Lluı́s Montoliu

This paper identifies genetic variants and genes associated with foveal hypoplasia using GWAS and multi-omics data, and establishes a zebrafish model to study the condition.

The paper generates a mouse model of FHONDA syndrome with mutations in SLC38A8, showing normal pigmentation but visual deficits similar to albinism.

The paper identifies a new CRISPR-Cas9 system from a metagenome, characterized by a smaller Cas9 protein (EHCas9) with DNA targeting capabilities, and develops a simplified tool for genome editing in prokaryotes and eukaryotic cells.

This study shows that exercise in mice can transmit cognitive benefits to the second generation through miRNA-mediated mechanisms, even when cellular changes in the first generation are lost.

The paper identifies boundary sequences at the mouse tyrosinase locus that act as enhancers and insulators, preventing cross-talk with adjacent genes.