Author

Matilda R. Jackson

South Australia PathologyORCID 0000-0001-7547-7653Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Christopher BarnettiD· 2 shared Hamish S. ScottiD· 2 shared Abbe LaiiD· 1 shared Alan H. BeggsiD· 1 shared Alejandro Metke· 1 shared Alessandra BrayiD· 1 shared Alicia B. ByrneiD· 1 shared Alison G. ComptoniD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Christopher BarnettORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 7, 2026

Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology

Mugdha Singh, Sarah L. Stenton, Emily Groopman…·Sanna Gudmundsson

The paper evaluates incomplete penetrance in 4,325 rare disease families, finding 1.6% of diagnosed cases involve inherited variants from unaffected parents and showing divergent transcriptional effects in CHD8-related cases.

1 citation

humanbulk RNA-seq

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Molecular BiologyAmerican Journal of Obstetrics and GynecologyPeer-reviewedAug 29, 2025

Circular RNAs accumulate in ageing human placental tissue and in stillbirth, leading to DNA damage and cellular senescence

Anya L. Arthurs, Matilda R. Jackson, Dylan McCullough…·Claire Trelford Roberts

This study shows that circular RNAs accumulate in aged human placental tissue and in stillbirth cases, causing DNA damage and cellular senescence, and suggests they could be used for stillbirth risk screening.

6 citations

humanbulk RNA-seq

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedSep 19, 2024

The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses

Rocío Rius, Alison G. Compton, Naomi L. Baker…·David Ross Thorburn

The paper evaluates the diagnostic effectiveness of genomic sequencing in mitochondrial diseases using blood samples, finding a 55% diagnostic yield with higher rates in pediatric cases.

11 citations

humanwhole-exome sequencing

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