J. Hernandez-Rodriguez

The conserved ASTN2/BRINP1 locus at 9q33.1–33.2 is associated with major psychiatric disorders in a large pedigree from Southern Spain

K. Strauch, D. Heine-Suñer, G. Olmos, 2021, Scientific Reports.

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.

J. Lupski, A. Balduini, H. Lochmüller, 2023, American journal of human genetics.

Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca

D. Heine-Suñer, G. Nuel, V. Planté-Bordeneuve, 2023, Orphanet Journal of Rare Diseases.

Identification of Driver Epistatic Gene Pairs Combining Germline and Somatic Mutations in Cancer

E. Capriotti, D. Heine-Suñer, E. Amengual-Cladera, 2023, International journal of molecular sciences.