Ellie J. Maas
Brisbane, QLD, Australia
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 16 publications
AK8 deficiency causes primary ciliary dyskinesia by disrupting energy homeostasis in the airways.
Journal: American journal of respiratory and critical care medicine
Published: February 26, 2026
Genotype- dermatological phenotype correlations in CDKN2A, POT1, POLE, BAP1 variant carriers using 3D total-body-imaging.
Journal: The British journal of dermatology
Published: December 16, 2025
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
MITF E318K naevus phenotype: The modifying role of MC1R red hair variants.
Journal: The Journal of investigative dermatology
Published: October 31, 2025
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
SAFE: Safety of procedural sedation and analgesia administration in the fast-track area of the emergency department.
Journal: Emergency medicine Australasia : EMA
Published: July 17, 2024
Prevalence of high-risk melanoma variants in early-onset and/or multiple primary melanoma in an Australian cohort.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: April 18, 2024
Genetic testing for familial melanoma.
Journal: Italian journal of dermatology and venereology
Published: January 30, 2024
The ATM Ser49Cys Variant Effects ATM Function as a Regulator of Oncogene-Induced Senescence.
Journal: International journal of molecular sciences
Published: November 28, 2023
POT1 and multiple primary melanomas: the dermatological phenotype.
Journal: Journal of medical genetics
Published: September 14, 2023
GOLM1: expanding our understanding of melanoma susceptibility.
Journal: Journal of medical genetics
Published: April 20, 2023
MITF E318K: A rare homozygous case with multiple primary melanoma.
Journal: Pigment cell & melanoma research
Published: April 17, 2023
Last Updated: 09/26/2026