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 | 232 | 2019 |
Control of motoneuron survival by angiogenin D Kieran, J Sebastia, MJ Greenway, MA King, D Connaughton, ... Journal of Neuroscience 28 (52), 14056-14061, 2008 | 201 | 2008 |
Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract AT Van Der Ven, DM Connaughton, H Ityel, N Mann, M Nakayama, ... Journal of the American Society of Nephrology 29 (9), 2348-2361, 2018 | 186 | 2018 |
Whole-exome sequencing enables a precision medicine approach for kidney transplant recipients N Mann, DA Braun, K Amann, W Tan, S Shril, DM Connaughton, ... Journal of the American Society of Nephrology 30 (2), 201-215, 2019 | 134 | 2019 |
Spatial and temporal clustering of anti-glomerular basement membrane disease M Canney, PV O’Hara, CM McEvoy, S Medani, DM Connaughton, ... Clinical Journal of the American Society of Nephrology 11 (8), 1392-1399, 2016 | 118 | 2016 |
Personalized medicine in chronic kidney disease by detection of monogenic mutations DM Connaughton, F Hildebrandt Nephrology Dialysis Transplantation 35 (3), 390-397, 2020 | 85 | 2020 |
Tacrolimus trough-level variability predicts long-term allograft survival following kidney transplantation JA O’Regan, M Canney, DM Connaughton, P O’Kelly, Y Williams, ... Journal of nephrology 29, 269-276, 2016 | 81 | 2016 |
The irish kidney gene project-prevalence of family history in patients with kidney disease in Ireland DM Connaughton, S Bukhari, P Conlon, E Cassidy, M O'Toole, ... Nephron 130 (4), 293-301, 2015 | 69 | 2015 |
Noninvasive immunohistochemical diagnosis and novel MUC1 mutations causing autosomal dominant tubulointerstitial kidney disease M Živná, K Kidd, A Přistoupilová, V Barešová, M DeFelice, B Blumenstiel, ... Journal of the American Society of Nephrology 29 (9), 2418-2431, 2018 | 57 | 2018 |
The I rish living kidney donor program–why potential donors do not proceed to live kidney donation? DM Connaughton, G Harmon, A Cooney, Y Williams, J O'Regan, D O'Neill, ... Clinical Transplantation 30 (1), 17-25, 2016 | 31 | 2016 |
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 | 28 | 2019 |
Mutations of the transcriptional corepressor ZMYM2 cause syndromic urinary tract malformations DM Connaughton, R Dai, DJ Owen, J Marquez, N Mann, ... The American Journal of Human Genetics 107 (4), 727-742, 2020 | 27 | 2020 |
DAAM2 variants cause nephrotic syndrome via actin dysregulation R Schneider, K Deutsch, GJ Hoeprich, J Marquez, T Hermle, DA Braun, ... The American Journal of Human Genetics 107 (6), 1113-1128, 2020 | 26 | 2020 |
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 | 24 | 2020 |
CAKUT and autonomic dysfunction caused by acetylcholine receptor mutations N Mann, F Kause, EK Henze, A Gharpure, S Shril, DM Connaughton, ... The American Journal of Human Genetics 105 (6), 1286-1293, 2019 | 24 | 2019 |
An exome sequencing study of 10 families with IgA nephropathy CP Stapleton, C Kennedy, NK Fennelly, SL Murray, DM Connaughton, ... Nephron 144 (2), 72-83, 2020 | 23 | 2020 |
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans TM Kitzler, R Schneider, S Kohl, CM Kolvenbach, DM Connaughton, ... Human genetics 138, 1105-1115, 2019 | 21 | 2019 |
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 |
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT S Seltzsam, C Wang, B Zheng, N Mann, DM Connaughton, CHW Wu, ... Genetics in Medicine 24 (2), 307-318, 2022 | 18 | 2022 |
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT) CHW Wu, N Mann, M Nakayama, DM Connaughton, R Dai, ... Genetics in Medicine 22 (10), 1673-1681, 2020 | 18 | 2020 |