Matilda R. Jackson
Parkville, VIC, Australia
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 26 publications
Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.
Journal: Human genomics
Published: September 10, 2025
Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death.
Journal: Clinical genetics
Published: May 15, 2025
Circular RNAs accumulate in aging human placental tissue and in stillbirth, leading to DNA damage and cellular senescence.
Journal: American journal of obstetrics and gynecology
Published: April 06, 2025
Patients' perspectives regarding health professionals contacting their relatives about genetic risk directly (with patient consent).
Journal: European journal of human genetics : EJHG
Published: July 05, 2024
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 04, 2024
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Journal: Nature medicine
Published: December 15, 2022
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: November 25, 2022
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Journal: Nature medicine
Published: December 29, 2021
Corrigendum to "Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidosis" [Molecular Genetics and Metabolism 131 (2020) pages 197-205].
Journal: Molecular genetics and metabolism
Published: December 27, 2021
Last Updated: 09/26/2026