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Author/Creator Dubowsky, Andrew

2. A novel GSN variant outside the G2 calcium‐binding domain associated with Amyloidosis of the Finnish type. Issue 7 (11th May 2021)

Authors:
Mullany, Sean; Souzeau, Emmanuelle; Klebe, Sonja; Zhou, Tiger; Knight, Lachlan S. W.; Qassim, Ayub; Berry, Ella C.; Marshall, Henry; Hussey, Matthew; Dubowsky, Andrew; Breen, James; Hassall, Mark M.; Mills, Richard A.; Craig, Jamie E.; Siggs, Owen M.
Journal:
Human mutation
Issue:
Volume 42:Issue 7(2021)
Page Start:
818
Record Type:
Journal Article
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3. Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort. Issue 10 (19th August 2022)

Authors:
Souzeau, Emmanuelle; Siggs, Owen M.; Mullany, Sean; Schmidt, Joshua M.; Hassall, Mark M.; Dubowsky, Andrew; Chappell, Angela; Breen, James; Bae, Haae; Nicholl, Jillian; Hadler, Johanna; Kearns, Lisa S.; Staffieri, Sandra E.; Hewitt, Alex W.; Mackey, David A.; Gupta, Aanchal; Burdon, Kathryn P.; K...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 10:Issue 10(2022)
Page Start:
n/a
Record Type:
Journal Article
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5. RNF43 pathogenic Germline variant in a family with colorectal cancer. Issue 1 (27th September 2021)

Authors:
Mikaeel, Reger R.; Young, Joanne P.; Li, Yun; Poplawski, Nicola K.; Smith, Eric; Horsnell, Mehgan; Uylaki, Wendy; Tomita, Yoko; Townsend, Amanda R.; Feng, Jinghua; Zibat, Arne; Kaulfuß, Silke; Müller, Christian; Yigit, Gökhan; Wollnik, Bernd; Scott, Hamish; Rawlings, Lesley; Henry, Denae; Vakulin...
Journal:
Clinical genetics
Issue:
Volume 101:Issue 1(2022)
Page Start:
122
Record Type:
Journal Article
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6. Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel. Issue 12 (19th October 2022)

Authors:
Burdon, Kathryn P.; Graham, Patricia; Hadler, Johanna; Hulleman, John D.; Pasutto, Francesca; Boese, Erin A.; Craig, Jamie E.; Fingert, John H.; Hewitt, Alex W.; Siggs, Owen M.; Whisenhunt, Kristina; Young, Terri L.; Mackey, David A.; Dubowsky, Andrew; Souzeau, Emmanuelle
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
2170
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗