Alison Yeung
Honorary Senior Fellow
Department of Paediatrics
39 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies
DOI: 10.1186/s13073-026-01639-52026
Journal article
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics
DOI: 10.1002/ajmg.a.701912025
Journal article
Feasibility, acceptability and clinical outcomes of the BabyScreen genomic newborn screening study
DOI: 10.1038/s41591-025-03986-z2024
Journal article
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
DOI: 10.1016/j.gim.2024.1010762024
Journal article
Gene selection for genomic newborn screening: Moving toward consensus?
DOI: 10.1016/j.gim.2024.1010772024
Journal article
Prospective cohort study of genomic newborn screening: BabyScreen pilot study protocol
DOI: 10.1136/bmjopen-2023-0814262023
Journal article
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
DOI: 10.1016/j.ajhg.2023.03.016
RECENT SCHOLARLY WORKS
2022
Journal article
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome
DOI: 10.1002/ajmg.a.629502022
Journal article
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program
DOI: 10.1136/jmedgenet-2021-1079022022
Journal article
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
DOI: 10.1136/jmedgenet-2020-107462