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Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies McAnallen, Susan M.; Elhassan, Elhussein A. E.; Stoneman, Sinead; Vairo, Filippo Pinto e; Hogan, Marie C.; Hoefele, Julia; Clince, Michelle; Mekraksakit, Poemlarp; Titan, Silvia M.; Jorge, Sofia; Calado, Joaquim; Decramer, Stephane; Colliou, Eloise; Tellier, Stephanie; Francisco, Telma; Servais, Aude; Cornet, Josephine; de Fallois, Jonathan; Dossier, Claire; Fenoglio, Roberta; Renieri, Alessandra; Pinto, Anna Maria; Daga, Sergio; Loberti, Lorenzo; Fila, Marc; Quintana, Luis F.; Becherucci, Francesca; Godefroid, Nathalie; Dubrasquet, Astrid; Kalman, Tory; Dolan, Niamh; Alawi, Bushra Al; Sweeney, Clodagh; Riordan, Michael; Stack, Maria; Awan, Atif; Hui, Ng Kar; McCarthy, Hugh J.; Biros, Erik; Harris, Trudie; Kidd, Kendrah; Haeberle, Stefanie; Bleyer, Anthony J.; Mallett, Andrew J.; Sayer, John A.; Schafer, Franz; Benson, Katherine A.; McCann, Emma; Conlon, Peter J. Share Save
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Donor and Recipient Polygenic Risk Scores Influence Kidney Transplant Function Collins, Kane E.; Gilbert, Edmund; Mauduit, Vincent; Benson, Katherine A.; Elhassan, Elhussein A. E.; O'Seaghdha, Conall; Hill, Claire; Mcknight, Amy Jayne; van der Most, Peter J.; de Borst, Martin H.; Guan, Weihua; Jacobson, Pamala A.; Israni, Ajay K.; Keating, Brendan J.; Lord, Graham M.; Markkinen, Salla; Helantera, Ilkka; Hyvarinen, Kati; Partanen, Jukka; Madden, Stephen F.; Lanktree, Matthew B.; Limou, Sophie; Cavalleri, Gianpiero L. Share Save
Polygenic risk scores for eGFR are associated with age at kidney failure Collins, Kane E.; Gilbert, Edmund; Mauduit, Vincent; Gaheer, Pukhraj; Elhassan, Elhussein A. E.; Benson, Katherine A.; Osman, Shohdan Mohamad; Mcknight, Amy Jayne; Maxwell, Alexander Peter; van der Most, Peter J.; de Borst, Martin H.; Guan, Weihua; Jacobson, Pamala A.; Israni, Ajay K.; Keating, Brendan J.; Lord, Graham M.; Markkinen, Salla; Helantera, Ilkka; Hyvarinen, Kati; Partanen, Jukka; Madden, Stephen F.; Storrar, Joshua; Sinha, Smeeta; Kalra, Philip A.; Lanktree, Matthew B.; Limou, Sophie; Cavalleri, Gianpiero L.; Conlon, Peter J. Share Save
Rare disease gene association discovery in the 100,000 Genomes Project Cipriani, Valentina; Vestito, Letizia; Magavern, Emma F.; Jacobsen, Julius O. B.; Arno, Gavin; Behr, Elijah R.; Benson, Katherine A.; Bertoli, Marta; Bowl, Michael R.; Chan, Li F.; Chinnery, Patrick; Conlon, Peter J.; Costa, Marcos A.; Davidson, Alice E.; Dawson, Sally J.; Elhassan, Elhussein A. E.; Flanagan, Sarah E.; Futema, Marta; Gale, Daniel P.; Garcia-Ruiz, Sonia; Corcia, Cecilia Gonzalez; Griffin, Helen R.; Hambleton, Sophie; Hicks, Amy R.; Houlden, Henry; Houlston, Richard S.; Howles, Sarah A.; Kleta, Robert; Lekkerkerker, Iris; Liskova, Petra; Mitchison, Hannah H.; Morsy, Heba; Mumford, Andrew D.; Newman, William G.; Neatu, Ruxandra; O'Toole, Edel A.; Ong, Albert C. M.; Pagnamenta, Alistair T.; Rahman, Shamima; Rajan, Neil; Robinson, Peter N.; Ryten, Mina; Sadeghi-Alavijeh, Omid; Sayer, John A.; Shovlin, Claire L.; Taylor, Jenny C.; Teltsh, Omri; Tomlinson, Ian; Tucci, Arianna; van Eerde, Albertien M.; Ware, James S.; Watts, Laura M.; Webster, Andrew R.; Westbury, Sarah K.; Zheng, Sean L.; Caulfield, Mark; Smedley, Damian Share Save
The prevalence of MUC5B variant and survival of patients with interstitial lung disease in Ireland: A multi-centre cohort study Carolan, Aoife; Logan, Niamh; Musameh, Khaled; O'Brien, Helen; Osaki, Mari; Ng, Wan Lin; Jasmin, Jisha; Pantring, Fiona; Benson, Katherine; Gilbert, Edmund; Cavalleri, Ganpiero; Schwartz, David A.; Mccarthy, Cormac; Keane, Michael P.; Henry, Michael T.; Hurley, Killian Share Save
A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis Elhassan, Elhussein A. E.; Kmochova, Tereza; Benson, Katherine A.; Fennelly, Neil K.; Baresova, Veronika; Kidd, Kendrah; Doyle, Brendan; Dorman, Anthony; Morrin, Martina M.; Kyne, Niamh C.; Vyletal, Petr; Hartmannova, Hana; Hodanova, Katerina; Sovova, Jana; Musalkova, Dita; Vrbacka, Alena; Pristoupilova, Anna; Zivny, Jan; Svojsova, Klara; Radina, Martin; Stranecky, Viktor; Loginov, Dmitry; Pompach, Petr; Novak, Petr; Vanickova, Zdislava; Hansikova, Hana; Rajnochova-Bloudickova, Silvie; Viklicky, Ondrej; Hulkova, Helena; Cavalleri, Gianpiero L.; Hnizda, Ales; Bleyer, Anthony J.; Kmoch, Stanislav; Conlon, Peter J.; Zivna, Martina Share Save
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group Schmidt, Ryan J.; Steeves, Marcie; Bayrak-Toydemir, Pinar; Benson, Katherine A.; Coe, Bradley P.; Conlin, Laura K.; Ganapathi, Mythily; Garcia, John; Gollob, Michael H.; Jobanputra, Vaidehi; Luo, Minjie; Ma, Deqiong; Maston, Glenn; Mcgoldrick, Kelly; Palculict, T. Blake; Pesaran, Tina; Pollin, Toni I.; Qian, Emily; Rehm, Heidi L.; Riggs, Erin R.; Schilit, Samantha L. P.; Sergouniotis, Panagiotis I.; Tvrdik, Tatiana; Watkins, Nicholas; Zec, Lauren; Zhang, Wenying; Lebo, Matthew S. Share Save
Familial Variability of Disease Severity in Adult Patients With ADPKD Elhassan, Elhussein A. E.; O'Kelly, Patrick; Collins, Kane E.; Teltsh, Omri; Ciurli, Francesca; Murray, Susan L.; Kennedy, Claire; Madden, Stephen F.; Benson, Katherine A.; Cavalleri, Gianpiero L.; Conlon, Peter J. Share Save
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The role of common genetic variation in presumed monogenic epilepsies Campbell, Ciaran; Leu, Costin; Feng, Yen-Chen Anne; Wolking, Stefan; Moreau, Claudia; Ellis, Colin; Ganesan, Shiva; Martins, Helena; Oliver, Karen; Boothman, Isabelle; Benson, Katherine; Molloy, Anne; Brody, Lawrence; Michaud, Jacques L.; Hamdan, Fadi F.; Minassian, Berge A.; Lerche, Holger; Scheffer, Ingrid E.; Sisodiya, Sanjay; Girard, Simon; Cosette, Patrick; Delanty, Norman; Lal, Dennis; Cavalleri, Gianpiero L. Share Save
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype Senum, Sarah R.; Li, Ying (Sabrina) M.; Benson, Katherine A.; Joli, Giancarlo; Olinger, Eric; Lavu, Sravanthi; Madsen, Charles D.; V. Gregory, Adriana; Neatu, Ruxandra; Kline, Timothy L.; Audrezet, Marie -Pierre; Outeda, Patricia; Nau, Cherie B.; Meijer, Esther; Ali, Hamad; Steinman, Theodore I.; Mrug, Michal; Phelan, Paul J.; Watnick, Terry J.; Peters, Dorien J. M.; Ong, Albert C. M.; Conlon, Peter J.; Perrone, Ronald D.; Cornec-Le Gall, Emilie; Hogan, Marie C.; Torres, Vicente E.; Saver, John A.; Harris, Peter C. Share Save
A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS Lane, Brandon M.; Murray, Susan; Benson, Katherine; Bierzynska, Agnieszka; Chryst-Stangl, Megan; Wang, Liming; Wu, Guanghong; Cavalleri, Gianpiero; Doyle, Brendan; Fennelly, Neil; Dorman, Anthony; Conlon, Shane; Vega-Warner, Virginia; Fermin, Damian; Vijayan, Poornima; Qureshi, Mohammad Azfar; Shril, Shirlee; Barua, Moumita; Hildebrandt, Friedhelm; Pollak, Martin; Howell, David; Sampson, Matthew G.; Saleem, Moin; Conlon, Peter J.; Spurney, Robert; Gbadegesin, Rasheed Share Save
The genetic landscape of polycystic kidney disease in Ireland Benson, Katherine A.; Murray, Susan L.; Senum, Sarah R.; Elhassan, Elhussein; Conlon, Eoin T.; Kennedy, Claire; Conlon, Shane; Gilbert, Edmund; Connaughton, Dervla; O'Hara, Paul; Khamis, Sarah; Cormican, Sarah; Brody, Lawrence C.; Molloy, Anne M.; Lynch, Sally Ann; Casserly, Liam; Griffin, Matthew D.; Carton, Robert; Yachnin, Kevin; Harris, Peter C.; Cavalleri, Gianpiero L.; Conlon, Peter Share Save
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations Kidd, Kendrah; Vylet'al, Petr; Schaeffer, Celine; Olinger, Eric; Zivna, Martina; Hodanova, Katerina; 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; Souza, Cintia Fernandes de; Silveira, Catarina; Raposeiro, Rita; Weller, Nelson; Conlon, Peter J.; Murray, Susan L.; Benson, Katherine A.; Cavalleri, Gianpiero L.; Votruba, Miroslav; Vrbacka, Alena; Amoroso, Antonio; Gianchino, Daniela; Caridi, Gianluca; Ghiggeri, Gian Marco; Divers, Jasmin; Scolari, Francesco; Devuyst, Olivier; Rampoldi, Luca; Kmoch, Stanislav; Bleyer, Anthony J. Share Save
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability Benson, Katherine A.; White, Maire; Allen, Nicholas M.; Byrne, Susan; Carton, Robert; Comerford, Elizabeth; Costello, Daniel; Doherty, Colin; Dunleavey, Brendan; El-Naggar, Hany; Gangadharan, Nisha; Heavin, Sinead; Kearney, Hugh; Lench, Nicholas J.; Lynch, John; McCormack, Mark; O'Regan, Mary; Podesta, Karl; Power, Kevin; Rogers, Anthony S.; Steward, Charles A.; Sweeney, Brian; Webb, David; Fitzsimons, Mary; Greally, Marie; Delanty, Norman; Cavalleri, Gianpiero L. Share Save
Utility of Genomic Testing after Renal Biopsy Murray, Susan L.; Dorman, Anthony; Benson, Katherine A.; Connaughton, Dervla M.; Stapleton, Caragh P.; Fennelly, Neil K.; Kennedy, Claire; McDonnell, Ciara A.; Kidd, Kendrah; Cormican, Sarah M.; Ryan, Louise A.; Lavin, Peter; Little, Mark A.; Bleyer, Anthony J.; Doyle, Brendan; Cavalleri, Gianpiero L.; Hildebrandt, Friedhelm; Conlon, Peter J. Share Save
Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland Cormican, S.; Connaughton, D. M.; Kennedy, C.; Murray, S.; Zivna, M.; Kmoch, S.; Fennelly, N. K.; O'Kelly, P.; Benson, K. A.; Conlon, E. T.; Cavalleri, G.; Foley, C.; Doyle, B.; Dorman, A.; Little, M. A.; Lavin, P.; Kidd, K.; Bleyer, A. J.; Conlon, P. J. Share Save
Development of a genomics module within an epilepsy-specific electronic health record: Toward genomic medicine in epilepsy care Delanty, Norman; White, Maire; Benson, Katherine; McCormack, Mark; Heavin, Sinead; Comerford, Elizabeth; Gangadharan, Nisha; Power, Kevin; Dunleavey, Brendan; El-Naggar, Hany; Doherty, Colin; Greally, Marie; Cavalleri, Gianpiero; Fitzsimons, Mary Share Save
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