Emily Debortoli

Brisbane, QLD, Australia

Last Updated: 09/26/2026

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Found 14 publications

Genotype-dermatological phenotype correlations in CDKN2A, POT1, POLE and BAP1 variant carriers using three-dimensional total-body imaging.

Genotype-dermatological phenotype correlations in CDKN2A, POT1, POLE and BAP1 variant carriers using three-dimensional total-body imaging.

Journal: The British journal of dermatology

Published: December 16, 2025

"It's a Godsend": Parental experiences of genomic testing for paediatric inborn errors of immunity.

"It's a Godsend": Parental experiences of genomic testing for paediatric inborn errors of immunity.

Journal: European journal of human genetics : EJHG

Published: May 15, 2025

Germline CDKN2A Variant Cascade Testing Across Four Generations Reveals Familial Melanoma-Breast Cancer Genotype-Phenotype Correlation.

Germline CDKN2A Variant Cascade Testing Across Four Generations Reveals Familial Melanoma-Breast Cancer Genotype-Phenotype Correlation.

Journal: Pigment cell & melanoma research

Published: March 31, 2025

Consumer and community involvement in health research: evaluation of researcher training workshops.

Consumer and community involvement in health research: evaluation of researcher training workshops.

Journal: Public health research & practice

Published: February 12, 2025

Consumer and community involvement in health research in Australia: evaluation of researcher training workshops.

Consumer and community involvement in health research in Australia: evaluation of researcher training workshops.

Journal: Public health research & practice

Published: February 12, 2025

Utility of Germline, Somatic and ctDNA Testing in Adults With Cancer.

Utility of Germline, Somatic and ctDNA Testing in Adults With Cancer.

Journal: Cancer medicine

Published: November 03, 2024

Genetic Counseling in Pediatric Inborn Errors of Immunity: Perspective Piece on Current Practice and Considerations.

Genetic Counseling in Pediatric Inborn Errors of Immunity: Perspective Piece on Current Practice and Considerations.

Journal: The journal of allergy and clinical immunology. In practice

Published: October 17, 2024

Mainstreaming Cancer Genomic Testing: A Scoping Review of the Acceptability, Efficacy, and Impact.

Mainstreaming Cancer Genomic Testing: A Scoping Review of the Acceptability, Efficacy, and Impact.

Journal: Clinical genetics

Published: September 10, 2024

Utility of genomic testing in children, adolescents, and young adults with cancer.

Utility of genomic testing in children, adolescents, and young adults with cancer.

Journal: Journal of the National Cancer Institute

Published: June 27, 2024

Narrative therapy and family therapy in genetic counseling: A scoping review.

Narrative therapy and family therapy in genetic counseling: A scoping review.

Journal: Journal of genetic counseling

Published: March 04, 2024

POT1 and multiple primary melanomas: the dermatological phenotype.

POT1 and multiple primary melanomas: the dermatological phenotype.

Journal: Journal of medical genetics

Published: September 14, 2023

GOLM1: expanding our understanding of melanoma susceptibility.

GOLM1: expanding our understanding of melanoma susceptibility.

Journal: Journal of medical genetics

Published: April 20, 2023

Showing 1-12 of 14

Last Updated: 09/26/2026