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 others, Yoon, W. H. & Carrol, C. J., Feb 2023, In: Genetics In medicine. 25, 2, 16 p., 100332.

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

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., Mar 2022, In: European Journal of Paediatric Neurology. 37, p. 1-7 7 p.

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

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, In: Neurology Genetics. 6, 4, 9 p., 444.

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

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 others, 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, In: American Journal of Human Genetics. 101, 5, p. 856-865 10 p.

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