Validation of differentially methylated microRNAs identified from an epigenome-wide association study; Sanger and next generation sequencing approaches

por Smyth, Laura J., Maxwell, Alexander P., Benson, Katherine A., Kilner, Jill, McKay, Gareth J., McKnight, Amy Jayne
Publicado 2018

Germline mosaicism in a family with MBD5 haploinsufficiency

por Bhatia, Mehak, Cavalleri, Gianpiero L., White, Máire, Delanty, Norman, Sweeney, Brian J., Costello, Daniel J., Greally, Marie T., Benson, Katherine A.
Publicado 2022

Diagnostic utility of genetic testing in patients undergoing renal biopsy

por Benson, Katherine A., Murray, Susan L., Doyle, Ross, Doyle, Brendan, Dorman, Anthony M., Sadlier, Denise, Brennan, Eoin, Large, Margaret, Cavalleri, Gianpiero L., Godson, Catherine, Conlon, Peter J.
Publicado 2020

The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project

por Elhassan, Elhussein A. E., Murray, Susan L., Connaughton, Dervla M., Kennedy, Claire, Cormican, Sarah, Cowhig, Cliona, Stapleton, Caragh, Little, Mark A., Kidd, Kendrah, Bleyer, Anthony J., Živná, Martina, Kmoch, Stanislav, Fennelly, Neil K., Doyle, Brendan, Dorman, Anthony, Griffin, Matthew D., Casserly, Liam, Harris, Peter C., Hildebrandt, Friedhelm, Cavalleri, Gianpiero L., Benson, Katherine A., Conlon, Peter J.
Publicado 2022

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

por Kidd, Kendrah, Vylet’al, Petr, Schaeffer, Céline, Olinger, Eric, Živná, Martina, Hodaňová, Kateřina, Robins, Victoria, Johnson, Emily, Taylor, Abbigail, Martin, Lauren, Izzi, Claudia, Jorge, Sofia C., Calado, Joaquim, Torres, Rosa J., Lhotta, Karl, Steubl, Dominik, Gale, Daniel P., Gast, Christine, Gombos, Eva, Ainsworth, Hannah C., Chen, Ying Maggie, Almeida, Jorge Reis, de Souza, Cintia Fernandes, Silveira, Catarina, Raposeiro, Rita, Weller, Nelson, Conlon, Peter J., Murray, Susan L., Benson, Katherine A., Cavalleri, Gianpiero L., Votruba, Miroslav, Vrbacká, Alena, Amoroso, Antonio, Gianchino, Daniela, Caridi, Gianluca, Ghiggeri, Gian Marco, Divers, Jasmin, Scolari, Francesco, Devuyst, Olivier, Rampoldi, Luca, Kmoch, Stanislav, Bleyer, Anthony J.
Publicado 2020