Author

A. Garde

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Open access Sep 2026

Lithium chloride in vitro treatment shows potential to rescue the neuronal phenotype caused by WDFY3 haploinsufficiency.

The findings suggest that LiCl may serve as a potential therapeutic strategy for patients with WDFY3 LoF variants and expand on the phenotype related to WDFY3 LoF and provide insights into the pathophysiology using in vitro human and murine neuronal models.

Moritz J. Paha, Arshi Mustafa, Lyvin Tat et al. · Molecular Psychiatry · 0 citations

Review Open access Jul 2026

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

This represents the most comprehensive characterization to date of TRND, a novel neurodevelopmental disorder, defining its genotypic and phenotypic spectrum.

Sally Nijim, Mimi Kim, Melissa Denish et al. · Genetics in Medicine · 1 citation

Open access Jul 2026

Unveiling ocular developmental disorders through short-read whole-genome sequencing.

It is demonstrated that short-read WGS significantly improves diagnostic yield in patients with congenital eye malformations, including those previously undiagnosed despite NGS panel testing.

Bertrand Chesneau, Timotéo Cousteix, Abdelhakim Bouazzaoui et al. · European Journal of Human Ge... · 1 citation · ⚡1