Di Milnes
Brisbane, QLD, Australia
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 15 publications
Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE.
Journal: NPJ genomic medicine
Published: July 10, 2025
Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE.
Journal: medRxiv : the preprint server for health sciences
Published: July 09, 2025
Returning raw genomic data to research participants in a pediatric cancer precision medicine trial.
Journal: NPJ genomic medicine
Published: May 02, 2024
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
Journal: Journal of medical genetics
Published: October 19, 2023
Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth.
Journal: Prenatal diagnosis
Published: July 02, 2023
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
Journal: medRxiv : the preprint server for health sciences
Published: March 13, 2023
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
Journal: Journal of translational medicine
Published: February 09, 2023
Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome.
Journal: Frontiers in genetics
Published: January 02, 2023
Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.
Journal: Differentiation; research in biological diversity
Published: September 15, 2022
Oral characteristics in adult individuals with periodontal Ehlers-Danlos syndrome.
Journal: Journal of clinical periodontology
Published: January 28, 2022
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 24, 2021
Last Updated: 09/26/2026