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Author/Creator Austin, Rachel

2. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Issue 9 (13th September 2019)

Authors:
Parsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló, Lidia; Aalfs, Cora M.; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso‐Cerezo, María Concepción; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmaña, Judith; Barbie...
Editors:
Moult, John; Brenner, Steven E.
Other Names:
Karchin Rachel guestEditor.; Pal Lipika R. specialEditor.
Journal:
Human mutation
Issue:
Volume 40:Issue 9(2019)
Page Start:
1557
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study. Issue 7 (July 2021)

Authors:
Win, Aung Ko; Dowty, James G.; Reece, Jeanette C.; Lee, Grant; Templeton, Allyson S.; Plazzer, John-Paul; Buchanan, Daniel D.; Akagi, Kiwamu; Aksoy, Seçil; Alonso, Angel; Alvarez, Karin; Amor, David J.; Ankathil, Ravindran; Aretz, Stefan; Arnold, Julie L.; Aronson, Melyssa; Austin, Rachel; Backma...
Journal:
Lancet oncology
Issue:
Volume 22:Issue 7(2021)
Page Start:
1014
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Investigation of current models of care for genetic heart disease in Australia: A national clinical audit. (1st May 2021)

Authors:
Austin, Rachel; Quinn, Michael C.J.; Afoakwah, Clifford; Metke-Jimenez, Alejandro; Leroux, Hugo; Atherton, John; Brown, Jaye S.; Wornham, Linda J.; Macciocca, Ivan; de Silva, Michelle G.; Thompson, Tina; Martin, Ellenore M.; Hilton, Desiree; Devery, Sophie; Wu, Kathy H.C.; Jackson, Matilda R.; Co...
Journal:
International journal of cardiology
Issue:
Volume 330(2021)
Page Start:
128
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗