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C

Catherine Quinlan

University of Melbourne
H指数:21
被引数:1,736

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Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation

罕见病基因组测序技术在主流医疗保健中的应用现状

European Journal of Human Genetics
IF4.6
2025-08-220
PRE
Michael P. Mackley; Pankaj B. Agrawal; Sara S. Ali; Alison D. Archibald; Belinda Dawson-McClaren; Holly Ellard; Lucinda Freeman; Yuanyuan Gu; Kushani Jayasinghe; Shan Jiang; Edwin P. Kirk; Celine Lewis; Alison McEwen; Amy Nisselle; Catherine Quinlan; Bronwyn Terrill; Erin Tutty; Alisdair McNeill
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines

一种新的多系统ERCC1-肝肾综合征：来自临床队列、分子发病机制和管理指南的见解

European Journal of Human Genetics
IF4.6
2025-07-190
OAAI
Susan M. White; Annelotte P. Wondergem; Isa Breet; Maren Dittmaier; Katrina Bell; Christopher M. Richmond; Winita Hardikar; Kanika Bhatia; Catherine Quinlan; David Orchard; Areetha D’Souza; Walter J. Chazin; Christopher Smith; Rebecca Sparkes; Simon Lam; Alexandra Carter; Robert J. Hopkin; Leticia Khendek; Bonnie R. Sullivan; Naja Becher; Anne Katrine W. Simonsen; Helene Kvistgaard; Katherine Dempsey; Alexander G. Miethke; Pernille Axél Gregersen; Eliza Phillips; Martijn S. Luijsterburg
Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023
HUMAN GENOMICS
IF4.3
2024-08-172
OAAI
Mallawaarachchi, Amali; Biros, Erik; Harris, Trudie; Bennetts, Bruce; Boughtwood, Tiffany; Elliott, Justine; Fowles, Lindsay; Gardos, Robert; Garza, Denisse; Goranitis, Ilias; Haas, Matilda; Huntley, Vanessa; Jefferis, Julia; Kassahn, Karin; Leaver, Anna; Lundie, Ben; Lunke, Sebastian; O'Connor, Caitlin; Pratt, Greg; Quinlan, Catherine; Shearman, Dianne; Soraru, Jacqueline; Sundaram, Madhivanan; Tchan, Michel; Valente, Giulia; White, Julie; Wilkins, Ella; Alexander, Steve I.; Amir, Noa; Best, Stephanie; Gul, Hossai; Jayasinghe, Kushani; McCarthy, Hugh; Patel, Chirag; Stark, Zornitza; Mallett, Andrew J.
Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years
KIDNEY INTERNATIONAL REPORTS
IF5.7
2024-08-016
OAAI
Jayasinghe, Kushani; Biros, Erik; Harris, Trudie; Wood, Alasdair; O'Shea, Rosie; Hill, Lauren; Fowles, Lindsay; Wardrop, Louise; Shalhoub, Carolyn; Hahn, Deirdre; Rangan, Gopala; Kevin, Lucy; Tchan, Michel; Snelling, Paul; Sandow, Rhiannon; Sundaram, Madhivan; Chaturvedi, Swasti; Trnka, Peter; Faull, Randall; Poplawski, Nicola K.; Huntley, Vanessa; Garza, Denisse; Wallis, Mathew; Jose, Matthew; Leaver, Anna; Trainer, Alison H.; Wilkins, Ella J.; White, Sue; Elbaum, Yoni; Prawer, Yael; Krzesinski, Emma; Valente, Giulia; Winship, Ingrid; Ryan, Jessica; Whitlam, John; Nicholls, Kathy; West, Kirsty; Donaldson, Liz; Johnstone, Lilian; Lewit-Mendes, Miranda; Kerr, Peter G.; Bodek, Simon; Chakera, Aron; MacShane, Mandi; Mincham, Christine; Stackpoole, Elaine; Willis, Francis; Soraru, Jacqueline; Pachter, Nick; Bennetts, Bruce; Forbes, Thomas A.; Mallawaarachchi, Amali; Quinlan, Catherine; Patel, Chirag; McCarthy, Hugh; Goranitis, Illias; Best, Stephanie; Alexander, Stephen; Stark, Zornitza; Mallett, Andrew J.
Genomic Testing in Patients with Kidney Failure of an Unknown Cause A National Australian Study
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
IF7.1
2024-05-032
OAAI
Mallawaarachchi, Amali C.; Fowles, Lindsay; Wardrop, Louise; Wood, Alasdair; O'Shea, Rosie; Biros, Erik; Harris, Trudie; Alexander, Stephen I.; Bodek, Simon; Boudville, Neil; Burke, Jo; Burnett, Leslie; Casauria, Sarah; Chadban, Steve; Chakera, Aron; Crafter, Sam; Dai, Pei; De Fazio, Paul; Faull, Randall; Honda, Andrew; Huntley, Vanessa; Jahan, Sadia; Jayasinghe, Kushani; Jose, Matthew; Leaver, Anna; Macshane, Mandi; Madelli, Evanthia Olympia; Nicholls, Kathy; Pawlowski, Rhonda; Rangan, Gopi; Snelling, Paul; Soraru, Jacqueline; Sundaram, Madhivanan; Tchan, Michel; Valente, Giulia; Wallis, Mathew; Wedd, Laura; Welland, Matthew; Whitlam, John; Wilkins, Ella J.; McCarthy, Hugh; Simons, Cas; Quinlan, Catherine; Patel, Chirag; Stark, Zornitza; Mallett, Andrew J.
Response to Lombardi and Mesnard
GENETICS IN MEDICINE
IF6.2
2024-01-010
OAAI
Wu, You; Jayasinghe, Kushani; Stark, Zornitza; Quinlan, Catherine; Patel, Chirag; McCarthy, Hugh; Mallawaarachchi, Amali C.; Kerr, Peter G.; Alexander, Stephen I.; Mallett, Andrew J.; Goranitis, Ilias

研究方向

暂未获取到该数据
Z
Zornitza Stark
H 指数:52论文数:339被引数:1.1万
A
Andrew J. Mallett
H 指数:31论文数:302被引数:3,718
K
Kushani Jayasinghe
H 指数:12论文数:35被引数:951
C
Chirag Patel
H 指数:40论文数:208被引数:4,460
A
Amali Mallawaarachchi
H 指数:19论文数:68被引数:1,181
S
Stephanie Best
H 指数:29论文数:203被引数:3,022
H
Hugh J. McCarthy
H 指数:20论文数:92被引数:1,811
P
Peter G. Kerr
H 指数:69论文数:382被引数:1.7万
I
Ilias Goranitis
H 指数:28论文数:144被引数:2,254
S
Stephen I. Alexander
H 指数:59论文数:317被引数:1.3万