1. Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. Issue 4 (3rd February 2021) Authors: Domingo-Gallego, Andrea; Pybus, Marc; Bullich, Gemma; Furlano, Mónica; Ejarque-Vila, Laia; Lorente-Grandoso, Laura; Ruiz, Patricia; Fraga, Gloria; López González, Mercedes; Piñero-Fernández, Juan Alberto; Rodríguez-Peña, Lidia; Llano-Rivas, Isabel; Sáez, Raquel; Bujons-Tur, Anna; Ariceta, Gema; G... Journal: Nephrology dialysis transplantation Issue: Volume 37:Issue 4(2022) Page Start: 687 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Contribution of the TTC21B gene to glomerular and cystic kidney diseases. Issue 1 (2nd March 2016) Authors: Bullich, Gemma; Vargas, Iván; Trujillano, Daniel; Mendizábal, Santiago; Piñero-Fernández, Juan Alberto; Fraga, Gloria; García-Solano, José; Ballarín, José; Estivill, Xavier; Torra, Roser; Ars, Elisabet Journal: Nephrology dialysis transplantation Issue: Volume 32:Issue 1(2017) Page Start: 151 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next‐generation sequencing. Issue 5 (23rd May 2014) Authors: Trujillano, Daniel; Bullich, Gemma; Ossowski, Stephan; Ballarín, José; Torra, Roser; Estivill, Xavier; Ars, Elisabet Journal: Molecular genetics & genomic medicine Issue: Volume 2:Issue 5(2014:Sep.) Page Start: 412 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. Issue 6 (20th May 2022) Authors: Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Corvó, Alberto; Fernández‐Callejo, Marcos; Garcia‐Linares, Carles; Hernandez‐Ferrer, Carles; Luengo, Cristina; Martínez, Inés; Papakonstantinou, Anastasios; Picó‐Amador, Daniel; Protasio, Joan; Thompson, Rachel; Tonda, Raul; Bayés, Mònica; Bullic... Other Names: Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor. Journal: Human mutation Issue: Volume 43:Issue 6(2022) Page Start: 717 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗