Lisa Ewans

New South Wales Department of Health — Australia

Biochemistry, Genetics and Molecular Biology · Life Sciences

16h-index1.5kcitations39works13.22yr avg
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Research Topics

Genomics and Rare Diseases(16), Genomic variations and chromosomal abnormalities(8), Genetics and Neurodevelopmental Disorders(8), RNA modifications and cancer(5), Sexual Differentiation and Disorders(5)

Publications36 total

I've Never Heard of This! An Approach to Child and Family‐Centred Care for Children and Young People With Rare Diseases
Journal of Paediatrics and Child Health·2025Open Access
Biallelic variants in <i>RNU2-2</i> cause a remarkably frequent developmental epileptic encephalopathy
2025· 3 citedOpen Access
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans
The American Journal of Human Genetics·2025· 5 citedOpen Access
P537: First report of two cases of ReNU (RENU) syndrome from Southeast Asia
Genetics in Medicine Open·2025Open Access
Report of two cases of snRNA gene RNU4-2 related syndromic intellectual disability from Southeast Asia
Rare·2024Open Access
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Nature·2024· 94 citedOpen Access
Table of Contents
Genetics in Medicine·2024
<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disorders
2024· 10 citedOpen Access
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
Genetics in Medicine·2024· 7 citedOpen Access
International Undiagnosed Diseases Programs (UDPs): components and outcomes
Orphanet Journal of Rare Diseases·2023· 12 citedOpen Access
Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome
American Journal of Neuroradiology·2022· 5 citedOpen Access
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
European Journal of Human Genetics·2022· 110 citedOpen Access
Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis
Genetics in Medicine·2022· 63 cited
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
Genetics in Medicine·2021· 99 citedOpen Access
<i>MERTK</i> retinopathy: biomarkers assessing vision loss
Ophthalmic Genetics·2021· 6 cited
Clinically Responsive Genomic Analysis Pipelines
Journal of Molecular Diagnostics·2021· 10 cited
Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability
Human Mutation·2021· 1 cited
Recurrent <i>TTN</i> metatranscript‐only c.39974–11T&gt;G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy
Human Mutation·2019· 44 citedOpen Access
Missense variants in <i>TAF1</i> and developmental phenotypes: Challenges of determining pathogenicity
Human Mutation·2019· 28 citedOpen Access
A deep intronic <i>SMARCB1</i> variant associated with schwannomatosis
Clinical Genetics·2019· 11 citedOpen Access
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Frequent Co-authors

Tony Roscioli(13), David Mowat(9), Rani Sachdev(8), Elizabeth E. Palmer(8), Tiong Yang Tan(7), Edwin P. Kirk(7), Michael F. Buckley(7), Janine Smith(6), Jozef Gécz(6), Ying Zhu(6), Michael Field(6), Lesley C. Adès(6), Meredith Wilson(6), Zornitza Stark(6), Thomas Ohnesorg(5), Matthew F. Hunter(5), Katie Ayers(5), Andrew Sinclair(5), Deborah Schofield(5), Marcel E. Dinger(5)