Author
European Bioinformatics InstituteORCID 0000-0002-6427-5703Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Maria F Anglero Mendez, Ian M. Sitarik, Quyen V. Vu…·Edward P. O’Brien
The paper investigates whether proteins with native entanglements are more prone to misfolding and associated with disease, finding significant statistical associations.
Jürgen Jänes, Marc Müller, Senthil Selvaraj…·Pedro Beltrão
The paper predicts the mechanistic impacts of human protein missense variants on stability, protein-protein interactions, and small-molecule binding using AlphaFold2 structures.
Elizabeth J. Radford, Hong-Kee Tan, Malin H. L. Andersson…·Matthew E. Hurles
The paper uses saturation genome editing to assess DDX3X variants' functional impact, identifies pathogenic variants for neurodevelopmental disorders, and develops a classifier outperforming existing tools.
Marcia Anahí Hasenahuer, Alba Sanchis‐Juan, Roman Aleksander Laskowski…·Janet M. Thornton
The paper maps constrained coding regions in the human genome to their corresponding proteins and identifies protein features associated with high constraint for variation.
Hilary C. Martin, Wendy D. Jones, Rebecca E. McIntyre…·on behalf of the Deciphering Developmental Disorders Study
The paper estimates the contribution of recessive coding variants to developmental disorders using exome data from 7,448 families, finding low prevalence in European ancestry but higher in Pakistani ancestry.