Catherine Quinlan

Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics

Kushani Jayasinghe, Catherine Quinlan, Andrew J Mallett, Peter G Kerr, Belinda McClaren, Amy Nisselle, Amali Mallawaarachchi, Kevan R Polkinghorne, Chirag Patel, Stephanie Best, Zornitza Stark

Journal article  |  2021  |  KIDNEY INTERNATIONAL REPORTS

Introduction: Genomic testing is becoming widely available as a diagnostic tool, although widespread implementation is not yet est..

VARIANTS IN SAMD9 ARE ASSOCIATED WITH PAEDIATRIC FOCAL SEGMENTAL GLOMERULOSCLEROSIS

TA Forbes, C D'Arcy, P Blombery, D Efron, E Wilkins, T Cole, SL Khaw, C Quinlan, SM White

Conference Proceedings  |  2020  |  NEPHROLOGY

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

PURPOSE: The complexity and severity of rare genetic conditions pose substantial burden to families. While the importance of spill..

CUBN variants uncouple proteinuria from kidney function

Catherine Quinlan

Journal article  |  2020  |  NATURE REVIEWS NEPHROLOGY

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

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

Journal article  |  2019  |  KIDNEY MEDICINE

New technologies such as genomics present opportunities to deliver precision medicine, including in the diagnosis of rare kidney d..

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

BACKGROUND: Proteinuria is a common clinical presentation, the diagnostic workup for which involves many non-invasive and invasive..