| Monogenic causes of chronic kidney disease in adults DM Connaughton, C Kennedy, S Shril, N Mann, SL Murray, PA Williams, ... Kidney international 95 (4), 914-928, 2019 | 219 | 2019 |
| Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype SR Senum, YSM Li, KA Benson, G Joli, E Olinger, S Lavu, CD Madsen, ... The American Journal of Human Genetics 109 (1), 136-156, 2022 | 81 | 2022 |
| A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability KA Benson, M White, NM Allen, S Byrne, R Carton, E Comerford, ... European Journal of Human Genetics 28 (8), 1066-1077, 2020 | 40 | 2020 |
| Genetic and clinical predictors of age of ESKD in individuals with autosomal dominant tubulointerstitial kidney disease due to UMOD mutations K Kidd, P Vylet’al, C Schaeffer, E Olinger, M Živná, K Hodaňová, V Robins, ... Kidney international reports 5 (9), 1472-1485, 2020 | 37 | 2020 |
| Continued axillary sampling is unnecessary and provides no further information to sentinel node biopsy in staging breast cancer GPH Gui, DJ Joubert, R Reichert, A Ward, S Lakhani, P Osin, A Nerurkar, ... European Journal of Surgical Oncology (EJSO) 31 (7), 707-714, 2005 | 30 | 2005 |
| Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland S Cormican, DM Connaughton, C Kennedy, S Murray, M Živná, S Kmoch, ... Renal failure 41 (1), 832-841, 2019 | 29 | 2019 |
| A HuGE review and meta-analyses of genetic associations in new onset diabetes after kidney transplantation KA Benson, AP Maxwell, AJ McKnight PloS one 11 (1), e0147323, 2016 | 27 | 2016 |
| Utility of genomic testing after renal biopsy SL Murray, A Dorman, KA Benson, DM Connaughton, CP Stapleton, ... American journal of nephrology 51 (1), 43-53, 2020 | 23 | 2020 |
| The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project EAE Elhassan, SL Murray, DM Connaughton, C Kennedy, S Cormican, ... Journal of Nephrology 35 (6), 1655-1665, 2022 | 19 | 2022 |
| The genetic landscape of polycystic kidney disease in Ireland KA Benson, SL Murray, SR Senum, E Elhassan, ET Conlon, C Kennedy, ... European Journal of Human Genetics 29 (5), 827-838, 2021 | 16 | 2021 |
| The role of common genetic variation in presumed monogenic epilepsies C Campbell, C Leu, YCA Feng, S Wolking, C Moreau, C Ellis, S Ganesan, ... EBioMedicine 81, 2022 | 14 | 2022 |
| Development of a genomics module within an epilepsy‐specific electronic health record: Toward genomic medicine in epilepsy care N Delanty, M White, K Benson, M McCormack, S Heavin, E Comerford, ... Epilepsia 60 (8), 1670-1677, 2019 | 10 | 2019 |
| Validation of differentially methylated microRNAs identified from an epigenome-wide association study; Sanger and next generation sequencing approaches LJ Smyth, AP Maxwell, KA Benson, J Kilner, GJ McKay, AJ McKnight BMC Research Notes 11, 1-8, 2018 | 10 | 2018 |
| The genetic basis of asymptomatic codon 8 frame‐shift (HBB:c25_26delAA) β0‐thalassaemia homozygotes Z Jiang, H Luo, S Huang, JJ Farrell, L Davis, R Théberge, KA Benson, ... British journal of haematology 172 (6), 958-965, 2016 | 9 | 2016 |
| Diagnostic utility of genetic testing in patients undergoing renal biopsy KA Benson, SL Murray, R Doyle, B Doyle, AM Dorman, D Sadlier, ... Molecular Case Studies 6 (5), a005462, 2020 | 8 | 2020 |
| the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies. Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney … SR Senum, YSM Li, KA Benson, ... Am J Hum Genet 109 (1), 136-156, 2022 | 5 | 2022 |
| KBG syndrome mimicking genetic generalized epilepsy MJ Murphy, N McSweeney, GL Cavalleri, MT Greally, KA Benson, ... Epilepsy & Behavior Reports 19, 2022 | 5 | 2022 |
| Renal transplant outcomes in patients with autosomal dominant tubulointerstitial kidney disease S Cormican, C Kennedy, DM Connaughton, P O'Kelly, S Murray, M Živná, ... Clinical Transplantation 34 (2), e13783, 2020 | 5 | 2020 |
| Design and implementation of a custom next generation sequencing panel for selected vitamin D associated genes KA Benson, S Chand, AP Maxwell, LJ Smyth, J Kilner, R Borrows, ... BMC Research Notes 10, 1-15, 2017 | 4 | 2017 |
| Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group RJ Schmidt, M Steeves, P Bayrak-Toydemir, KA Benson, BP Coe, ... Genetics in Medicine 26 (3), 101036, 2024 | 3 | 2024 |
gianpiero cavalleriProfessor of Human Genetics, the Royal College of Surgeons in IrelandVerified email at rcsi.ie
