Almudena Fernández

Dissecting the functional landscape of rare diseases through genomic variation in a heterogeneous cohort of 11,000 patients

This study uses genomic data from 11,084 patients to build a variant database and identify disease-associated signals, leading to molecular diagnoses in 32 unsolved rare disease cases.

A slc38a8 mouse model of FHONDA syndrome faithfully recapitulates the visual deficits of albinism without pigmentation defects

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

Identification of the EH CRISPR-Cas9 system on a metagenome and its application to genome engineering

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.

Boundary sequences flanking the mouse tyrosinase locus ensure faithful pattern of gene expression

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