Is Hyperparathyroidism a Concern for Allograft Dysfunction in Pediatric Kidney Transplantation?

por Kaul, Sheena, Quinlan, Catherine
Publicado 2022

A child presents with acute kidney injury, alkalosis and hypercalcaemia—a new-age cause for a historical syndrome: Answers

por Kermond, Rachael, Carter, Simon, Quinlan, Catherine
Publicado 2022

Incidence of pregnancy after expectant, medical, or surgical management of spontaneous first trimester miscarriage: long term follow-up of miscarriage treatment (MIST) randomised c...

por Smith, Lindsay F P, Ewings, Paul D, Quinlan, Catherine
Publicado 2009

Outcomes Following Treatment of Maternal Hypercalcemia Due to CYP24A1 Pathogenic Variants

por McBride, Lucy, Houlihan, Christine, Quinlan, Catherine, Messazos, Betty, Stark, Zornitza, Crosthwaite, Amy
Publicado 2019

Pediatric Renal Transplantation in a Highly Sensitised Child—8 Years On

por Quinlan, Catherine, Awan, Atif, Gill, Denis, Waldron, Mary, Little, Dilly, Hickey, David, Conlon, Peter, Keogan, Mary
Publicado 2011

Theory Designed Strategies to Support Implementation of Genomics in Nephrology

por Kansal, Arushi, Quinlan, Catherine, Stark, Zornitza, Kerr, Peter G., Mallett, Andrew J., Lakshmanan, Chandni, Best, Stephanie, Jayasinghe, Kushani
Publicado 2022

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

Cost-Effectiveness of Targeted Exome Analysis as a Diagnostic Test in Glomerular Diseases

por Jayasinghe, Kushani, Wu, You, Stark, Zornitza, Kerr, Peter G., Mallett, Andrew J., Gaff, Clara, Martyn, Melissa, Goranitis, Ilias, Quinlan, Catherine
Publicado 2021

Isolated proteinuria due to CUBN homozygous mutation – challenging the investigative paradigm

por Jayasinghe, Kushani, White, Susan M., Kerr, Peter G., MacGregor, Duncan, Stark, Zornitza, Wilkins, Ella, Simons, Cas, Mallett, Andrew, Quinlan, Catherine
Publicado 2019

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

Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation

por Mallett, Andrew J., Quinlan, Catherine, Patel, Chirag, Fowles, Lindsay, Crawford, Joanna, Gattas, Michael, Baer, Richard, Bennetts, Bruce, Ho, Gladys, Holman, Katherine, Simons, Cas
Publicado 2019

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

3D organoid-derived human glomeruli for personalised podocyte disease modelling and drug screening

por Hale, Lorna J., Howden, Sara E., Phipson, Belinda, Lonsdale, Andrew, Er, Pei X., Ghobrial, Irene, Hosawi, Salman, Wilson, Sean, Lawlor, Kynan T., Khan, Shahnaz, Oshlack, Alicia, Quinlan, Catherine, Lennon, Rachel, Little, Melissa H.
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

ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients

por Apelt, Katja, White, Susan M., Kim, Hyun Suk, Yeo, Jung-Eun, Kragten, Angela, Wondergem, Annelotte P., Rooimans, Martin A., González-Prieto, Román, Wiegant, Wouter W., Lunke, Sebastian, Flanagan, Daniel, Pantaleo, Sarah, Quinlan, Catherine, Hardikar, Winita, van Attikum, Haico, Vertegaal, Alfred C.O., Wilson, Brian T., Wolthuis, Rob M.F., Schärer, Orlando D., Luijsterburg, Martijn S.
Publicado 2020

Clinical impact of genomic testing in patients with suspected monogenic kidney disease

por 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 J., Quinlan, Catherine
Publicado 2020