Catherine Quinlan

Correcting Hypernatremia in Children.

Madeleine Didsbury, Emily J See, Daryl R Cheng, Joshua Kausman, Catherine Quinlan

Journal article  |  2023  |  Clin J Am Soc Nephrol

BACKGROUND: In children with hypernatremia, current clinical guidelines recommend a reduction in serum sodium of 0.5 mmol/L per ho..

Clinical and diagnostic utility of genomic sequencing for children referred to a Kidney Genomics Clinic with microscopic haematuria

Josiah Shanks, Grainne Butler, Daryl Cheng, Kushani Jayasinghe, Catherine Quinlan

Journal article  |  2023  |  PEDIATRIC NEPHROLOGY

BACKGROUND: Microscopic haematuria in children is associated with the risk of progression to chronic kidney disease. Genetic disea..

Pathological consequences of DNA damage in the kidney

Juan I Garaycoechea, Catherine Quinlan, Martijn S Luijsterburg

Journal article  |  2023  |  NATURE REVIEWS NEPHROLOGY

DNA lesions that evade repair can lead to mutations that drive the development of cancer, and cellular responses to DNA damage can..

Kidney Organoids Generated Using an Allelic Series of NPHS2 Point Variants Reveal Distinct Intracellular Podocin Mistrafficking

Aude Dorison, Irene Ghobrial, Alison Graham, Thanushi Peiris, Thomas AA Forbes, Michael See, Mithun Das, Moin AA Saleem, Catherine Quinlan, Kynan TT Lawlor, Mirana Ramialison, Sara EE Howden, Melissa HH Little

Journal article  |  2023  |  JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

BACKGROUND: NPHS2 variants are the most common cause of steroid-resistant nephrotic syndrome in children >1 month old. Missense NP..

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

Sheena Kaul, Catherine Quinlan

Journal article  |  2022  |  KIDNEY INTERNATIONAL REPORTS

Bardoxolone Methyl for Alport Syndrome: Opportunities and Challenges

Catherine Quinlan, Kushani Jayasinghe

Journal article  |  2022  |  CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

CORRECTING HYPERNATRAEMIA IN CHILDREN-THE CHIC STUDY

Madeleine Didsbury, Emily See, Daryl Cheng, Joshua Kausman, Catherine Quinlan

Conference Proceedings  |  2022  |  NEPHROLOGY

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

Rosie O'Shea, Alasdair Wood, Chirag Patel, Hugh J McCarthy, Amali Mallawaarachchi, Catherine Quinlan, Cas Simons, Zornitza Stark, Andrew J Mallett

Journal article  |  2022  |  GENES

The choices of participants in nephrology research genomics studies about receiving additional findings (AFs) are unclear as are p..

Theory Designed Strategies to Support Implementation of Genomics in Nephrology

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

Journal article  |  2022  |  GENES

(1) Background: Genomic testing is increasingly utilized as a clinical tool; however, its integration into nephrology remains limi..

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

Rachael Kermond, Simon Carter, Catherine Quinlan

Journal article  |  2022  |  PEDIATRIC NEPHROLOGY