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 | 310 | 2017 |
Clinical practice: Diagnosis and management of Henoch–Schönlein purpura HJ McCarthy, EJ Tizard European journal of pediatrics 169, 643-650, 2010 | 277 | 2010 |
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 | 218 | 2013 |
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 | 133 | 2015 |
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 | 129 | 2014 |
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 | 101 | 2017 |
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 | 94 | 2013 |
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 | 75 | 2017 |
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 | 62 | 2022 |
Genetics in clinical practice: nephrotic and proteinuric syndromes HJ McCarthy, MA Saleem Nephron Experimental Nephrology 118 (1), e1-e8, 2010 | 39 | 2010 |
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 | 35 | 2020 |
Steroid sensitive nephrotic syndrome EM Hodson, D Hahn, SI Alexander, N Graf, H McCarthy Pediatric Kidney Disease, 405-442, 2023 | 32 | 2023 |
A working partnership: a review of shared decision‐making in nephrology N Amir, HJ McCarthy, A Tong Nephrology 26 (11), 851-857, 2021 | 30 | 2021 |
A clinical approach to tubulopathies in children and young adults R Kermond, A Mallett, H McCarthy Pediatric Nephrology 38 (3), 651-662, 2023 | 25 | 2023 |
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 | 25 | 2019 |
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 | 21 | 2021 |
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 | 20 | 2023 |
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 | 20 | 2023 |
Qualitative research in nephrology: an introduction to methods and critical appraisal N Amir, HJ McCarthy, A Tong Kidney360 2 (4), 737-741, 2021 | 20 | 2021 |
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 | 19 | 2022 |