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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

Tahir N. Khan

h-index 3 View on Semantic Scholar

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Review Open access Jul 2026

Whole-exome sequencing reveals novel and previously reported variants in genes linked to white matter pathology in neurodevelopmental disorders.

This study highlights the effectiveness of whole-exome sequencing as a diagnostic tool for heterogeneous neurological disorders and provides additional evidence supporting gene-disease associations in conditions linked to white matter pathology.

N. Ahmad, T. Aleem, Chunyu Liu et al. · 0 citations
Jun 2026

RBMX functional retrocopy safeguards brain development in a species-dependent context.

It is demonstrated that RBMX and RBMXL1 share protein and RNA partners and act redundantly in brain development, with RBMXL1 buffering the impact of RBMX deficiency and establishing RBMXL1 as a functional paralog of RBMX that is likely buffering deleterious variation in a context- and dosage-dependent manner.

P. Tilliole, C. Mattausch, Peggy Tilly et al. · 0 citations

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