Catherine Quinlan

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

Kushani Jayasinghe, Zornitza Stark, Peter G Kerr, Clara Gaff, Melissa Martyn, John Whitlam, Belinda Creighton, Elizabeth Donaldson, Matthew Hunter, Anna Jarmolowicz, Lilian Johnstone, Emma Krzesinski, Sebastian Lunke, Elly Lynch, Kathleen Nicholls, Chirag Patel, Yael Prawer, Jessica Ryan, Emily J See, Andrew Talbot, et al.

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidne..

Taking a multidisciplinary approach to maintaining haemodialysis vascular access: a challenging case in an infant: Questions

Rebecca Anderson, Brendan Cusack, Elhamy Bekhit, Bernadita Troncoso Solar, Cathy Quinlan, Joshua Kausman

Journal article  |  2020  |  Pediatric Nephrology

Taking a multidisciplinary approach to maintaining haemodialysis vascular access: a challenging case in an infant: Answers

Rebecca Anderson, Brendan Cusack, Elhamy Bekhit, Bernadita Troncoso Solar, Cathy Quinlan, Joshua Kausman

Journal article  |  2020  |  Pediatric Nephrology

Advances in our understanding of genetic kidney disease using kidney organoids

Melissa H Little, Catherine Quinlan

Journal article  |  2020  |  Pediatric Nephrology

A significant proportion of kidney disease presenting in childhood is likely genetic in origin with a growing number of genes impl..

Parental health spillover effects of paediatric rare genetic conditions

You Wu, Hareth Al-Janabi, Andrew Mallett, Catherine Quinlan, Ingrid E Scheffer, Katherine B Howell, John Christodoulou, Richard J Leventer, Paul J Lockhart, Zornitza Stark, Tiffany Boughtwood, Ilias Goranitis

Journal article  |  2020  |  Quality of Life Research

CUBN variants uncouple proteinuria from kidney function

Catherine Quinlan

Journal article  |  2020  |  Nature Reviews Nephrology

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

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

Journal article  |  2019  |  BMC Nephrology

Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol

Kushani Jayasinghe, Zornitza Stark, Chirag Patel, Amali Mallawaarachchi, Hugh McCarthy, Randall Faull, Aron Chakera, Madhivanan Sundaram, Matthew Jose, Peter Kerr, You Wu, Louise Wardrop, Ilias Goranitis, Stephanie Best, Melissa Martyn, Catherine Quinlan, Andrew J Mallett

Journal article  |  2019  |  BMJ Open

INTRODUCTION: Recent advances in genomic technology have allowed better delineation of renal conditions, the identification of new..

Outcomes Following Treatment of Maternal Hypercalcemia Due to CYP24A1 Pathogenic Variants

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

Journal article  |  2019  |  Kidney International Reports

1 Renal genetics in Australia: Kidney medicine in the genomic age

Kushani Jayasinghe, Catherine Quinlan, Zornitza Stark, Chirag Patel, Amali Mallawaarachchi, Louise Wardrop, Peter G Kerr, Peter Trnka, Andrew J Mallett

Journal article  |  2019  |  Nephrology