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Author

A. Deshwar

h-index 12 View on Semantic Scholar

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Review Open access Sep 2026

A Generalizable, Governance-Embedded Pathway for Assessing Patient-Level Opportunities for Genetic Medicines

PurposeTo describe the development of - and outcomes from - an institution-level initiative supporting access to innovative genetic medicines information and opportunities. MethodsWe developed and implemented a Genetic Medicines Patient Assessment Pathway for rare genetic conditions at a large public hospital, with mu...

D. Cheerie, Amy Y. Pan, M. Acker et al. · 0 citations
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

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