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Genetic counseling in pediatric acute care: Reflections on ultra‐rapid genomic diagnoses in neonates.
Published in:
Journal of Genetic Counseling, 2019, v. 28, n. 2, p. 273, doi. 10.1002/jgc4.1086
By:
- Ayres, Samantha;
- Brett, Gemma R.;
- Gallacher, Lyndon;
- Stark, Zornitza
Publication type:
Article
Genetic Counseling in the Era of Genomics: What’s all the Fuss about?
Published in:
Journal of Genetic Counseling, 2018, v. 27, n. 5, p. 1010, doi. 10.1007/s10897-018-0216-x
By:
- Brett, Gemma R;
- Wilkins, Ella J;
- Creed, Emma T;
- West, Kirsty;
- Jarmolowicz, Anna;
- Valente, Giulia M;
- Prawer, Yael;
- Lynch, Elly;
- Macciocca, Ivan
Publication type:
Article
Co-design, implementation, and evaluation of plain language genomic test reports.
Published in:
NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00332-x
By:
- Brett, Gemma R.;
- Ward, Aisha;
- Bouffler, Sophie E.;
- Palmer, Elizabeth E.;
- Boggs, Kirsten;
- Lynch, Fiona;
- Springer, Amanda;
- Nisselle, Amy;
- Stark, Zornitza
Publication type:
Article
Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-020-00168-3
By:
- Best, Stephanie;
- Brown, Helen;
- Lunke, Sebastian;
- Patel, Chirag;
- Pinner, Jason;
- Barnett, Christopher P.;
- Wilson, Meredith;
- Sandaradura, Sarah A.;
- McClaren, Belinda;
- Brett, Gemma R.;
- Braithwaite, Jeffrey;
- Stark, Zornitza
Publication type:
Article
An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 8, p. 825, doi. 10.1038/ejhg.2012.13
By:
- Brett, Gemma R;
- Metcalfe, Sylvia A;
- Amor, David J;
- Halliday, Jane L
Publication type:
Article
Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.
Published in:
Annals of Clinical & Translational Neurology, 2017, v. 4, n. 5, p. 318, doi. 10.1002/acn3.409
By:
- Walsh, Maie;
- Bell, Katrina M.;
- Chong, Belinda;
- Creed, Emma;
- Brett, Gemma R.;
- Pope, Kate;
- Thorne, Natalie P.;
- Sadedin, Simon;
- Georgeson, Peter;
- Phelan, Dean G.;
- Day, Timothy;
- Taylor, Jessica A.;
- Sexton, Adrienne;
- Lockhart, Paul J.;
- Kiers, Lynette;
- Fahey, Michael;
- Macciocca, Ivan;
- Gaff, Clara L.;
- Oshlack, Alicia;
- Yiu, Eppie M.
Publication type:
Article
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.
Published in:
JAMA Pediatrics, 2017, v. 171, n. 9, p. 855, doi. 10.1001/jamapediatrics.2017.1755
By:
- Tiong Yang Tan;
- Dillon, Oliver James;
- Stark, Zornitza;
- Schofield, Deborah;
- Alam, Khurshid;
- Shrestha, Rupendra;
- Belinda Chong;
- Phelan, Dean;
- Brett, Gemma R.;
- Creed, Emma;
- Jarmolowicz, Anna;
- Yap, Patrick;
- Walsh, Maie;
- Downie, Lilian;
- Amor, David J.;
- Savarirayan, Ravi;
- McGillivray, George;
- Yeung, Alison;
- Peters, Heidi;
- Robertson, Susan J.
Publication type:
Article
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
Published in:
2020
By:
- Lunke, Sebastian;
- Eggers, Stefanie;
- Wilson, Meredith;
- Patel, Chirag;
- Barnett, Christopher P.;
- Pinner, Jason;
- Sandaradura, Sarah A.;
- Buckley, Michael F.;
- Krzesinski, Emma I.;
- de Silva, Michelle G.;
- Brett, Gemma R.;
- Boggs, Kirsten;
- Mowat, David;
- Kirk, Edwin P.;
- Adès, Lesley C.;
- Akesson, Lauren S.;
- Amor, David J.;
- Ayres, Samantha;
- Baxendale, Anne;
- Borrie, Sarah
Publication type:
journal article
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.
Published in:
Human Mutation, 2021, v. 42, n. 1, p. 19, doi. 10.1002/humu.24135
By:
- Helman, Guy;
- Compton, Alison G.;
- Hock, Daniella H.;
- Walkiewicz, Marzena;
- Brett, Gemma R.;
- Pais, Lynn;
- Tan, Tiong Y.;
- De Paoli‐Iseppi, Ricardo;
- Clark, Michael B.;
- Christodoulou, John;
- White, Susan M.;
- Thorburn, David R.;
- Stroud, David A.;
- Stark, Zornitza;
- Simons, Cas
Publication type:
Article

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