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Author

R. Redon

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Open access Sep 2026

Clinical and multi-omics characterisation of early neurodevelopmental disorders associated with critical congenital heart disease: the prospective cohort CATAMARAN neonatal study protocol

This study aims to evaluate early neurodevelopmental status in infants with prenatally diagnosed critical CHD and to determine how intrinsic susceptibility, prenatal and postnatal factors are functionally associated with developmental delay in this population.

Oscar Werner, Véronique Ferchaud-Roucher, Matilde Karakachoff et al. · 0 citations
Open access Aug 2026

Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.

It is concluded that rare coding CNVs in a proportion of AD-associated genes and 22q11.21 duplication as a strong AD-risk-decreasing factor increase AD risk and Conversely, 22q11.21 duplication as a strong AD-risk-decreasing factor is identified.

O. Quenez, Catherine Schramm, K. Cassinari et al. · 1 citation

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