David J. Amor

Australia

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Articles (19)

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2025

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2023

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2022

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2022

Collaborators (12)

Sylvia Metcalfe

Professor in Medical Genetics

University of Melbourne

AUSTRALIA

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Stefan Barakat

Associate professor

Erasmus MC

NETHERLANDS

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David Godler

Associate Professor / Principal Fellow

University of Melbourne

AUSTRALIA

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Zornitza Stark

AUSTRALIA

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James Pitt

Head of Newborn & Metabolic Screening

Murdoch Childrens Research Institute

AUSTRALIA

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Kate MacKinnon Milner

University of Melbourne

AUSTRALIA

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Himanshu Goel

University of Newcastle Australia

AUSTRALIA

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Ronda Greaves

Honorary Principal Fellow - Associate Professor

University of Melbourne

AUSTRALIA

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Angela Morgan

University of Melbourne

AUSTRALIA

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Julian N. Trollor

University of New South Wales

AUSTRALIA

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Margarita Moreno-Betancur

Professor of Biostatistics

University of Melbourne

AUSTRALIA

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Hilary Bowman-Smart

University of South Australia

AUSTRALIA

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David J. Amor

Research Interests

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Articles (19)

High-throughput assessment of FMR1 and SNRPN methylation-based newborn screening using IsoPure and QIAcube HT systems

From screening to strategy: Clinical implications of COL4A3/COL4A4 variants found in reproductive genetic testing

Hexasomy of the 15q11q13 region: a detailed report and review of the literature

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

Adaptive functioning in children and young adults with monogenic neurodevelopmental disorders

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

Parental attitudes and experiences in pursuing genetic testing for their child’s motor speech disorder

Research Themes in KAT6A Syndrome: A Scoping Review

Statistical analysis of observational studies in disability research

An Investigation of Barriers and Enablers for Genetics in Speech-Language Pathology Explored Through a Case Study of Childhood Apraxia of Speech

Non-Invasive Prenatal Testing for “Non-Medical” Traits: Ensuring Consistency in Ethical Decision-Making

Further delineation of dosage‐sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance

Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome

Causation in cerebral palsy: Parental beliefs and associated emotions

Social and physical predictors of mental health impact in adult women who have an FMR1 premutation

The association between hCG and adverse pregnancy outcomes: a systematic review and meta-analysis

Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

Collaborators (12)

Sylvia Metcalfe

Stefan Barakat

David Godler

Zornitza Stark

James Pitt

Kate MacKinnon Milner

Himanshu Goel

Ronda Greaves

Angela Morgan

Julian N. Trollor

Margarita Moreno-Betancur

Hilary Bowman-Smart

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