Author

A. Garde

View on Semantic Scholar

2 papers indexed here

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

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