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Michelle de Silva

Murdoch Childrens Research Institute

Australia

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Research Interests

Cardiology

20%

Neurology

20%

Medical Science

90%

Next-generation Sequencing

40%

Rare Disease

40%

Neonatology

30%

Genomic

20%

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Articles17

The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses.

Article Link

Year:

2025

Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia

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Year:

2025

Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or PIK3CA-related overgrowth spectrum

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Year:

2024

Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations

Article Link

Year:

2024

A national education program for rapid genomics in pediatric acute care: Building workforce confidence, competence, and capability

Article Link

Year:

2024

Anything is better than nothing’: exploring attitudes towards novel therapies in leukodystrophy clinical trials

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Year:

2024

Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program

Article Link

Year:

2024

Australian healthcare professionals' perspectives on genetic counseling and genetic diagnosis in vascular anomalies

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Year:

2023

“It's fundamental to the work that we do”: Genetic counselors' perceptions of their role in clients' mental well‐being

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Year:

2023

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice

Article Link

Year:

2023

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

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Year:

2022

Microarray diagnosis of autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy caused by a novel homozygous intragenic AIRE deletion

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Year:

2021

Investigation of current models of care for genetic heart disease in Australia: A national clinical audit

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Year:

2021

Understanding genomic health information: how to meet the needs of the culturally and linguistically diverse community—a mixed methods study

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Year:

2021

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children with Suspected Monogenic Conditions in the Australian Public Health Care System

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Year:

2020

Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the australian public health care system

Article Link

Year:

2020

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

Article Link

Year:

2020

Collaborators10

Stephanie Best

Associate Professor

University of Melbourne

AUSTRALIA

David Arthur Stroud

Associate Professor

University of Melbourne

AUSTRALIA

Susan Robertson

Murdoch Childrens Research Institute

AUSTRALIA

Catherine Riney

University of Queensland

AUSTRALIA

Shekeeb S. Mohammad

AUSTRALIA

david thorburn

Murdoch Childrens Research Institute

AUSTRALIA

Lauren Hunt

Chief Operating Officer

AUSTRALIA

Deepak Gill

Clinical Senior lecturer

University of Sydney

AUSTRALIA

Matthew Hunter

Head of Department

Monash Health

AUSTRALIA

Belinda Chong

Head of Clinical Genomics

AUSTRALIA

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