Author
Vall d'Hebron Institut de RecercaORCID 0000-0003-2104-9332Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Neftalí Vázquez, Chanjae Lee, Irene Valenzuela…·John B. Wallingford
This study identifies RSG1/CPLANE2 as a causative gene for human ciliopathy and shows its role in ciliary transition zone assembly.
Elisabeth Bosch, Bernt Popp, Esther Güse…·Georgia Vasileiou
The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.
Giovanni Lo Iacono, Elisabetta Mereu, Amy Guillaumet-Adkins…·Holger Heyn
bigSCale is a scalable framework for analyzing large single-cell RNA sequencing datasets, showing improved speed and accuracy in differential expression analysis and identifying rare cell populations.