Matthew J. Edwards

Nedlands, WA, Australia

Last Updated: 09/26/2026

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Found 22 publications

Adolescents, Alcohol and Other Drugs: Assessment and Withdrawal Management Guidelines in a Paediatric Hospital.

Adolescents, Alcohol and Other Drugs: Assessment and Withdrawal Management Guidelines in a Paediatric Hospital.

Journal: Journal of paediatrics and child health

Published: November 11, 2024

Implementing the electronic HEEADSSS screening tool in a paediatric emergency department.

Implementing the electronic HEEADSSS screening tool in a paediatric emergency department.

Journal: Emergency medicine Australasia : EMA

Published: September 16, 2024

EED related overgrowth: First report of multiple members in a single family.

EED related overgrowth: First report of multiple members in a single family.

Journal: American journal of medical genetics. Part A

Published: June 27, 2023

Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.

Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.

Journal: American journal of medical genetics. Part A

Published: January 20, 2023

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.

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

Published: March 19, 2022

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

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

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

Journal: JAMA

Published: June 24, 2020

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.

Journal: Journal of medical genetics

Published: February 13, 2020

Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092).

Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092).

Journal: Cold Spring Harbor molecular case studies

Published: June 28, 2019

Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.

Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.

Journal: Human molecular genetics

Published: June 27, 2019

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.

Journal: Clinical epigenetics

Published: April 19, 2018

Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.

Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.

Journal: Molecular genetics & genomic medicine

Published: December 11, 2017

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Last Updated: 09/26/2026