Concepedia

Matilda R. Jackson

MR

Statistics

Publications

16

Citations

538

H-Index

13

Active since

2014

Affiliations

The University of Adelaide(Current)

South Australia Pathology

Melbourne Genomics Health Alliance

University of South Australia

The University of Melbourne

Matilda R. Jackson is an author at The University of Adelaide specializing in life sciences, molecular genetics, and genetics.

ORCID

Publications per year

2014–2023

16

Publications

16

Integrated multi-omics for rapid rare disease diagnosis on a national scale

Sebastian Lunke, Sophie E. Bouffler, Chirag Patel et al. · Nature Medicine · 2023 · 141 citations · Full text

, , +17

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 104 citations · Full text

, , +17

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Alicia B. Byrne, Peer Arts, Thuong Ha et al. · Nature Medicine · 2023 · 63 citations · Full text

, , +17

Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis

Susan J. Hinze, Matilda R. Jackson, Shervi Lie et al. · Translational Psychiatry · 2017 · 39 citations · Full text

, , +17

Heterozygous loss of function of <i>IQSEC2</i>/<i>Iqsec2</i> leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females

Matilda R. Jackson, Karagh E. Loring, Claire C. Homan et al. · Life Science Alliance · 2019 · 22 citations · Full text

, , +17

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