Lisa J. Ewans

Sydney, NSW, Australia

Last Updated: 09/26/2026

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Found 32 publications

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: May 18, 2026

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Journal: Nature genetics

Published: September 02, 2025

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

I've Never Heard of This! An Approach to Child and Family-Centred Care for Children and Young People With Rare Diseases.

I've Never Heard of This! An Approach to Child and Family-Centred Care for Children and Young People With Rare Diseases.

Journal: Journal of paediatrics and child health

Published: May 02, 2025

International Clinical Evidence-based Guideline for Kleefstra Syndrome.

International Clinical Evidence-based Guideline for Kleefstra Syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 14, 2025

International clinical evidence-based guideline for Kleefstra syndrome.

International clinical evidence-based guideline for Kleefstra syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 14, 2025

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

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

Journal: medRxiv : the preprint server for health sciences

Published: April 22, 2024

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

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

Journal: Nature

Published: April 07, 2024

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 30, 2023

International Undiagnosed Diseases Programs (UDPs): components and outcomes.

International Undiagnosed Diseases Programs (UDPs): components and outcomes.

Journal: Orphanet journal of rare diseases

Published: April 27, 2023

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.

Journal: American journal of human genetics

Published: April 20, 2023

Showing 1-12 of 32

Last Updated: 09/26/2026