Wu, You, Jayasinghe, Kushani, Stark, Zornitza, Quinlan, Catherine, Patel, Chirag, Mccarthy, Hugh, Mallawaarachchi, Amali C., Kerr, Peter G., Alexander, Stephen I., Mallett, Andrew J., and Goranitis, Ilias (2024) Response to Lombardi and Mesnard. Genetics in Medicine, 26 (1). 100989.

Wu, You, Jayasinghe, Kushani, Stark, Zornitza, Quinlan, Catherine, Patel, Chirag, McCarthy, Hugh, Mallawaarachchi, Amali C., Kerr, Peter G., Alexander, Stephen, Mallett, Andrew J., Goranitis, Ilias, and The KidGen Collaborative investigators (2023) Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation. Genetics in Medicine, 25 (11). 100942.

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, Bennetts, Bruce, Alexander, Stephen I., and McCarthy, Hugh J. (2021) Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families. npj Genomic Medicine, 6. 20.

Jones, Lynelle K., Lam, Rachel, McKee, Karen K., Aleksandrova, Maya, Dowling, John, Alexander, Stephen I., Mallawaarachchi, Amali, Cottle, Denny L., Short, Kieran M., Pais, Lynn, Miner, Jeffery H., Mallett, Andrew, Simons, Cas, McCarthy, Hugh, Yurchenco, Peter D., and Smyth, Ian M. (2020) A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder. Development, 147 (21). dev189183.

Mallett, Andrew J., McCarthy, Hugh J., Ho, Gladys, Holman, Katherine, Farnsworth, Elizabeth, Patel, Chirag, Fletcher, Jeffery T., Mallawaarachchi, Amali, Quinlan, Catherine, Bennetts, Bruce, and Alexander, Stephen I. (2017) Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders. Kidney International, 92. pp. 1493-1506.

Tong, A., Tunnicliffe, David J., Lopez-Vargas, Pamela, Mallett, Andrew, Patel, Chirag, Savige, Judy, Campbell, Katrina, Patel, Manish, Tchan, Michel C., Alexander, Stephen I., Lee, Vincent, Craig, Jonathan C., Fassett, Robert, and Rangan, Gopala K. (2016) Identifying and integrating consumer perspectives in clinical practice guidelines on autosomal-dominant polycystic kidney disease. Nephrology, 21 (2). pp. 122-32.

Ellyard, Julia I., Jerjen, Rebekka, Martin, Jaime L., Lee, Adrian Y.S., Field, Matthew A., Jiang, Simon H., Cappello, Jean, Naumann, Svenja K., Andrews, T. Daniel, Scott, Hamish S., Casarotto, Marco G., Goodnow, Christopher C., Chaitow, Jeffrey, Pascual, Virginia, Hertzog, Paul, Alexander, Stephen I., Cook, Matthew C., and Vinuesa, Carola G. (2014) Identification of a pathogenic variant in TREX1 in early-onset cerebral systemic lupus erythematosus by whole-exome sequencing. Arthritis & Rheumatism, 66 (12). pp. 3382-3386.