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Author

N. Samra

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Open access Aug 2026

CCDC149: a novel gene associated with hypopituitarism and neurodevelopmental impairment.

This study is the first to report CCDC149 variants in association with Congenital Hypopituitarism, supporting the possibility of impaired ciliary function as an underlying mechanism in this complex disorder.

L. Gregory, Shoshana Rath, Hanna Mandel et al. · 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. · 0 citations