Alison Y. Yeung

Melbourne, VIC, Australia

Last Updated: 09/26/2026

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Found 33 publications

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Journal: Genome medicine

Published: May 20, 2025

Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study.

Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study.

Journal: Nature medicine

Published: May 07, 2025

Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol.

Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol.

Journal: BMJ open

Published: April 03, 2024

Gene selection for genomic newborn screening: Moving toward consensus?

Gene selection for genomic newborn screening: Moving toward consensus?

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

Published: October 06, 2023

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

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

Journal: American journal of human genetics

Published: December 14, 2022

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.

Journal: American journal of medical genetics. Part A

Published: February 20, 2022

Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children.

Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children.

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

Published: September 09, 2021

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.

Journal: Journal of medical genetics

Published: May 02, 2021

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.

Journal: American journal of human genetics

Published: April 26, 2021

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

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

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

Published: March 24, 2021

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.

Journal: Human mutation

Published: March 16, 2021

Showing 1-12 of 33

Last Updated: 09/26/2026