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Author

Robin Wijngaard

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Review Open access Aug 2026

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

The findings underscore the value of reviewing all strong genetic variants within a multidisciplinary team setting, facilitating a bidirectional exchange of expertise, which enhances diagnostic accuracy, particularly when the underlying cause of the disease is not immediately apparent.

M. Oud, Elise A. Ferreira, C. V. van Karnebeek et al. · 0 citations
Open access Aug 2026

Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.

A high prevalence of rare (mainly de novo) genetic variants in individuals with severe and sporadic DLD is revealed, and extensive molecular overlap with other neurodevelopmental disorders is demonstrated.

Milou G. P. Kennis, Leenke van Haaften, K. van Hulst et al. · 0 citations
Open access Jul 2026

NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

Downstream regulatory variants are a substantial cause of NKX2-1-RDs and diagnostic strategies should include this regulatory region and systematic structural variant detection, particularly when coding variants have been excluded.

Robin Wijngaard, Lucy Dougherty-de Miguel, G. Demidov et al. · 0 citations

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