Items where Subject is "32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320213 Medical genetics (excl. cancer genetics)"

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Number of items at this level: 48.

A

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.

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.

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

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.

B

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.

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.

C

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.

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.

D

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.

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.

F

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.

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.

G

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.

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.

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.

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.

H

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.

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.

J

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.

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.

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.

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.

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.

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.

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.

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.

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.

K

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.

L

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.

M

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.

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.

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.

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.

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.

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.

N

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.

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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.

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.

S

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.

T

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.

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.

W

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.

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.

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.

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This list was generated on Wed Feb 1 22:53:44 2023 AEST.