Author

T. Celse

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Review Open access Aug 2026

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.

This work collected cases of HTX investigated by trio-based whole-exome (WES) and whole-genome sequencing (WGS) and performed detailed clinical and molecular characterization in seven children and fetuses from France and Vietnam and revealed significant phenotypic heterogeneity while highlighting strong genotype-phenotype correlations.

Thi Bich Tuyen Ho, Alicia Coudert, Thi Thuy Hang Do et al. · Clinical Genetics · 0 citations

Open access Aug 2026

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

AGO2 is established as a pivotal regulator of neurodevelopment whose structural integrity is essential for precise miRNA-mediated gene regulation and isomiR generation, and occurrence of gonadal mosaicism is reported and revealed.

Debora Tibbe, Christina Kiel, Olena Ielesicheva et al. · Genome Medicine · 0 citations