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Author/Creator Susman, Rachel

1. Bayesian approach to determining penetrance of pathogenic SDH variants. Issue 11 (10th September 2018)

Authors:
Benn, Diana E; Zhu, Ying; Andrews, Katrina A; Wilding, Mathilda; Duncan, Emma L; Dwight, Trisha; Tothill, Richard W; Burgess, John; Crook, Ashley; Gill, Anthony J; Hicks, Rodney J; Kim, Edward; Luxford, Catherine; Marfan, Helen; Richardson, Anne Louise; Robinson, Bruce; Schlosberg, Arran; Susman,...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 11(2018)
Page Start:
729
Record Type:
Journal Article
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2. Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility. Issue 12 (9th November 2020)

Authors:
Tudini, Emma; Davidson, Aimee L; Dressel, Uwe; Andrews, Lesley; Antill, Yoland; Crook, Ashley; Field, Michael; Gattas, Michael; Harris, Rebecca; Kirk, Judy; Pachter, Nicholas; Salmon, Lucinda; Susman, Rachel; Townshend, Sharron; Trainer, Alison H; Tucker, Katherine M; Mitchell, Gillian; James, Pa...
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 12(2021)
Page Start:
853
Record Type:
Journal Article
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3. 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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5. 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) ↗