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Author

Martine Doco-Fenzy

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Oct 2026

Functional stratification of YWHAZ variants explains distinct neurodevelopmental disorders.

The application of clinical genomics in personalized medical practice increasingly reveals that variants from single loci can lead to phenotypic heterogeneity. This necessitates functional characterization and classification of serial variants to correlate their associated clinical features and molecular properties. Re...

Ivan K. Popov, M. Motta, I. G. Prandi et al. · 0 citations
Open access Jul 2026

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly

NFIC-related disorder represents a novel neurodevelopmental syndrome characterized by intellectual disability and macrocephaly, highlighting the importance of NFIC dosage supporting a mirror-syndrome model.

Nathalie Vanden Eynde, L. Hérissant, E. Landais et al. · 0 citations

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