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Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels..
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children W..
An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Hom..
Real-world utility of whole exome sequencing with targeted gene analysis for focal epileps..
Displaying the 12 most recent scholarly works by Natalie Thorne.
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis
Tiong Yang Tan, Sebastian Lunke, Belinda Chong, Dean Phelan, Miriam Fanjul-Fernandez, Justine E Marum, Vanessa Siva Kumar, Zornitza Stark, Alison Yeung, Natasha J Brown, Chloe Stutterd, Martin B Delatycki, Simon Sadedin, Melissa Martyn, Ilias Goranitis, Natalie Thorne, Clara L Gaff, Susan M White
Journal article | 2019 | European Journal of Human Genetics
Diagnostic exome sequencing (ES) can be performed on the proband only (singleton; sES) or with additional samples, often including..
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders
Oliver James Dillon, Sebastian Lunke, Zornitza Stark, Alison Yeung, Natalie Thorne, Clara Gaff, Susan M White, Tiong Yang Tan
Journal article | 2018 | European Journal of Human Genetics
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions
Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, Deborah Schofield, Khurshid Alam, Rupendra Shrestha, Belinda Chong, Dean Phelan, Gemma R Brett, Emma Creed, Anna Jarmolowicz, Patrick Yap, Maie Walsh, Lilian Downie, David J Amor, Ravi Savarirayan, George McGillivray, Alison Yeung, Heidi Peters, Susan J Robertson, et al.
Journal article | 2017 | JAMA Pediatrics
Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy
Maie Walsh, Katrina M Bell, Belinda Chong, Emma Creed, Gemma R Brett, Kate Pope, Natalie P Thorne, Simon Sadedin, Peter Georgeson, Dean G Phelan, Timothy Day, Jessica A Taylor, Adrienne Sexton, Paul J Lockhart, Lynette Kiers, Michael Fahey, Ivan Macciocca, Clara L Gaff, Alicia Oshlack, Eppie M Yiu, et al.
Journal article | 2017 | Annals of Clinical and Translational Neurology
Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy
Piero Perucca, Ingrid E Scheffer, A Simon Harvey, Paul A James, Sebastian Lunke, Natalie Thorne, Clara Gaff, Brigid M Regan, John A Damiano, Michael S Hildebrand, Samuel F Berkovic, Terence J O'Brien, Patrick Kwan
Journal article | 2017 | Epilepsy Research
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Zornitza Stark, Tiong Y Tan, Belinda Chong, Gemma R Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie, David J Amor, Ravi Savarirayan, George McGillivray, Lilian Downie, Paul G Ekert, Christiane Theda, Paul A James, Joy Yaplito-Lee, Monique M Ryan, Richard J Leventer, et al.
Journal article | 2016 | Genetics in Medicine
Cpipe: a shared variant detection pipeline designed for diagnostic settings
Simon P Sadedin, Harriet Dashnow, Paul A James, Melanie Bahlo, Denis C Bauer, Andrew Lonie, Sebastian Lunke, Ivan Macciocca, Jason P Ross, Kirby R Siemering, Zornitza Stark, Susan M White, Graham Taylor, Clara Gaff, Alicia Oshlack, Natalie P Thorne
Journal article | 2015 | Genome Medicine
Use of Copy Number Deletion Polymorphisms to Assess DNA Chimerism
Damien L Bruno, Devika Ganesamoorthy, Natalie P Thorne, Ling Ling, Melanie Bahlo, Sue Forrest, Marieke Veenendaal, Marina Katerelos, Alison Skene, Frank L Ierino, David A Power, Howard R Slater
Journal article | 2014 | Clinical Chemistry
Medical Biology (W.E.H.I.)