Concepedia

Lisa Ewans

LE

15

Publications

1.2K

Citations

12

H-Index

2006

Active since

Affiliations

UNSW Sydney(Current)

The University of Sydney

Children's Hospital at Westmead

Garvan Institute of Medical Research

Murdoch Children's Research Institute

Lisa Ewans is an author at UNSW Sydney specializing in medicine, genetics, and bioinformatics.

ORCID

Top concepts

Publications per year

2006–2024

15

Publications

15

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Stefanie Eggers, Simon Sadedin, Jocelyn A. van den Bergen et al. · Genome biology · 2016 · 382 citations · Full text

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

Lisa Ewans, Deborah Schofield, Rupendra Shrestha et al. · Genetics in Medicine · 2018 · 191 citations

, , +11

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

Lisa Ewans, André E. Minoche, Deborah Schofield et al. · European Journal of Human Genetics · 2022 · 110 citations · Full text

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 · 99 citations

, , +11

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · Nature · 2024 · 93 citations · Full text

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