Author

Lisa Ewans

Garvan Institute of Medical ResearchORCID 0000-0001-8419-5666Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:ATAC-seq· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:GWAS / association mapping· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Cas SimonsiD· 2 shared Rani SachdeviD· 2 shared Rocío RiusiD· 2 shared Adam T. PiersiD· 1 shared Alan S. MaiD· 1 shared Alexandra ButtersiD· 1 shared Alexandra C Martin-GearyiD· 1 shared Alicia LjungdahliD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Cas SimonsORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 24, 2026

SECISBP2 Deficiency Causes a Lethal Perinatal Cardiomyopathy

Carlos C. Smith-Díaz, Natasha Henden, Natalie P. Stewart…·Jodie Ingles

This study identifies a homozygous SECISBP2 variant causing lethal perinatal cardiomyopathy through loss of selenoprotein function, including GPX4, and suggests a ferroptosis mechanism.

DOI 10.64898/2026.07.22.26358709

humanstatistical model

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Genetic & Genomic MedicineNaturePeer-reviewedJul 11, 2024

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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim…·David H. Viskochil

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.

156 citationstop 1%

humanwhole-genome sequencing

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