Clara Gaff

The impact of coding germline variants on contralateral breast cancer risk and survival.

Anna Morra, Nasim Mavaddat, Taru A Muranen, Thomas U Ahearn, Jamie Allen, Irene L Andrulis, Päivi Auvinen, Heiko Becher, Sabine Behrens, Carl Blomqvist, Stig E Bojesen, Manjeet K Bolla, Hiltrud Brauch, Nicola J Camp, Sara Carvalho, Jose E Castelao, Melissa H Cessna, Jenny Chang-Claude, Georgia Chenevix-Trench, undefined NBCS Collaborators, et al.

Journal article  |  2023  |  Am J Hum Genet

Evidence linking coding germline variants in breast cancer (BC)-susceptibility genes other than BRCA1, BRCA2, and CHEK2 with contr..

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

Zornitza Stark, Tiffany Boughtwood, Matilda Haas, Jeffrey Braithwaite, Clara L Gaff, Ilias Goranitis, Amanda B Spurdle, David P Hansen, Oliver Hofmann, Nigel Laing, Sylvia Metcalfe, Ainsley J Newson, Hamish S Scott, Natalie Thorne, Robyn L Ward, Marcel E Dinger, Stephanie Best, Janet C Long, Sean M Grimmond, John Pearson, et al.

Journal article  |  2023  |  Am J Hum Genet

Australian Genomics is a national collaborative partnership of more than 100 organizations piloting a whole-of-system approach to ..

Offering and Returning Secondary Findings in the Context of Exome Sequencing for Hearing Loss: Clinicians' Views and Experiences.

Lauren Notini, Clara Gaff, Julian Savulescu, Danya F Vears

Journal article  |  2023  |  AJOB Empir Bioeth

BACKGROUND: There is ongoing debate regarding whether and under which circumstances secondary findings (SF) should be offered in t..

Comparing Survival Outcomes for Advanced Cancer Patients Who Received Complex Genomic Profiling Using a Synthetic Control Arm

Sophie O'Haire, Koen Degeling, Fanny Franchini, Ben Tran, Stephen J Luen, Clara Gaff, Kortnye Smith, Stephen Fox, Jayesh Desai, Maarten IJzerman

Journal article  |  2022  |  TARGETED ONCOLOGY

BACKGROUND: Complex genomic profiling (CGP) has transformed cancer treatment decision making, yet there is a lack of robust and qu..

Genetics follow up after rapid genomic sequencing in intensive care: current practices and recommendations for service delivery

Fiona Lynch, Amy Nisselle, Zornitza Stark, Clara L Gaff, Belinda McClaren

Journal article  |  2022  |  EUROPEAN JOURNAL OF HUMAN GENETICS

The delivery of rapid genomic sequencing (rGS) to critically unwell children in intensive care occurs at a time of immense pressur..

Structured approaches to implementation of clinical genomics: A scoping review

Helen L Brown, Isabella A Sherburn, Clara Gaff, Natalie Taylor, Stephanie Best

Journal article  |  2022  |  GENETICS IN MEDICINE

PURPOSE: This study aimed to assess the extent to which structured approaches to implementation of clinical genomics, proposed or ..

Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children

Ilias Goranitis, You Wu, Sebastian Lunke, Susan M White, Tiong Y Tan, Alison Yeung, Matthew F Hunter, Melissa Martyn, Clara Gaff, Zornitza Stark

Journal article  |  2022  |  GENETICS IN MEDICINE

PURPOSE: To evaluate whether the additional cost of providing increasingly faster genomic results in pediatric critical care is ou..

Response to Dwyer et al.

Clara Gaff, Amy Nisselle

Journal article  |  2022  |  Genet Med

Developing a genomic-competent physician workforce: immersive and structured experiences as part of a multi-faceted approach

Melissa Martyn, Elly Lynch, Fran Maher, Taryn Charles, Callum McEwan, Belinda McClaren, Monika Janinski, Fiona Cunningham, Robyn McNeil, Amy Niselle, Clara Gaff

Conference Proceedings  |  2022  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S Akesson, Mohammad Al-Shinnag, Stephen Alexander, Alison D Archibald, Shanti Balasubramaniam, Yemima Berman, Victoria Beshay, Kirsten Boggs, Jasmina Bojadzieva, Natasha J Brown, Samantha J Bryen, Michael F Buckley, Belinda Chong, Mark R Davis, Ruebena Dawes, Martin Delatycki, et al.

Journal article  |  2022  |  GENETICS IN MEDICINE

PURPOSE: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genet..