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Author/Creator Springer, Amanda

1. EED and EZH2 constitutive variants: A study to expand the Cohen‐Gibson syndrome phenotype and contrast it with Weaver syndrome. Issue 4 (21st February 2019)

Authors:
Griffiths, Sara; Loveday, Chey; Zachariou, Anna; Behan, Lucy‐Ann; Chandler, Kate; Cole, Trevor; D'Arrigo, Stefano; Dieckmann, Andrea; Foster, Alison; Gibney, James; Hunter, Matthew; Milani, Donatella; Pantaleoni, Chiara; Roche, Edna; Sherlock, Mark; Springer, Amanda; White, Susan M.; Tatton‐Brown...
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 4(2019)
Page Start:
588
Record Type:
Journal Article
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2. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System. Issue 11 (November 2020)

Authors:
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.; ...
Journal:
Obstetrical & gynecological survey
Issue:
Volume 75:Issue 11(2020)
Page Start:
Record Type:
Journal Article
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3. Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate. Issue 11 (9th September 2020)

Authors:
Akesson, Lauren S.; Bournazos, Adam; Fennell, Andrew; Krzesinski, Emma I.; Tan, Kenneth; Springer, Amanda; Rose, Katherine; Goranitis, Ilias; Francis, David; Lee, Crystle; Faiz, Fathimath; Davis, Mark R.; Christodoulou, John; Lunke, Sebastian; Stark, Zornitza; Hunter, Matthew F.; Cooper, Sandra T.
Journal:
Human mutation
Issue:
Volume 41:Issue 11(2020)
Page Start:
1884
Record Type:
Journal Article
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4. The Thr300Ala variant in ATG16L1 is associated with improved survival in human colorectal cancer and enhanced production of type I interferon. Issue 3 (2nd February 2015)

Authors:
Grimm, Wesley A; Messer, Jeannette S; Murphy, Stephen F; Nero, Thomas; Lodolce, James P; Weber, Christopher R; Logsdon, Mark F; Bartulis, Sarah; Sylvester, Brooke E; Springer, Amanda; Dougherty, Urszula; Niewold, Timothy B; Kupfer, Sonia S; Ellis, Nathan; Huo, Dezheng; Bissonnette, Marc; Boone, D...
Journal:
Gut
Issue:
Volume 65:Issue 3(2016)
Page Start:
456
Record Type:
Journal Article
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