Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance

Jacquemin, V., Versbraegen, N., Duerinckx, S., Massart, A., Soblet, J., Perazzolo, C., Deconinck, N., Brischoux-Boucher, E., De Leener, A., Revencu, N., Janssens, S., Moorgat, S., Blaumeiser, B., Avela, K., Touraine, R., Abou Jaoude, I., Keymolen, K., Saugier-Veber, P., Lenaerts, T., Abramowicz, M., & 1 andraPirson, I., 2 mars 2023, I: Human Genomics. 17, 1, 14 s., 16.

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Jansen de Vries syndrome: Report of four new patients and review of the literature

Tuiskula, A., Rahikkala, E., Kero, A., Haanpää, M. K. & Avela, K., aug. 2023, I: European Journal of Medical Genetics. 66, 8, 6 s., 104807.

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Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG

Majander, A., Sankila, E-M., Falck, A., Vasara, L. K., Seitsonen, S., Kulmala, M., Haavisto, A-K., Avela, K. & Turunen, J. A., mars 2023, I: Acta Ophthalmologica. 101, 2, s. 215-221 7 s.

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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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A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case

Narhi, A., Fernandes, A., Toiviainen-Salo, S., Harris, J., McInerney-Leo, A., Lazarus, S., Avela, K. & Duncan, EL., aug. 2021, I: American Journal of Medical Genetics. Part A. 185, 8, s. 2477-2481 5 s.

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