Author

R. Pfundt

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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, Karen van Hulst et al. · European Journal of Human Ge... · 0 citations

Case report Open access Aug 2026

Case Report: A novel HNRNPK gene variant causing Au-Kline syndrome; the genotype and phenotype of the oldest individual ever described

This case underscores that the genetic and neuropsychological identification of a neurodevelopmental disorder, together with the integration of tailored psychomotor interventions and contextual adaptations, can improve psychiatric management and daily functioning, and mitigate behavioral decline in adulthood, even following a prolonged diagnostic delay.

A. Bos-Roubos, Rosalie Te Brinke, A. Kattentidt-Mouravieva et al. · Frontiers in Psychiatry · 0 citations

Aug 2026

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

An integrative study combining Mendelian genetics, clinical and association studies, and animal and molecular modeling supports variants in ELAVL2 as a cause of a neurodevelopmental disorder, with haploinsufficiency as the disease mechanism, and identifies crucial roles of ELAVL2 in neuronal function, cognition, and behavior.

Marina Boon, Meghan R. Mulligan, Jolijn J. A. Verseput et al. · American Journal of Human Ge... · 0 citations