Author

F. Alkuraya

1 paper indexed here

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Open access Jul 2026

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

Functional modelling in zebrafish confirms a loss‑of-function mechanism and highlights species‑dependent differences specifically in the impact of the missense variant on protein function, and provides a cautionary tale about overreliance on animal models as a screening tool for variant classification.

H. Shamseldin, Dana Marafi, Mohammed A Al-Muhaizea et al. · 0 citations