Miss Emily DeBortoli
Casual Genetic Counsellor
Frazer Institute
Affiliate of Dermatology Research Centre
Dermatology Research Centre
+61 7 344 34257
Publications
Journal Articles
DeBortoli, Emily, McInerney-Leo, Aideen, Macintosh, Rebecca, Zelnick, Michelle, Gray, Paul, McNaughton, Peter and Yanes, Tatiane (2025). Genetic counseling in pediatric inborn errors of immunity: Perspective piece on current practice and considerations. The Journal of Allergy and Clinical Immunology: In Practice. doi: 10.1016/j.jaip.2025.03.052
Debortoli, Emily, McGahan, Ella, Yanes, Tatiane, Berkman, Jennifer, Fuentes-Bolanos, Noemi, Milch, Vivienne, Steinberg, Julia and Mcinerney-Leo, Aideen (2025). Utility of genomic testing in children, adolescents, and young adults with cancer. JNCI: Journal of the National Cancer Institute, 117 (4), 601-610. doi: 10.1093/jnci/djae233
Berkman, Jennifer, DeBortoli, Emily, Steinberg, Julia, Milch, Vivienne, Yanes, Tatiane and McInerney‐Leo, Aideen (2025). Mainstreaming cancer genomic testing: a scoping review of the acceptability, efficacy, and impact. Clinical Genetics, 107 (2), 123-135. doi: 10.1111/cge.14660
McInerney-Leo, A., DeBortoli, E., Primiero, C., Wallingford, C., Berkman, J., Yanes, T., Finnane, A. and Soyer, H.P. (2025). Mainstreaming melanoma genetic testing: Participant outcomes comparable when testing is provided by dermatologists and genetic counsellors. EJC Skin Cancer, 3 100505, 100505. doi: 10.1016/j.ejcskn.2025.100505
Dane, Aimee, Berkman, Jennifer, DeBortoli, Emily, Wallingford, Courtney K., Yanes, Tatiane and McInerney‐Leo, Aideen (2024). Narrative therapy and family therapy in genetic counseling: a scoping review. Journal of Genetic Counseling, 34 (2) e1938. doi: 10.1002/jgc4.1938
Maas, Ellie J., DeBortoli, Emily, Nathan, Vaishnavi, Freeman, Ned P., Mothershaw, Adam, Smit, Darren J., Betz-Stablein, Brigid, Aoude, Lauren G., Stark, Mitchell S., Sturm, Richard A., Soyer, H. Peter and McInerney-Leo, Aideen M. (2024). POT1 and multiple primary melanomas: the dermatological phenotype. Journal of Medical Genetics, 61 (9) jmg-2023-109637, 1-4. doi: 10.1136/jmg-2023-109637
Wallingford, Courtney K., Maas, Ellie J., Howard, Antonia, DeBortoli, Emily, Bhanja, Deboshmita, Lee, Katie, Mothershaw, Adam, Jagirdar, Kasturee, Willett, Rod, Betz‐Stablein, Brigid, Sturm, Richard A., Soyer, H. Peter and McInerney‐Leo, Aideen M. (2023). MITF E318K: A rare homozygous case with multiple primary melanoma. Pigment Cell & Melanoma Research, 37 (1), 68-73. doi: 10.1111/pcmr.13122
Maas, Ellie J., Wallingford, Courtney K., DeBortoli, Emily, Smit, Darren J., Betz-Stablein, Brigid, Aoude, Lauren G., Stark, Mitchell S., Sturm, Richard A., Soyer, H. Peter and McInerney-Leo, Aideen M. (2023). GOLM1: expanding our understanding of melanoma susceptibility. Journal of Medical Genetics, 60 (9) jmg-2023-109348, 1-3. doi: 10.1136/jmg-2023-109348
DeBortoli, Emily, Soyer, H. Peter, Milne, David, Dissanayaka, Nadeeka, Gartner, Coral, Holt, Jeanette, Rae, Kym, Robison, Laura, Wallingford, Courtney K. and McInerney-Leo, Aideen M. (2022). Measurable outcomes of consumer engagement in health research: A scoping review. Frontiers in Public Health, 10 994547, 1-10. doi: 10.3389/fpubh.2022.994547