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Author

M. Haanpää

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Case report Open access Sep 2026

Neurofibromatosis 1 (NF1) gene testing reveals rising variant allele fraction as an early warning sign of juvenile myelomonocytic leukemia.

Molecular analysis of the NF1 gene is part of the diagnostic criteria for neurofibromatosis type 1 (NF1) and is particularly useful in young children who do not yet exhibit sufficient clinical signs for diagnosis. Juvenile myelomonocytic leukemia (JMML) is a rare pediatric myelodysplastic/myeloproliferative neoplasm th...

S. Peltonen, Christian Johansson, Marika H. Grönroos et al. · 0 citations
Open access Aug 2026

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

It is shown that determining the clinical significance of CHD8 MVs is challenging, even with detailed clinical information, but that incorporating episignature analysis increases diagnostic yield and will improve the diagnosis and understanding of CHD8-related disorders.

Molly Godfrey, Michael A. Levy, Christopher Campbell et al. · 0 citations

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