Author

Wandong Hu

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Case report Open access Aug 2026

Case Report: A somatic NF1 splice-altering variant identified in lesional tissue in peripheral blood-negative segmental facial neurofibromatosis

This case expands the spectrum of splice-altering NF1 variants and reveals a previously uncharacterized molecular mechanism underlying segmental neurofibromatosis, providing functional evidence that NF1 c.7970+4_7970+7del is a splice-disrupting variant with pathogenic relevance in the context of segmental neurofibromat...

Song Su, Hao-Chen Zou, Yin-Hua Lin et al. · Frontiers in Neuroscience · 0 citations

Review Open access Jul 2026

Genotype-phenotype correlations and clinical spectrum of ALG13-related developmental epileptic encephalopathy.

A pooled analysis delineates the phenotypic spectrum of ALG13-related epilepsy and emphasizes the prominence of the N107S hotspot variant, which is associated with more severe neurodevelopmental outcomes.

Song Su, Wenchao Zhang, Ying Ren et al. · Seizure · 0 citations

Review Open access Jan 2026

Novel ALG13 Variants and an Expanded Neurodevelopmental Spectrum: Genotype–Phenotype Correlations

The findings support a possible domain‐related genotype–phenotype association for the role of ALG13 in neurodevelopmental disorders and provide additional developmental context for the role of ALG13 in neurodevelopmental disorders.

Song Su, Wandong Hu, Ying Ren et al. · Human Mutation · 0 citations