Últimas publicaciones Scopus
- 2026
- De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders Nature Communications · Vol. 17 Article
- Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project Human Genetics · Vol. 145 Article
- Reply to Tarchini et al.: Evidence for a GPR156 role in central stress responses in addition to its inner-ear function Proceedings of the National Academy of Sciences of the United States of America · Vol. 123 Article
- Navigating ethical, legal and social implications in genomic newborn screening Nature Reviews Genetics · Vol. 27 Note
- Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking American Journal of Human Genetics · Vol. 113 Article
