| 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 | 89 | 2017 |
| Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease AC Mallawaarachchi, Y Hort, MJ Cowley, MJ McCabe, A Minoche, ... European Journal of Human Genetics 24 (11), 1584-1590, 2016 | 86 | 2016 |
| Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant SA Sandaradura, A Bournazos, A Mallawaarachchi, BB Cummings, ... Human mutation 39 (3), 383-388, 2018 | 53 | 2018 |
| 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 | 49 | 2022 |
| 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 | 47 | 2020 |
| Increased diagnostic yield of spastic paraplegia with or without cerebellar ataxia through whole-genome sequencing A Kim, KR Kumar, RL Davis, AC Mallawaarachchi, V Gayevskiy, ... The Cerebellum 18, 781-790, 2019 | 35 | 2019 |
| Use of whole-genome sequencing for mitochondrial disease diagnosis RL Davis, KR Kumar, C Puttick, C Liang, KE Ahmad, F Edema-Hildebrand, ... Neurology 99 (7), e730-e742, 2022 | 33 | 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 | 33 | 2021 |
| 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 | 32 | 2020 |
| Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing AC Mallawaarachchi, B Lundie, Y Hort, N Schonrock, SR Senum, ... European Journal of Human Genetics 29 (5), 760-770, 2021 | 29 | 2021 |
| Renal genetics in Australia: kidney medicine in the genomic age K Jayasinghe, C Quinlan, Z Stark, C Patel, A Mallawaarachchi, L Wardrop, ... Nephrology 24 (3), 279-286, 2019 | 25 | 2019 |
| Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity H Cheng, S Capponi, E Wakeling, E Marchi, Q Li, M Zhao, C Weng, ... Human mutation 41 (2), 449-464, 2020 | 24 | 2020 |
| 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 | 23 | 2019 |
| Population data improves variant interpretation in autosomal dominant polycystic kidney disease AC Mallawaarachchi, TJ Furlong, J Shine, PC Harris, MJ Cowley Genetics in medicine 21 (6), 1425-1434, 2019 | 17 | 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 | 15 | 2021 |
| Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms KR Kumar, G Wali, RL Davis, AC Mallawaarachchi, EE Palmer, ... Molecular Genetics and Metabolism Reports 16, 46-51, 2018 | 13 | 2018 |
| Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency H Morales-Briceño, FCF Chang, C Wong, A Mallawaarachchi, N Wolfe, ... Neurology 92 (2), 94-97, 2019 | 12 | 2019 |
| 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 | 9 | 2023 |
| Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol K Jayasinghe, Z Stark, C Patel, A Mallawaarachchi, H McCarthy, R Faull, ... BMJ open 9 (8), e029541, 2019 | 7 | 2019 |
| Australasian Consortium for RNA Diagnostics. 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, ... Genet Med 24 (1), 130-45, 2022 | 6 | 2022 |
