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Hugh McCarthy
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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
2742017
Clinical practice: Diagnosis and management of Henoch–Schönlein purpura
HJ McCarthy, EJ Tizard
European journal of pediatrics 169, 643-650, 2010
2622010
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
2142013
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
1302015
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
1202014
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
882017
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
852013
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
692017
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
492022
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
322020
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
232019
NAV-KIDS2 trial: protocol for a multi-centre, staggered randomised controlled trial of a patient navigator intervention in children with chronic kidney disease
A Van Zwieten, P Caldwell, K Howard, A Tong, JC Craig, S Alexander, ...
BMC nephrology 20, 1-9, 2019
172019
Treatment of recurrent focal segmental glomerulosclerosis post‐kidney transplantation in Australian and New Zealand children: A retrospective cohort study
A Francis, M Didsbury, H McCarthy, T Kara
Pediatric transplantation 22 (5), e13185, 2018
162018
A working partnership: a review of shared decision‐making in nephrology
N Amir, HJ McCarthy, A Tong
Nephrology 26 (11), 851-857, 2021
152021
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
142021
Genomics in the renal clinic-translating nephrogenetics for clinical practice
A Mallett, C Corney, H McCarthy, SI Alexander, H Healy
Human Genomics 9, 1-4, 2015
132015
A clinical approach to tubulopathies in children and young adults
R Kermond, A Mallett, H McCarthy
Pediatric Nephrology 38 (3), 651-662, 2023
122023
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
122023
Red cell exchange transfusion as a rescue therapy for tacrolimus toxicity in a paediatric renal transplant
H McCarthy, C Inward, S Marriage, P Astley, EJ Tizard
Pediatric Nephrology 26, 2245-2248, 2011
112011
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Articles 1–20