I: Genetics In medicine. 25, 2, 16 s., 100332.

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Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype

Ignatius, E., Puosi, R., Palomäki, M., Forsbom, N., Pohjanpelto, M., Alitalo, T., Anttonen, A.-K., Avela, K., Haataja, L., Carroll, C. J., Lönnqvist, T. & Isohanni, P., mars 2022, I: European Journal of Paediatric Neurology. 37, s. 1-7 7 s.

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Genetic background of ataxia in children younger than 5 years in Finland

Ignatius, E., Isohanni, P., Pohjanpelto, M., Lahermo, P., Ojanen, S., Brilhante, V., Palin, E., Suomalainen, A., Lönnqvist, T. & Carroll, C. J., aug. 2020, I: Neurology Genetics. 6, 4, 9 s., 444.

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Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

Thi Tuyet Mai Nguyen, Murakami, Y., Sheridan, E., Ehresmann, S., Rousseau, J., St-Denis, A., Chai, G., Ajeawung, N. F., Fairbrother, L., Reimschisel, T., Bateman, A., Berry-Kravis, E., Xia, F., Tardif, J., Parry, D. A., Logan, C. V., Diggle, C., Bennett, C. P., Hattingh, L. & Rosenfeld, J. A. & 12 andra, Perry, M. S., Parker, M. J., Le Deist, F., Zaki, M. S., Ignatius, E., Isohanni, P., Lonnqvist, T., Carroll, C. J., Johnson, C. A., Gleeson, J. G., Kinoshita, T. & Campeau, P. M., 2 nov. 2017, I: American Journal of Human Genetics. 101, 5, s. 856-865 10 s.

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