Article

Oehler, Josphine B., Wright, Helen, Stark, Zornitza, Mallett, Andrew, and Schmitz, Ulf (2023) The application of long‑read sequencing in clinical settings. Human Genomics, 17. 73.

Biancolella, Michela, Colona, Vito Luigi, Mehrian-Shai, Ruty, Watt, Jessica Lee, Luzzatto, Lucio, Novelli, Giuseppe, and Reichardt, Juergen K. V. (2022) COVID-19 2022 update: transition of the pandemic to the endemic phase. Human Genomics, 16. 19.

Jayasinghe, Kushani, Quinlan, Catherine, Mallett, Andrew, Kerr, Peter G., McClaren, Belinda, Nisselle, Amy, Mallawaarachchi, Amali, Polkinghorne, Kevan R., Patel, Chirag, Best, Stephanie, and Stark, Zornitza (2021) Attitudes and practices of Australian nephrologists toward implementation of clinical genomics. Kidney International Reports, 6 (2). pp. 272-283.

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.

Al-Shinnag, Mohammad, Marfan, Helen, Susman, Rachel, Wakeling, Jan, Gustafson, Sonja, Wood, Simon, and Mallett, Andrew John (2021) Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing Syndromes. Frontiers in Oncology, 11. 738822.

McConnachie, Dominique J., Stow, Jennifer, and Mallett, Andrew (2021) Ciliopathies and the kidney: a review. American Journal of Kidney Diseases, 77 (3). pp. 410-419.

Ng, Monica S., Malacova, Eva, Hurst, Cameron, Johnson, David W., and Mallett, Andrew (2021) Clinical Outcomes of People With Fabry Disease — ANZDATA Registry Study. Kidney International Reports, 6 (9). pp. 2481-2485.

Jayasinghe, Kushani, Stark, Zornitza, Kerr, Peter G., Gaff, Clara, Martyn, Melissa, Whitlam, John, Creighton, Belinda, Donaldson, Elizabeth, Hunter, Matthew, Jarmolowicz, Anna, Johnstone, Lilian, Krzesinski, Emma, Lunke, Sebastian, Lynch, Elly, Nicholls, Kathleen, Patel, Chirag, Prawer, Yael, Ryan, Jessica, See, Emily J., Talbot, Andrew, Trainer, Alison, Tytherleigh, Rigan, Valente, Giulia, Wallis, Mathew, Wardrop, Louise, West, Kirsty H., White, Susan M., Wilkins, Ella, Mallett, Andrew, and Quinlan, Catherine (2021) Clinical impact of genomic testing in patients with suspected monogenic kidney disease. Genetics in Medicine, 23 (1). pp. 183-191.

Nisselle, Amy, Janinski, Monika, Martyn, Melissa, McClaren, Belinda, Kaunein, Nadia, Maguire, Jane, Riggs, Erin Rooney, Barlow-Stewart, Kristine, Belcher, Andrea, Bernat, John A., Best, Stephanie, Bishop, Michelle, Carroll, June C., Cornel, Martina, Dissanayake, Vajira H.W., Dodds, Agnes, Dunlop, Kate, Garg, Gunjan, Gear, Russell, Graves, Debra, Knight, Ken, Korf, Bruce, Kumar, Dhavendra, Laurino, Mercy, Ma, Alan, Mallett, Andrew, McCarthy, Maria, McEwen, Alison, Mulder, Nicola, Patel, Chirag, Quinlan, Catherine, Reed, Kate, Sinnerbrink, Ingrid, Slavotinek, Anne, Suppiah, Vijayaprakash, Terrill, Bronwyn, Tobias, Edward S., Tonkin, Emma, Trumble, Steve, Wessels, Tina-Marie, Metcalfe, Sylvia, Jordan, Helen, and Gaff, Clara (2021) Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics). Genetics in Medicine, 23 (7). pp. 1356-1365.

Tran, Ngan K., Lea, Rodney A., Holland, Samuel, Nguyen, Quan, Raghubar, Arti M., Sutherland, Heidi G., Benton, Miles C., Haupt, Larisa M., Blackburn, Nicholas B., Curran, Joanne E., Blangero, John, Mallett, Andrew, and Griffiths, Lyn R. (2021) Multi-phenotype genome-wide association studies of the Norfolk Island isolate implicate pleiotropic loci involved in chronic kidney disease. Scientific Reports, 11. 19425.

Gately, Ryan, Lock, Gregory, Patel, Chirag, Clouston, John, Hawley, Carmel, and Mallett, Andrew (2021) Multiple cerebral aneurysms in an adult with autosomal recessive polycystic kidney disease. Kidney International Reports, 6 (1). pp. 219-223.

Mallett, Andrew J., Perrone, Ronald D., Rangan, Gopala, Hawley, Carmel, El-Damanawi, Ragada, Hiemstra, Thomas F., Townsend Arellano, Carolina, Lee, Jennifer, and Torres, Vicente E. (2021) Per-treatment post-hoc analysis of clinical trial outcomes with Tolvaptan in autosomal dominant polycystic kidney disease. Kidney International Reports, 6. pp. 1032-1040.

Ng, Monica S.Y., Ullah, Shahid, Wilson, Gregory, McDonald, Stephen, Sypek, Matthew, and Mallett, Andrew J. (2020) ABO blood group relationships to kidney transplant recipient and graft outcomes. PLoS ONE, 15 (7). e0236396.

Hudson, Rebecca, Patel, Chirag, Hawley, Carmel M., O’Shea, Stacey, Snelling, Paul, Ho, Gladys, Holman, Katherine, Bennetts, Bruce, Crawford, Joanna, Francis, Leo, Simons, Cas, and Mallett, Andrew (2020) Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants. American Journal of Kidney Diseases, 76 (2). pp. 282-287.

Mallett, Andrew, Kearey, Phoebe, Cameron, Anne, Healy, Helen, Denaro, Charles, Thomas, Mark, Lee, Vincent W., Stark, Samantha, Fuller, Maria, and Hoy, Wendy E. (2020) The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia. BMC Nephrology, 21. 58.

Jones, Scott A., Hegerty, Katharine, Scuderi, Carla, Eglington, Jessica, Green, Ben, and Mallett, Andrew (2020) Clinical and healthcare utilization outcomes of parathyroidectomy in CKD and dialysis patients. Kidney International Reports, 5 (7). pp. 1086-1089.

Huynh, Vinh T., Audrézet, Marie-Pierre, Sayer, John A., Ong, Albert C., Lefevre, Siriane, Le Brun, Valoris, Després, Aurore, Senum, Sarah R., Chebib, Fouad T., Barroso-Gil, Miguel, Patel, Chirag, Mallett, Andrew, Goel, Himanshu, Mallawaarachchi, Amali C., Van Eerde, Albertien M., Ponlot, Eléonore, Kribs, Marc, Le Meur, Yannick, Harris, Peter C., and Cornec-Le Gall, Emilie (2020) Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease. Kidney International, 98 (2). pp. 476-487.

Wilson, Gregory J., Wood, Simon, Patel, Chirag, Oliver, Kimberley, John, George, Ranganathan, Dwarakanathan, Mallett, Andrew, and Isbel, Nicole (2020) DNAJB11-Related Atypical ADPKD in a Kidney Transplant Donor. Kidney International Reports, 5 (8). pp. 1363-1366.

Gale, Daniel P., Mallett, Andrew, Patel, Chirag, Sneddon, Tam P., Rehm, Heidi L., Sampson, Matthew G., and Bockenhauer, Detlef (2020) Diagnoses of uncertain significance: kidney genetics in the 21st century. Nature Reviews Nephrology, 16. pp. 616-618.

Brailsford, Gabrielle, Cash, Ellie, Burke, Jo, Kirkland, Geoff, Wallis, Mathew, Mallett, Andrew, and Jose, Matthew D. (2020) Genetic kidney disease in Southern Tasmania. Kidney International Reports, 5 (4). pp. 534-537.

Jeyaruban, Andrew, Hoy, Wendy, Cameron, Anne, Healy, Helen, Wang, Zaimin, Zhang, Jianzhen, and Mallett, Andrew (2020) Impact of cardiovascular events on mortality and progression of renal dysfunction in a Queensland CKD cohort. Nephrology, 25 (11). pp. 839-844.

Scuderi, Carla E., Parker, Suzanne L., Jacks, Margaret, John, George, McWhinney, Brett, Ungerer, Jacobus, Mallett, Andrew, Roberts, Jason A., Healy, Helen, and Staatz, Christine E. (2020) Kidney transplant recipient's perceptions of blood testing through microsampling and venepuncture. Bioanalysis, 12 (13). pp. 873-881.

Wu, You, Al-Janabi, Hareth, Mallett, Andrew, Quinlan, Catherine, Scheffer, Ingrid E., Howell, Katherine B., Christodoulou, John, Leventer, Richard J., Lockhart, Paul J., Stark, Zornitza, Boughtwood, Tiffany, and Goranitis, Ilias (2020) Parental health spillover effects of paediatric rare genetic conditions. Quality of Life Research, 29. pp. 2445-2454.

Chan, Samuel, Patel, Chirag, and Mallett, Andrew (2020) Pilot clinical and validation study of the PROPKD score in clinical practice amongst patients with Autosomal Dominant Polycystic Kidney Disease. Nephrology, 25 (2). pp. 274-275.

Jahan, Sadia, Sarathchandran, Subashini, Akhter, Shamina, Goldblatt, Jack, Stark, Samantha, Crawford, Douglas, Mallett, Andrew, and Thomas, Mark (2020) Prevalence of Fabry disease in dialysis patients: Western Australia Fabry disease screening study - the FoRWARD study. Orphanet Journal of Rare Diseases, 15. 10.

De Rechter, Stéphanie, Bockenhauer, Detlef, Guay-Woodford, Lisa M., Liu, Isaac, Mallett, Andrew, Soliman, Neveen A., Sylvestre, Lucimary C., Schaefer, Franz, Liebau, Max C., Mekahli, Djalila, and ADPedKD Consortium (2019) ADPedKD: a global online platform on the management of children with ADPKD. Kidney International Reports, 4 (9). pp. 1271-1284.

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, and Mallett, Andrew J. (2019) Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol. BMJ Open, 9. e029541.

Nelson, Anna Clare, Motum, Penelope Irene, and Emeto, Theophilus I. (2019) Evaluation of an immunochromatographic test for alpha thalassaemia screening in a multi‐ethnic population. International Journal of Laboratory Hematology, 41 (3). pp. 397-403.

Foo, Jerome C., Streit, Fabian, Frank, Josef, Witt, Stephanie H., Treutlein, Jens, Baune, Bernhard T., Moebus, Susanne, Joeckel, Karl-Heinz, Forstner, Andreas J., Noethen, Markus M., Rietschel, Marcella, Sartorius, Alexander, Kranaster, Laura, Wray, Naomi R., Ripke, Stephan, Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Adams, Mark J., Agerbo, Esben, Air, Tracy M., Andlauer, Till F. M., Bacanu, Silviu-Alin, Baekvad-Hansen, Marie, Beekman, Aartjan T. F., Bigdeli, Tim B., Binder, Elisabeth B., Blackwood, Douglas H. R., Bryois, Julien, Buttenschon, Henriette N., Bybjerg-Grauholm, Jonas, Cai, Na, Castelao, Enrique, Christensen, Jane Hvarregaard, Clarke, Toni-Kim, Coleman, Jonathan R. I., Colodro-Conde, Lucia, Couvy-Duchesne, Baptiste, Craddock, Nick, Crawford, Gregory E., Davies, Gail, Deary, Ian J., Degenhardt, Franziska, Derks, Eske M., Direk, Nese, Dolan, Conor V., Dunn, Erin C., Eley, Thalia C., Escott-Price, Valentina, Kiadeh, Farnush Farhadi Hassan, Finucane, Hilary K., Gaspar, Helena A., Gill, Michael, Goes, Fernando S., Gordon, Scott D., Grove, Jakob, Hall, Lynsey S., Hansen, Christine Soholm, Hansen, Thomas F., Herms, Stefan, Hickie, Ian B., Hoffmann, Per, Homuth, Georg, Horn, Carsten, Hottenga, Jouke-Jan, Hougaard, David M., Ising, Marcus, Jansen, Rick, Jones, Ian, Jones, Lisa A., Jorgenson, Eric, Knowles, James A., Kohane, Isaac S., Kraft, Julia, Kretzschmar, Warren W., Krogh, Jesper, Kutalik, Zoltan, Li, Yihan, Lind, Penelope A., MacIntyre, Donald J., MacKinnon, Dean F., Maier, Robert M., Maier, Wolfgang, Marchini, Jonathan, Mbarek, Hamdi, McGrath, Patrick, McGuffin, Peter, Medland, Sarah E., Mehta, Divya, Middeldorp, Christel M., Mihailov, Evelin, Milaneschi, Yuri, Milani, Lili, Mondimore, Francis M., Montgomery, Grant W., Mostafavi, Sara, Mullins, Niamh, Nauck, Matthias, Ng, Bernard, Nivard, Michel G., Nyholt, Dale R., O'Reilly, Paul F., Oskarsson, Hogni, Owen, Michael J., Painter, Jodie N., Pedersen, Carsten Bocker, Pedersen, Marianne Giortz, Peterson, Roseann E., Pettersson, Erik, Peyrot, Wouter J., Pistis, Giorgio, Posthuma, Danielle, Quiroz, Jorge A., Qvist, Per, Rice, John P., Riley, Brien P., Rivera, Margarita, Mirza, Saira Saeed, Schoevers, Robert, Schulte, Eva C., Shen, Ling, Shi, Jianxin, Shyn, Stanley I., Sigurdsson, Engilbert, Sinnamon, Grant C. B., Smit, Johannes H., Smith, Daniel J., Stefansson, Hreinn, Steinberg, Stacy, Strohmaier, Jana, Tansey, Katherine E., Teismann, Henning, Teumer, Alexander, Thompson, Wesley, Thomson, Pippa A., Thorgeirsson, Thorgeir E., Traylor, Matthew, Trubetskoy, Vassily, Uitterlinden, Andre G., Umbricht, Daniel, Van der Auwera, Sandra, van Hemert, Albert M., Viktorin, Alexander, Visscher, Peter M., Wang, Yunpeng, Webb, Bradley T., Weinsheimer, Shantel Marie, Wellmann, Jurgen, Willemsen, Gonneke, Wu, Yang, Xi, Hualin S., Yang, Jian, Zhang, Futao, Arolt, Volker, Berger, Klaus, Boomsma, Dorret I., Cichon, Sven, Dannlowski, Udo, de Geus, E. J. C., DePaulo, J. Raymond, Domenici, Enrico, Domschke, Katharina, Esko, Tonu, Grabe, Hans J., Hamilton, Steven P., Hayward, Caroline, Heath, Andrew C., Kendler, Kenneth S., Kloiber, Stefan, Lewis, Glyn, Li, Qingqin S., Lucae, Susanne, Madden, Pamela A. F., Magnusson, Patrik K., Martin, Nicholas G., McIntosh, Andrew M., Metspalu, Andres, Mors, Ole, Mortensen, Preben Bo, Mueller-Myhsok, Bertram, Nordentoft, Merete, O'Donovan, Michael C., Paciga, Sara A., Pedersen, Nancy L., Penninx, Brenda W. J. H., Perlis, Roy H., Porteous, David J., Potash, James B., Preisig, Martin, Schaefer, Catherine, Schulze, Thomas G., Smoller, Jordan W., Stefansson, Kari, Tiemeier, Henning, Uher, Rudolf, Voelzke, Henry, Weissman, Myrna M., Werge, Thomas, Lewis, Cathryn M., Levinson, Douglas F., Breen, Gerome, Borglum, Anders D., and Sullivan, Patrick F. (2019) Evidence for increased genetic risk load for major depression in patients assigned to electroconvulsive therapy. American Journal of Medical Genetics Part B: (Neuropsychiatric Genetics), 180 (1). pp. 35-45.

Wu, Yeda, Byrne, Enda M., Zheng, Zhili, Kemper, Kathryn E., Yengo, Loic, Mallett, Andrew J., Yang, Jian, Visscher, Peter M., and Wray, Naomi R. (2019) Genome-wide association study of medication-use and associated disease in the UK Biobank. Nature Communications, 10. 1891.

Arnau-Soler, Aleix, Macdonald-Dunlop, Erin, Adams, Mark J., Clarke, Toni-Kim, MacIntyre, Donald J., Milburn, Keith, Navrady, Lauren, Hayward, Caroline, McIntosh, Andrew M., Thomson, Pippa A., Wray, Naomi R., Ripke, Stephan, Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Agerbo, Esben, Air, Tracy M., Andlauer, Till F. M., Bacanu, Silviu-Alin, Baekvad-Hansen, Marie, Beekman, Aartjan T. F., Bigdeli, Tim B., Binder, Elisabeth B., Blackwood, Douglas H. R., Bryois, Julien, Buttenscon, Henriette N., Bybjerg-Grauholm, Jonas, Cai, Na, Castelao, Enrique, Christensen, Jane Hvarregaard, Coleman, Jonathan R., Colodro-Conde, Luca, Couvy-Duchesne, Baptiste, Craddock, Nick, Rawford, Gregory E. C., Davies, Gail, Deary, Ian J., Degenhardt, Franziska, Derks, Eske M., Direk, Nese, Dolan, Conor, Dunn, Erin C., Eley, Thalia C., Escott-Price, Valentina, Kiadeh, Farnush Farhadi Hassan, Finucane, Hilary K., Foo, Jerome C., Forstner, Andreas J., Frank, Josef, Gaspar, Helena A., Gill, Michael, Goes, Fernando S., Gordon, Scott D., Grove, Jakob, Hall, Lynsey S., Hansen, Christine Soholm, Hansen, Thomas F., Herms, Stefan, Hickie, Ian B., Hoffmann, Per, Homuth, Georg, Horn, Carsten, Hottenga, Jouke-Jan, Hougaard, David M., Ising, Marcus, Jansen, Rick, Jones, Ian, Jones, Lisa A., Jorgenson, Eric, Knowles, James A., Kohane, Isaac S., Kraft, Julia, Kretzschmar, Warren W., Krogh, Jesper, Kutalik, Zoltan, Li, Yihan, Lind, Penelope A., Macintyre, Donald J., MacKinnon, Dean F., Maier, Robert M., Maier, Wolfgang, Marchini, Jonathan, Mbarek, Hamdi, McGrath, Patrick, McGuffin, Peter, Medland, Sarah E., Mehta, Divya, Middeldorp, Christel M., Mihailov, Evelin, Milaneschi, Yuri, Milani, Lili, Mondimore, Francis M., Montgomery, Grant W., Mostafavi, Sara, Mullins, Niamh, Nauck, Matthias, Ng, Bernard, Nivard, Michel G., Nyholt, Dale R., O'Reilly, Paul F., Oskarsson, Hogni, Owen, Michael J., Painter, Jodie N., Pedersen, Carsten Bocker, Pedersen, Marianne Giortz, Peterson, Roseann E., Pettersson, Erik, Peyrot, Wouter J., Pistis, Giorgio, Posthuma, Danielle, Quiroz, Jorge A., Qvist, Per, Rice, John P., Riley, Brien P., Rivera, Margarita, Mirza, Saira Saeed, Schoevers, Robert, Schulte, Eva C., Shen, Ling, Shi, Jianxin, Shyn, Stanley, Sigurdsson, Engilbert, Sinnamon, Grant C. B., Smit, Johannes H., Smith, Daniel J., Stefansson, Hreinn, Steinberg, Stacy, Streit, Fabian, Strohmaier, Jana, Tansey, Katherine E., Teismann, Henning, Teumer, Alexander, Thompson, Wesley, Thorgeirsson, Thorgeir E., Traylor, Matthew, Treutlein, Jens, Trubetskoy, Vassily, Uitterlinden, Andre G., Umbricht, Daniel, Van der Auwera, Sandra, van Hemert, Albert M., Viktorin, Alexander, Visscher, Peter M., Wang, Yunpeng, Webb, Bradley T., Weinsheimer, Shantel Marie, Wellmann, Juergen, Willemsen, Gonneke, Witt, Stephanie H., Wu, Yang, Xi, Hualin S., Yang, Jian, Zhang, Futao, Arolt, Volker, Baune, Bernhard T., Berger, Klaus, Boomsma, Dorret, Cichon, Sven, Dannlowski, Udo, de Geus, E. J. C., DePaulo, J. Raymond, Domenici, Enrico, Domschke, Katharina, Esko, Tonu, Grabe, Hans J., Hamilton, Steven P., Heath, Andrew C., Kendler, Kenneth S., Kloiber, Stefan, Lewis, Glyn, Li, Qingqin S., Lucae, Susanne, Madden, Pamela A. F., Magnusson, Patrik K., Martin, Nicholas G., Metspalu, Andres, Mors, Ole, Mortensen, Preben Bo, Mueller-Myhsok, Bertram, Nordentoft, Merete, Noethen, Markus M., O'Donovan, Michael C., Paciga, Sara A., Pedersen, Nancy L., Penninx, Brenda W. J. H., Perlis, Roy H., Porteous, David J., Potash, James B., Preisig, Martin, Rietschel, Marcella, Schaefer, Catherine, Schulze, Thomas G., Smoller, Jordan W., Stefansson, Kari, Tiemeier, Henning, Uher, Rudolf, Voelzke, Henry, Weissman, Myrna M., Werge, Thomas, Lewis, Cathryn M., Levinson, Douglas F., Breen, Gerome, Borglum, Ander S. D., and Sullivan, Patrick F. (2019) Genome-wide by environment interaction studies of depressive symptoms and psychosocial stress in UK Biobank and Generation Scotland. Translational Psychiatry, 9. 14.

Grove, Jakob, Ripke, Stephan, Als, Thomas D., Mattheisen, Manuel, Walters, Raymond K., Won, Hyejung, Pallesen, Jonatan, Agerbo, Esben, Andreassen, Ole A., Anney, Richard, Awashti, Swapnil, Belliveau, Rich, Bettella, Francesco, Buxbaum, Joseph D., Bybjerg-Grauholm, Jonas, Baekvad-Hansen, Marie, Cerrato, Felecia, Chambert, Kimberly, Christensen, Jane H., Churchhouse, Claire, Dellenvall, Karin, Demontis, Ditte, De Rubeis, Silvia, Devlin, Bernie, Djurovic, Srdjan, Dumont, Ashley L., Goldstein, Jacqueline, Hansen, Christine S., Hauberg, Mads Engel, Hollegaard, Mads, Hope, Sigrun, Howrigan, Daniel P., Huang, Hailiang, Hultman, Christina M., Klei, Lambertus, Maller, Julian, Martin, Joanna, Martin, Alicia R., Moran, Jennifer L., Nyegaard, Mette, Naerland, Terje, Palmer, Duncan S., Palotie, Aarno, Pedersen, Carsten Bocker, Pedersen, Marianne Giortz, dPoterba, Timothy, Poulsen, Jesper Buchhave, St Pourcain, Beate, Qvist, Per, Rehnstrom, Karola, Reichenberg, Abraham, Reichert, Jennifer, Robinson, Elise B., Roeder, Kathryn, Roussos, Panos, Saemundsen, Evald, Sandin, Sven, Satterstrom, F. Kyle, Smith, George Davey, Stefansson, Hreinn, Steinberg, Stacy, Stevens, Christine R., Sullivan, Patrick F., Turley, Patrick, Walters, G. Bragi, Xu, Xinyi, Stefansson, Kari, Geschwind, Daniel H., Nordentoft, Merete, Hougaard, David M., Werge, Thomas, Mors, Ole, Mortensen, Preben Bo, Neale, Benjamin M., Daly, Mark J., Borglum, Anders D., Wray, Naomi R., Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Adams, Mark J., Air, Tracy M., Andlauer, Till F. M., Bacanu, Silviu-Alin, Beekman, Aartjan T. F., Bigdeli, Tim B., Binder, Elisabeth B., Blackwood, Douglas H. R., Bryois, Julien, Buttenschon, Henriette N., Cai, Na, Castelao, Enrique, Clarke, Toni-Kim, Coleman, Jonathan R., Colodro-Conde, Lucia, Couvy-Duchesne, Baptiste, Craddock, Nick, Crawford, Gregory E., Davies, Gail, Deary, Ian J., Degenhardt, Franziska, Derks, Eske M., Direk, Nese, Dolan, Conor, Dunn, Erin C., Eley, Thalia C., Escott-Price, Valentina, Kiadeh, Farnush Farhadi Hassan, Finucane, Hilary K., Forstner, Andreas J., Frank, Josef, Gaspar, Helena A., Gill, Michael, Goes, Fernando S., Gordon, Scott D., Hall, Lynsey S., Hansen, Thomas F., Herms, Stefan, Hickie, Ian B., Hoffmann, Per, Homuth, Georg, Horn, Carsten, Hottenga, Jouke-Jan, Ising, Marcus, Jansen, Rick, Jorgenson, Eric, Knowles, James A., Kohane, Isaac S., Kraft, Julia, Kretzschmar, Warren W., Krogh, Jesper, Kutalik, Zoltan, Li, Yihan, Lind, Penelope A., MacIntyre, Donald J., MacKinnon, Dean F., Maier, Robert M., Maier, Wolfgang, Marchini, Jonathan, Mbarek, Hamdi, McGrath, Patrick, McGuffin, Peter, Medland, Sarah E., Mehta, Divya, Middeldorp, Christel M., Mihailov, Evelin, Milaneschi, Yuri, Milani, Lili, Mondimore, Francis M., Montgomery, Grant W., Mostafavi, Sara, Mullins, Niamh, Nauck, Matthias, Ng, Bernard, Nivard, Michel G., Nyholt, Dale R., O'Reilly, Paul F., Oskarsson, Hogni, Owen, Michael J., Painter, Jodie N., Peterson, Roseann E., Pettersson, Erik, Peyrot, Wouter J., Pistis, Giorgio, Posthuma, Danielle, Quiroz, Jorge A., Rice, John P., Riley, Brien P., Rivera, Margarita, Mirza, Saira Saeed, Schoevers, Robert, Schulte, Eva C., Shen, Ling, Shi, Jianxin, Shyn, Stanley, Sigurdsson, Engilbert, Sinnamon, Grant C. B., Smit, Johannes H., Smith, Daniel J., Streit, Fabian, Strohmaier, Jana, Tansey, Katherine E., Teismann, Henning, Teumer, Alexander, Thompson, Wesley, Thomson, Pippa A., Thorgeirsson, Thorgeir E., Traylor, Matthew, Treutlein, Jens, Trubetskoy, Vassily, Uitterlinden, Andr G., Umbricht, Daniel, Van Der Auwera, Sandra, van Hemert, Albert M., Viktorin, Alexander, Visscher, Peter M., Wang, Yunpeng, Webb, Bradley T., Weinsheimer, Shantel Marie, Wellmann, Juergen, Willemsen, Gonneke, Witt, Stephanie H., Wu, Yang, Xi, Hualin S., Yang, Jian, Zhang, Futao, Arolt, Volker, Baune, Bernhard T., Berger, Klaus, Boomsma, Dorret, Cichon, Sven, Dannlowski, Udo, de Geus, E. J. C., DePaulo, J. Raymond, Domenici, Enrico, Domschke, Katharina, Esko, Tonu, Grabe, Hans J., Hamilton, Steven P., Hayward, Caroline, Heath, Andrew C., Kendler, Kenneth S., Kloiber, Stefan, Lewis, Glyn, Li, Qingqin S., Lucae, Susanne, Madden, Pamela A. F., Magnusson, Patrik K., Martin, Nicholas G., McIntosh, Andrew M., Metspalu, Andres, Mueller-Myhsok, Bertram, Noethen, Markus M., O'Donovan, Michael C., Paciga, Sara A., Pedersen, Nancy L., Penninx, Brenda W. J. H., Perlis, Roy H., Porteous, David J., Potash, James B., Preisig, Martin, Rietschel, Marcella, Schaefer, Catherine, Schulze, Thomas G., Smoller, Jordan W., Tiemeier, Henning, Uher, Rudolf, Voelzke, Henry, Weissman, Myrna M., Lewis, Cathryn M., Levinson, Douglas F., Breen, Gerome, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hromatka, Bethann S., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McIntyre, Matthew H., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A. M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga, Shelton, Janie F., Shringarpure, Suyash, Tung, Joyce Y., Vacic, Vladimir, and Wilson, Catherine H. (2019) Identification of common genetic risk variants for autism spectrum disorder. Nature Genetics, 51 (3). pp. 431-444.

Jayasinghe, Kushani, White, Susan M., Kerr, Peter G., MacGregor, Duncan, Stark, Zornitza, Wilkins, Ella, Simons, Cas, Mallett, Andrew, and Quinlan, Catherine (2019) Isolated proteinuria due to CUBN homozygous mutation – challenging the investigative paradigm. BMC Nephrology, 20. 330.

Mallett, Andrew J., Quinlan, Catherine, Patel, Chirag, Fowles, Lindsay, Crawford, Joanna, Gattas, Michael, Baer, Richard, Bennetts, Bruce, Ho, Gladys, Holman, Katherine, and Simons, Cas (2019) Precision medicine diagnostics for rare kidney disease: Twitter as a tool in clinical genomic translation. Kidney Medicine, 1 (5). pp. 315-318.

Lopez-Garcia, Sergio Camilo, Emma, Francesco, Walsh, Stephen B., Fila, Marc, Hooman, Nakysa, Zaniew, Marcin, Bertholet-Thomas, Aurélia, Colussi, Giacomo, Burgmaier, Kathrin, Levtchenko, Elena, Sharma, Jyoti, Singhal, Jyoti, Soliman, Neveen A., Ariceta, Gema, Basu, Biswanath, Murer, Luisa, Tasic, Velibor, Tsygin, Alexey, Decramer, Stéphane, Gil-Peña, Helena, Koster-Kamphuis, Linda, La Scola, Claudio, Gellermann, Jutta, Konrad, Martin, Lilien, Marc, Francisco, Telma, Tramma, Despoina, Trnka, Peter, Yüksel, Selçuk, Caruso, Maria Rosa, Chromek, Milan, Ekinci, Zelal, Gambaro, Giovanni, Kari, Jameela A., König, Jens, Taroni, Francesca, Thumfart, Julia, Trepiccione, Francesco, Winding, Louise, Wühl, Elke, Ağbaş, Ayşe, Belkevich, Anna, Vargas-Poussou, Rosa, Blanchard, Anne, Conti, Giovanni, Boyer, Olivia, Dursun, Ismail, Pınarbaşı, Ayşe Seda, Melek, Engin, Miglinas, Marius, Novo, Robert, Mallett, Andrew, Milosevic, Danko, Szczepanska, Maria, Wente, Sarah, Cheong, Hae Il, Sinha, Rajiv, Gucev, Zoran, Dufek, Stephanie, Iancu, Daniela, European dRTA Consortium, Kleta, Robert, Schaefer, Franz, and Bockenhauer, Detlef (2019) Treatment and long-term outcome in primary distal renal tubular acidosis. Nephrology Dialysis Transplantation, 34 (6). pp. 981-991.

Davis, Justin, Tjipto, Alwie, Hegerty, Katharine, and Mallett, Andrew (2019) An audit of electron microscopy in the diagnosis of focal segmental glomerulosclerosis: are current pathological techniques missing important abnormalities in the glomerular basement membrane? F1000Research, 8. 1204.

Aldridge, Melanie, Patel, Chirag, Mallett, Andrew J., and Trnka, Peter (2018) Antenatally diagnosed ADPKD. Kidney International Reports, 3 (5). pp. 1214-1217.

Wray, Naomi R., Ripke, Stephan, Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Adams, Mark J., Agerbo, Esben, Air, Tracy M., Andlauer, Till M. F., Bacanu, Silviu-Alin, Baekvad-Hansen, Marie, Beekman, Aartjan F. T., Bigdeli, Tim B., Binder, Elisabeth B., Blackwood, Douglas R. H., Bryois, Julien, Buttenschon, Henriette N., Bybjerg-Grauholm, Jonas, Cai, Na, Castelao, Enrique, Christensen, Jane Hvarregaard, Clarke, Toni-Kim, Coleman, Jonathan I. R., Colodro-Conde, Lucia, Couvy-Duchesne, Baptiste, Craddock, Nick, Crawford, Gregory E., Crowley, Cheynna A., Dashti, Hassan S., Davies, Gail, Deary, Ian J., Degenhardt, Franziska, Derks, Eske M., Direk, Nese, Dolan, Conor V., Dunn, Erin C., Eley, Thalia C., Eriksson, Nicholas, Escott-Price, Valentina, Kiadeh, Farnush Hassan Farhadi, Finucane, Hilary K., Forstner, Andreas J., Frank, Josef, Gaspar, Helena A., Gill, Michael, Giusti-Rodriguez, Paola, Goes, Fernando S., Gordon, Scott D., Grove, Jakob, Hall, Lynsey S., Hannon, Eilis, Hansen, Christine Soholm, Hansen, Thomas F., Herms, Stefan, Hickie, Ian B., Hoffmann, Per, Homuth, Georg, Horn, Carsten, Hottenga, Jouke-Jan, Hougaard, David M., Hu, Ming, Hyde, Craig L., Ising, Marcus, Jansen, Rick, Jin, Fulai, Jorgenson, Eric, Knowles, James A., Kohane, Isaac S., Kraft, Julia, Kretzschmar, Warren W., Krogh, Jesper, Kutalik, Zoltan, Lane, Jacqueline M., Li, Yihan, Li, Yun, Lind, Penelope A., Liu, Xiaoxiao, Lu, Leina, MacIntyre, Donald J., MacKinnon, Dean F., Maier, Robert M., Maier, Wolfgang, Marchini, Jonathan, Mbarek, Hamdi, McGrath, Patrick, McGuffin, Peter, Medland, Sarah E., Mehta, Divya, Middeldorp, Christel M., Mihailov, Evelin, Milaneschi, Yuri, Milani, Lili, Mill, Jonathan, Mondimore, Francis M., Montgomery, Grant W., Mostafavi, Sara, Mullins, Niamh, Nauck, Matthias, Ng, Bernard, Nivard, Michel G., Nyholt, Dale R., O'Reilly, Paul F., Oskarsson, Hogni, Owen, Michael J., Painter, Jodie N., Pedersen, Carsten Bocker, Pedersen, Marianne Giortz, Peterson, Roseann E., Pettersson, Erik, Peyrot, Wouter J., Pistis, Giorgio, Posthuma, Danielle, Purcell, Shaun M., Quiroz, Jorge A., Qvist, Per, Rice, John P., Riley, Brien P., Rivera, Margarita, Mirza, Saira Saeed, Saxena, Richa, Schoevers, Robert, Schulte, Eva C., Shen, Ling, Shi, Jianxin, Shyn, Stanley I., Sigurdsson, Engilbert, Sinnamon, Grant B. C., Smit, Johannes H., Smith, Daniel J., Stefansson, Hreinn, Steinberg, Stacy, Stockmeier, Craig A., Streit, Fabian, Strohmaier, Jana, Tansey, Katherine E., Teismann, Henning, Teumer, Alexander, Thompson, Wesley, Thomson, Pippa A., Thorgeirsson, Thorgeir E., Tian, Chao, Traylor, Matthew, Treutlein, Jens, Trubetskoy, Vassily, Uitterlinden, Andre G., Umbricht, Daniel, Van der Auwera, Sandra, van Hemert, Albert M., Viktorin, Alexander, Visscher, Peter M., Wang, Yunpeng, Webb, Bradley T., Weinsheimer, Shantel Marie, Wellmann, Juegen, Willemsen, Gonneke, Witt, Stephanie H., Wu, Yang, Xi, Hualin S., Yang, Jian, Zhang, Futao, Arolt, Volker, Baune, Bernhard T., Berger, Klaus, Boomsma, Dorret I., Cichon, Sven, Dannlowski, Udo, de Geus, E. C. J., DePaulo, J. Raymond, Domenici, Enrico, Domschke, Katharina, Esko, Tonu, Grabe, Hans J., Hamilton, Steven P., Hayward, Caroline, Heath, Andrew C., Hinds, David A., Kendler, Kenneth S., Kloiber, Stefan, Lewis, Glyn, Li, Qingqin S., Madden, Pamela F. A., Magnusson, Patrik K., Martin, Nicholas G., McIntosh, Andrew M., Metspalu, Andres, Mors, Ole, Mortensen, Preben Bo, Mueller-Myhsok, Bertram, Nordentoft, Merete, Noethen, Markus M., O'Donovan, Michael C., Paciga, Sara A., Pedersen, Nancy L., Penninx, Brenda W. J. H., Perlis, Roy H., Porteous, David J., Potash, James B., Preisig, Martin, Rietschel, Marcella, Schaefer, Catherine, Schulze, Thomas G., Smoller, Jordan W., Stefansson, Kari, Tiemeier, Henning, Uher, Rudolf, Voelzke, Henry, Weissman, Myrna M., Werge, Thomas, Winslow, Ashley R., Lewis, Cathryn M., Levinson, Douglas F., Breen, Gerome, Borglum, Anders D., and Sullivan, Patrick F. (2018) Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. Nature Genetics, 50 (5). pp. 668-681.

Arnau-Soler, Aleix, Adams, Mark J., Generation Scotland, Major Depressive Disorder Working Group, Hayward, Caroline, and Thompson, Pippa A. (2018) Genome-wide interaction study of a proxy for stress-sensitivity and its prediction of major depressive disorder. PLoS ONE, 13 (12). e0209160.

Jayasinghe, Kushani, Quinlan, Cathy, Stark, Zornitza, Patel, Chirag, Sampson, Matthew G., Saleem, Moin, and Mallett, Andrew J. (2018) Meeting report of the 2017 KidGen Renal Genetics Symposium. Human Genomics, 12. 5.

Forbes, Thomas A., Howden, Sara E., Lawlor, Kynan, Phipson, Belinda, Maksimovic, Jovana, Hale, Lorna, Wilson, Sean, Quinlan, Catherine, Ho, Gladys, Holman, Katherine, Bennetts, Bruce, Crawford, Joanna, Trnka, Peter, Oshlack, Alicia, Patel, Chirag, Mallett, Andrew, Simons, Cas, and Little, Melissa H. (2018) Patient-iPSC-derived kidney organoids show functional validation of a ciliopathic renal phenotype and reveal underlying pathogenetic mechanisms. American Journal of Human Genetics, 102 (5). pp. 816-831.

Jayasinghe, Kushani, Quinlan, Catherine, Stark, Zornitza, Patel, Chirag, Mallawaarachchi, Amali, Wardrop, Louise, Kerr, Peter G., Trnka, Peter, and Mallett, Andrew J. (2018) Renal genetics in Australia: kidney medicine in the genomic age. Nephrology, 24 (3). pp. 279-286.

Witt, S.H., Streit, F., Landen, M., Leber, M., Leboyer, M., Kammerer-Ciernioch, J., Kirov, G., Kittel-Schneider, S., Kloiber, S., Knott, S.V., Kogevinas, M., Kahn, R.S., Jamain, S., Jones, I., Jones, L.A., Jureus, A., Hottenga, J-J., Holmans, P., Hautzinger, M., Heilbronner, U., Herms, S., Hitturlingappa, S., Hoffmann, P., Hauser, J., Davis, T., de Geus, E.J.C., Di Florio, A., Djurovic, S., Domenici, E., Edenberg, H.J., Etain, B., Fischer, S.B., Forty, L., Fraser, C., Frye, M.A., Fullerton, J.M., Gade, K., Gershon, E.S., Giegling, I., Gordon, S.D., Gordon-Smith, K., Grabe, H.J., Green, E.K., Greenwood, T.A., Grigoroiu-Serbanescu, M., Guzman-Parra, J., Hall, L.S., Hamshere, M., Czerski, P.M., Dannlowski, U., Cruceanu, C., Curtis, D., Craddock, N., Clarke, T-K., Cervantes, P., Byrne, E.M., Buttenschon, H.N., Budde, M., Brennan, P., Borrmann-Hassenbach, M., Borglum, A.D., Boomsma, D.I., Boks, M.P., Blackwood, D.H.R., Biernacka, J.M., Bethell, A., Bergen, S., Bellivier, F., Baune, B.T., Bauer, M., Bass, N.J., Babadjanova, G., Andreassen, O.A., Alliey-Rodriguez, N., Alda, M., Akil, H., Air, T.M., Adolfsson, R., Abdellaoui, A., Strohmaier, J., Schendel, D., Schwarze, C.E., Dietl, L., Heilmann-Heimbach, S., Forstner, A.J., Degenhardt, F., Treutlein, J., Reinbold, C.S., Frank, J., Awasthi, S., Jungkunz, M., Li, Q.S., Lissowska, J., Lucae, S., Martin, N.G., Mayoral-Cleries, F., McElroy, S.L., McIntosh, A.M., McKay, J.D., McQuillin, A., Medland, S.E., Witt, C.C., Middeldorp, C.M., Milaneschi, Y., Mitchell, P.B., Montgomery, G.W., Morken, G., Mors, O., Muehleisen, T.W., Mueller-Myhsok, B., Myers, R.M., Nievergelt, C.M., Nurnberger, J.I., O'Donovan, M.C., Loohuis, L.M.O., Ophoff, R., Oruc, L., Owen, M.J., Paciga, S.A., Penninx, B.W.J.H., Perry, A., Pfennig, A., Potash, J.B., Preisig, M., Reif, A., Rivas, F., Rouleau, G.A., Schofield, P.R., Schulze, T.G., Schwarz, M., Scott, L., Sinnamon, G.C.B., Stahl, E.A., Strauss, J., Turecki, G., Van der Auwera, S., Vedder, H., Vincent, J.B., Willemsen, G., Wray, N.R., Xi, H.S., Tadic, A., Dahmen, N., Schott, B.H., Cichon, S., Noethen, M.M., Ripke, S., Mobascher, A., Rujescu, D., Lieb, K., Roepke, S., Schmahl, C., Bohus, M., and Rietschel, M. (2017) Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia. Translational Psychiatry, 7.

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.

Connor, Thomas M., Hoer, Simon, Mallett, Andrew, Gale, Daniel P., Gomez-Duran, Aurora, Posse, Viktor, Antrobus, Robin, Moreno, Pablo, Sciacovelli, Marco, Frezza, Christian, Duff, Jennifer, Sheerin, Neil S., Sayer, John A., Ashcroft, Margaret, Wiesener, Michael S., Hudson, Gavin, Gustafsson, Claes M., Chinnery, Patrick F., and Maxwell, Patrick H. (2017) Mutations in mitochondrial DNA causing tubulointerstitial kidney disease. PLoS Genetics, 13. e1006620.

Golledge, Jonathan, Biros, Erik, Bingley, John, Iyer, Vikram, and Krishna, Smriti M. (2016) Epigenetics and peripheral artery disease. Current Atherosclerosis Reports, 18 (4). 15. pp. 1-9.

Krishna, Smriti Murali, Mohamed Omer, Safraz, and Golledge, Jonathan (2016) Evaluation of the clinical relevance and limitations of current pre-clinical models of peripheral artery disease. Clinical Science, 130 (3). pp. 127-150.

Mehrian-Shai, Ruty, Yalon, Michal, Moshe, Itai, Barshack, Iris, Nass, Dvorah, Jacob, Jasmine, Dor, Chen, Reichardt, Juergen K.V., Constantini, Shlomi, and Toren, Amos (2016) Identification of genomic aberrations in hemangioblastoma by droplet digital PCR and SNP microarray highlights novel candidate genes and pathways for pathogenesis. BMC Genomics, 17. 56. pp. 1-11.

Mallett, Andrew, Fowles, Lindsay F., McGaughran, Julie, Healy, Helen, and Patel, Chirag (2016) A multidisciplinary renal genetics clinic improves patient diagnosis. Medical Journal of Australia, 204 (2). pp. 58-59.

Patel, Chirag, Tchan, Michel, Savige, Judy, Mallett, Andrew, Tong, Allison, Tunnicliffe, David J., and Rangan, Gopala K. (2015) KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetics and Genetic Counseling. Seminars in Nephrology, 35 (6). pp. 550-556.