Ramalho, Anabela S.

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

Sosnay, P. R., Siklosi, K. R., Van Goor, F., Kaniecki, K., Yu, H., Sharma, N., Ramalho, A. S., Amaral, M. D., Dorfman, R., Zielenski, J., et al. (2013) · Nature Genetics

Cystic Fibrosis Research AdvancesGenomics and Rare Diseases

Cited by 630

Protocol for Application, Standardization and Validation of the Forskolin-Induced Swelling Assay in Cystic Fibrosis Human Colon Organoids

Vonk, A. M., van Mourik, P., Ramalho, A. S., Silva, I. A. L., Statia, M., Kruisselbrink, E., Suen, S. W. F., Dekkers, J. F., Vleggaar, F. P., Houwen, R. H. J., et al. (2020) · STAR Protocols

Cystic Fibrosis Research AdvancesGenetic and Kidney Cyst Diseases

Cited by 128

Correction of CFTR function in intestinal organoids to guide treatment of cystic fibrosis

Ramalho, A. S., Fürstová, E., Vonk, A. M., Ferrante, M., Verfaillie, C., Dupont, L., Boon, M., Proesmans, M., Beekman, J. M., Sarouk, I., et al. (2021) · European Respiratory Journal

Cystic Fibrosis Research AdvancesGenetic and Kidney Cyst Diseases

Cited by 121

Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing

Maule, G., Casini, A., Montagna, C., Ramalho, A. S., De Boeck, K., Debyser, Z., Carlon, M. S., Petris, G., & Cereseto, A. (2019) · Nature Communications

CRISPR and Genetic EngineeringCystic Fibrosis Research Advances

Cited by 86

rAAV-CFTRΔR Rescues the Cystic Fibrosis Phenotype in Human Intestinal Organoids and Cystic Fibrosis Mice

Vidović, D., Carlon, M. S., da Cunha, M. F., Dekkers, J. F., Hollenhorst, M. I., Bijvelds, M. J. C., Ramalho, A. S., Van den Haute, C., Ferrante, M., Baekelandt, V., et al. (2016) · American Journal of Respiratory and Critical Care Medicine

Cystic Fibrosis Research AdvancesVirus-based gene therapy research

Cited by 74

Prime editing functionally corrects cystic fibrosis-causing CFTR mutations in human organoids and airway epithelial cells

Bulcaen, M., Kortleven, P., Liu, R. B., Maule, G., Dreano, E., Kelly, M., Ensinck, M. M., Thierie, S., Smits, M., Ciciani, M., et al. (2024) · Cell Reports Medicine

Cystic Fibrosis Research AdvancesCRISPR and Genetic Engineering

Cited by 69