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Dervla M Connaughton
Dervla M Connaughton
London Health Sciences Centre
在 lhsc.on.ca 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
2322019
Control of motoneuron survival by angiogenin
D Kieran, J Sebastia, MJ Greenway, MA King, D Connaughton, ...
Journal of Neuroscience 28 (52), 14056-14061, 2008
2012008
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
1862018
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
1342019
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
1182016
Personalized medicine in chronic kidney disease by detection of monogenic mutations
DM Connaughton, F Hildebrandt
Nephrology Dialysis Transplantation 35 (3), 390-397, 2020
852020
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
812016
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
692015
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
572018
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
312016
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
282019
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
272020
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
262020
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
242020
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
242019
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
232020
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
212019
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
192022
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
182022
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
182020
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