Patient-iPSC-derived kidney organoids show functional validation of a ciliopathic renal phenotype and reveal underlying pathogenetic mechanisms TA Forbes, SE Howden, K Lawlor, B Phipson, J Maksimovic, L Hale, ... The American Journal of Human Genetics 102 (5), 816-831, 2018 | 182 | 2018 |
Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms TA Forbes, SE Howden, K Lawlor, B Phipson, J Maksimovic, L Hale, ... The American Journal of Human Genetics 102 (5), 816-831, 2018 | 182 | 2018 |
Genome-wide association study of medication-use and associated disease in the UK Biobank Y Wu, EM Byrne, Z Zheng, KE Kemper, L Yengo, AJ Mallett, J Yang, ... Nature communications 10 (1), 1891, 2019 | 176 | 2019 |
Ciliopathies and the kidney: A review DJ McConnachie, JL Stow, AJ Mallett American Journal of Kidney Diseases 77 (3), 410-419, 2021 | 167 | 2021 |
Treatment and long-term outcome in primary distal renal tubular acidosis SC Lopez-Garcia, F Emma, SB Walsh, M Fila, N Hooman, M Zaniew, ... Nephrology Dialysis Transplantation 34 (6), 981-991, 2019 | 102 | 2019 |
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 | 90 | 2017 |
Clinical impact of genomic testing in patients with suspected monogenic kidney disease K Jayasinghe, Z Stark, PG Kerr, C Gaff, M Martyn, J Whitlam, B Creighton, ... Genetics in Medicine 23 (1), 183-191, 2021 | 83 | 2021 |
The prevalence and epidemiology of genetic renal disease amongst adults with chronic kidney disease in Australia A Mallett, C Patel, A Salisbury, Z Wang, H Healy, W Hoy Orphanet Journal of Rare Diseases 9, 1-9, 2014 | 79 | 2014 |
Mutations in mitochondrial DNA causing tubulointerstitial kidney disease. TM Connor, S Hoer, A Mallett, DP Gale, A Gomez-Duran, V Posse, ... PLoS genetics 13 (3), e1006620, 2017 | 66 | 2017 |
End-stage kidney disease due to Alport syndrome: outcomes in 296 consecutive Australia and New Zealand Dialysis and Transplant Registry cases A Mallett, W Tang, PA Clayton, S Stevenson, SP McDonald, CM Hawley, ... Nephrology Dialysis Transplantation 29 (12), 2277-2286, 2014 | 61 | 2014 |
Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease VT Huynh, MP Audrézet, JA Sayer, AC Ong, S Lefevre, V Le Brun, ... Kidney international 98 (2), 476-487, 2020 | 48 | 2020 |
Genetics in chronic kidney disease: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference A Köttgen, E Cornec-Le Gall, J Halbritter, K Kiryluk, AJ Mallett, RS Parekh, ... Kidney International 101 (6), 1126-1141, 2022 | 46 | 2022 |
KHA‐CARI guideline recommendations for the diagnosis and management of autosomal dominant polycystic kidney disease GK Rangan, SI Alexander, KL Campbell, MAJ Dexter, VW Lee, ... Nephrology 21 (8), 705-716, 2016 | 46 | 2016 |
Identifying and integrating consumer perspectives in clinical practice guidelines on autosomal‐dominant polycystic kidney disease A Tong, DJ Tunnicliffe, P Lopez‐Vargas, A Mallett, C Patel, J Savige, ... Nephrology 21 (2), 122-132, 2016 | 46 | 2016 |
Identifying And Integrating Consumer Perspectives In Clinical Practice Guidelines On Autosomal Dominant Polycystic Kidney Disease DJ Tunnicliffe, A Tong, P Lopez-Vargas, A Mallett, C Patel, J Savige, ... Nephrology 20, 51-52, 2015 | 46* | 2015 |
Identifying and Integrating Consumer Perspectives in clinical practice guidelines on Autosomal Dominant Polycystic Kidney Disease D.J. Tunnicliffe, A. Tong, P. Lopez-Vargas, A. Mallett, C. Patel, J. Savige ... Nephrology 20 (S3), 51, 2015 | 46* | 2015 |
Parental health spillover effects of paediatric rare genetic conditions Y Wu, H Al-Janabi, A Mallett, C Quinlan, IE Scheffer, KB Howell, ... Quality of Life Research 29, 2445-2454, 2020 | 41 | 2020 |
A multidisciplinary renal genetics clinic improves patient diagnosis A Mallett, LF Fowles, J McGaughran, H Healy, C Patel The Medical journal of Australia 204 (2), 58-59, 2016 | 37 | 2016 |
Gitelman-like syndrome caused by pathogenic variants in mtDNA D Viering, KP Schlingmann, M Hureaux, T Nijenhuis, A Mallett, ... Journal of the American Society of Nephrology 33 (2), 305-325, 2022 | 36 | 2022 |
Attitudes and practices of Australian nephrologists toward implementation of clinical genomics K Jayasinghe, C Quinlan, AJ Mallett, PG Kerr, B McClaren, A Nisselle, ... Kidney international reports 6 (2), 272-283, 2021 | 34 | 2021 |