Lilian Downie

Parkville, VIC 3052, Australia

Last Updated: 09/26/2026

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Found 56 publications

The Genetic Causes of Auditory Neuropathy: A Systematic Review.

The Genetic Causes of Auditory Neuropathy: A Systematic Review.

Journal: Journal of clinical medicine

Published: April 23, 2026

Scaling up genomic newborn screening: implementation lessons from the BabyScreen+ study.

Scaling up genomic newborn screening: implementation lessons from the BabyScreen+ study.

Journal: European journal of human genetics : EJHG

Published: January 31, 2026

How parents decide whether to have genomic newborn screening: experiences from BabyScreen.

How parents decide whether to have genomic newborn screening: experiences from BabyScreen.

Journal: European journal of human genetics : EJHG

Published: January 29, 2026

Australian parents' perspectives on extended genomic screening: what information to return and when?

Australian parents' perspectives on extended genomic screening: what information to return and when?

Journal: European journal of human genetics : EJHG

Published: December 17, 2025

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.

Journal: Human molecular genetics

Published: November 07, 2025

Genomic Testing Access for Hearing Loss Must Catch Up to the Evidence.

Genomic Testing Access for Hearing Loss Must Catch Up to the Evidence.

Journal: The Medical journal of Australia

Published: October 20, 2025

Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study.

Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study.

Journal: NPJ genomic medicine

Published: August 16, 2025

Impact of a digital platform on genetic counselling encounters in the screening context.

Impact of a digital platform on genetic counselling encounters in the screening context.

Journal: European journal of human genetics : EJHG

Published: July 11, 2025

Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study.

Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study.

Journal: European journal of human genetics : EJHG

Published: July 07, 2025

A de novo WBP11 Pathogenic Variant in a Fetus With Cystic Brain Malformation and Growth Restriction.

A de novo WBP11 Pathogenic Variant in a Fetus With Cystic Brain Malformation and Growth Restriction.

Journal: Prenatal diagnosis

Published: July 04, 2025

Implementing Publicly Funded Fetal Exome Sequencing: A Statewide Multidisciplinary Model for Equitable Integration of Genomics Into Perinatal Care.

Implementing Publicly Funded Fetal Exome Sequencing: A Statewide Multidisciplinary Model for Equitable Integration of Genomics Into Perinatal Care.

Journal: Prenatal diagnosis

Published: June 05, 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

Showing 1-12 of 56

Last Updated: 09/26/2026