Novel complement factor H gene mutation causing atypical haemolytic uraemic syndrome: early Eculizumab prevents acute dialysis

por Collett, James, Mallawaarachchi, Amali, Fischer, Eddy, Komala, Muralikrishna Gangadharan, Sud, Kamal, Bose, Bhadran
Publicado 2017

Renal genetics in Australia: Kidney medicine in the genomic age

por Jayasinghe, Kushani, Quinlan, Catherine, Stark, Zornitza, Patel, Chirag, Mallawaarachchi, Amali, Wardrop, Louise, Kerr, Peter G, Trnka, Peter, Mallett, Andrew J
Publicado 2018

Participant Choice towards Receiving Potential Additional Findings in an Australian Nephrology Research Genomics Study

por O’Shea, Rosie, Wood, Alasdair, Patel, Chirag, McCarthy, Hugh J., Mallawaarachchi, Amali, Quinlan, Catherine, Simons, Cas, Stark, Zornitza, Mallett, Andrew J.
Publicado 2022

The HIDDEN Protocol: An Australian Prospective Cohort Study to Determine the Utility of Whole Genome Sequencing in Kidney Failure of Unknown Aetiology

por Soraru, Jacqueline, Jahan, Sadia, Quinlan, Catherine, Simons, Cas, Wardrop, Louise, O’Shea, Rosie, Wood, Alasdair, Mallawaarachchi, Amali, Patel, Chirag, Stark, Zornitza, Mallett, Andrew John
Publicado 2022

Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics

por Jayasinghe, Kushani, Quinlan, Catherine, Mallett, Andrew J., Kerr, Peter G., McClaren, Belinda, Nisselle, Amy, Mallawaarachchi, Amali, Polkinghorne, Kevan R., Patel, Chirag, Best, Stephanie, Stark, Zornitza
Publicado 2020

Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD

por Hort, Yvonne, Sullivan, Patricia, Wedd, Laura, Fowles, Lindsay, Stevanovski, Igor, Deveson, Ira, Simons, Cas, Mallett, Andrew, Patel, Chirag, Furlong, Timothy, Cowley, Mark J., Shine, John, Mallawaarachchi, Amali
Publicado 2023

Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms

por Kumar, Kishore R., Wali, Gautam, Davis, Ryan L., Mallawaarachchi, Amali C., Palmer, Elizabeth E., Gayevskiy, Velimir, Minoche, Andre E., Veivers, David, Dinger, Marcel E., Mackay-Sim, Alan, Cowley, Mark J., Sue, Carolyn M.
Publicado 2018

Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol

por Jayasinghe, Kushani, Stark, Zornitza, Patel, Chirag, Mallawaarachchi, Amali, McCarthy, Hugh, Faull, Randall, Chakera, Aron, Sundaram, Madhivanan, Jose, Matthew, Kerr, Peter, Wu, You, Wardrop, Louise, Goranitis, Ilias, Best, Stephanie, Martyn, Melissa, Quinlan, Catherine, Mallett, Andrew J
Publicado 2019

Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families

por Tanudisastro, Hope A., Holman, Katherine, Ho, Gladys, Farnsworth, Elizabeth, Fisk, Katrina, Gayagay, Thet, Hackett, Emma, Jenkins, Gemma, Krishnaraj, Rahul, Lai, Tiffany, Wong, Karen, Patel, Chirag, Mallawaarachchi, Amali, Mallett, Andrew J., Bennetts, Bruce, Alexander, Stephen I., McCarthy, Hugh J.
Publicado 2021

Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis

por Davis, Ryan L., Kumar, Kishore R., Puttick, Clare, Liang, Christina, Ahmad, Kate E., Edema-Hildebrand, Fabienne, Park, Jin-Sung, Minoche, Andre E., Gayevskiy, Velimir, Mallawaarachchi, Amali C., Christodoulou, John, Schofield, Deborah, Dinger, Marcel E., Cowley, Mark J., Sue, Carolyn M.
Publicado 2022

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications

por Sullivan, Patricia J., Gayevskiy, Velimir, Davis, Ryan L., Wong, Marie, Mayoh, Chelsea, Mallawaarachchi, Amali, Hort, Yvonne, McCabe, Mark J., Beecroft, Sarah, Jackson, Matilda R., Arts, Peer, Dubowsky, Andrew, Laing, Nigel, Dinger, Marcel E., Scott, Hamish S., Oates, Emily, Pinese, Mark, Cowley, Mark J.
Publicado 2023