Mosaic KRAS Mutation in Schimmelpenning–Feuerstein–Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features

Hyvönen, H., Kettunen, K., Avela, K., Kivirikko, S., Jeskanen, L., Suominen, S., Salminen, P. & Hannula-Jouppi, K., 7 dec. 2024, I: Pediatric Dermatology. 5 s.

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Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders

Schrauwen, I., Rajendran, Y., Acharya, A., Öhman, S., Arvio, M., Paetau, R., Siren, A., Avela, K., Granvik, J., Leal, S. M., Määttä, T., Kokkonen, H. & Järvelä, I., 2024, I: Scientific Reports. 14, 1, 7 s., 11239.

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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 andra, Pirson, 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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