Követés
Hugh McCarthy
Cím
Hivatkozott rá
Hivatkozott rá
Év
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management
A Bierzynska, HJ McCarthy, K Soderquest, ES Sen, E Colby, WY Ding, ...
Kidney international 91 (4), 937-947, 2017
3102017
Clinical practice: Diagnosis and management of Henoch–Schönlein purpura
HJ McCarthy, EJ Tizard
European journal of pediatrics 169, 643-650, 2010
2772010
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome
HJ McCarthy, A Bierzynska, M Wherlock, M Ognjanovic, L Kerecuk, ...
Clinical Journal of the American Society of Nephrology 8 (4), 637-648, 2013
2182013
Defects of CRB2 cause steroid-resistant nephrotic syndrome
L Ebarasi, S Ashraf, A Bierzynska, HY Gee, HJ McCarthy, S Lovric, ...
The American Journal of Human Genetics 96 (1), 153-161, 2015
1332015
Initial steroid sensitivity in children with steroid-resistant nephrotic syndrome predicts post-transplant recurrence
WY Ding, A Koziell, HJ McCarthy, A Bierzynska, MK Bhagavatula, ...
Journal of the American Society of Nephrology 25 (6), 1342-1348, 2014
1292014
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders
AJ Mallett, HJ McCarthy, G Ho, K Holman, E Farnsworth, C Patel, ...
Kidney international 92 (6), 1493-1506, 2017
1012017
Active proteases in nephrotic plasma lead to a podocin‐dependent phosphorylation of VASP in podocytes via protease activated receptor‐1
JJ Harris, HJ McCarthy, L Ni, M Wherlock, HG Kang, JF Wetzels, GI Welsh, ...
The Journal of pathology 229 (5), 660-671, 2013
942013
MAGI2 mutations cause congenital nephrotic syndrome
A Bierzynska, K Soderquest, P Dean, E Colby, R Rollason, C Jones, ...
Journal of the American Society of Nephrology 28 (5), 1614-1621, 2017
752017
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
AM Bournazos, LG Riley, S Bommireddipalli, L Ades, LS Akesson, ...
Genetics in Medicine 24 (1), 130-145, 2022
622022
Genetics in clinical practice: nephrotic and proteinuric syndromes
HJ McCarthy, MA Saleem
Nephron Experimental Nephrology 118 (1), e1-e8, 2010
392010
A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder
LK Jones, R Lam, KK McKee, M Aleksandrova, J Dowling, SI Alexander, ...
Development 147 (21), dev189183, 2020
352020
Steroid sensitive nephrotic syndrome
EM Hodson, D Hahn, SI Alexander, N Graf, H McCarthy
Pediatric Kidney Disease, 405-442, 2023
322023
A working partnership: a review of shared decision‐making in nephrology
N Amir, HJ McCarthy, A Tong
Nephrology 26 (11), 851-857, 2021
302021
A clinical approach to tubulopathies in children and young adults
R Kermond, A Mallett, H McCarthy
Pediatric Nephrology 38 (3), 651-662, 2023
252023
ADPedKD: a global online platform on the management of children with ADPKD
S De Rechter, D Bockenhauer, LM Guay-Woodford, I Liu, AJ Mallett, ...
Kidney international reports 4 (9), 1271-1284, 2019
252019
Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families
HA Tanudisastro, K Holman, G Ho, E Farnsworth, K Fisk, T Gayagay, ...
NPJ genomic medicine 6 (1), 20, 2021
212021
Genomic testing for suspected monogenic kidney disease in children and adults: a health economic evaluation
Y Wu, K Jayasinghe, Z Stark, C Quinlan, C Patel, H McCarthy, ...
Genetics in Medicine 25 (11), 100942, 2023
202023
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant
ET Hoorntje, C Burns, L Marsili, B Corden, VN Parikh, GJ Te Meerman, ...
Circulation: Genomic and Precision Medicine 16 (1), e003672, 2023
202023
Qualitative research in nephrology: an introduction to methods and critical appraisal
N Amir, HJ McCarthy, A Tong
Kidney360 2 (4), 737-741, 2021
202021
Membranous nephropathy: clearer pathology and mechanisms identify potential strategies for treatment
EYM Chung, YM Wang, K Keung, M Hu, H McCarthy, G Wong, L Kairaitis, ...
Frontiers in Immunology 13, 1036249, 2022
192022
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Cikkek 1–20