Author
The Francis Crick InstituteORCID 0000-0003-2582-6602Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Eva Lana‐Elola, Rifdat Aoidi, Miriam Llorian…·Victor L. J. Tybulewicz
The paper shows increased DYRK1A dosage causes mitochondrial dysfunction and congenital heart defects in Down syndrome, which can be mitigated by a DYRK1A inhibitor.
Eva Lana‐Elola, Heather L. Cater, Sheona Watson-Scales…·Victor L. J. Tybulewicz
The paper phenotypes Dp1Tyb mice, a Down syndrome model, and identifies multiple DS-like traits including cognitive and physical abnormalities.
Erick E Nakagaki-Silva, Clare Gooding, Miriam Llorian…·Christopher W. J. Smith
The paper identifies RBPMS as a master splicing regulator in vascular smooth muscle cells by analyzing its proximity to super-enhancers and its role in alternative splicing during phenotypic switching.