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Laura Wedd

Dr Laura Wedd

Variant Curator

Selected Publications

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2023
NPJ genomic medicine10.1038/s41525-023-00362-z
Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD.
Yvonne Hort, Patricia Sullivan, Laura Wedd, Lindsay Fowles, Igor Stevanovski, Ira Deveson, Cas Simons, Andrew Mallett, Chirag Patel, Timothy Furlong, Mark J Cowley, John Shine, Amali Mallawaarachchi
2023
Journal of community genetics10.1007/s12687-023-00644-0
Exploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study.
Laura Wedd, Margaret Gleeson, Bettina Meiser, Rosie O'Shea, Kristine Barlow-Stewart, Amanda B Spurdle, Paul James, Jane Fleming, Cassandra Nichols, Rachel Austin, Elisa Cops, Melissa Monnik, Judy Do, Rajneesh Kaur

See all Garvan publications