David L. Mowat

Sydney, NSW, Australia

Last Updated: 09/26/2026

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Found 74 publications

Whole Genome Sequencing Reveals a RET Enhancer Risk Haplotype Associated with Hirschsprung Disease in Mowat Wilson Syndrome.

Whole Genome Sequencing Reveals a RET Enhancer Risk Haplotype Associated with Hirschsprung Disease in Mowat Wilson Syndrome.

Journal: medRxiv : the preprint server for health sciences

Published: April 03, 2026

Changes in chronic disease prevention resources and activities in Canada during the COVID-19 pandemic.

Changes in chronic disease prevention resources and activities in Canada during the COVID-19 pandemic.

Journal: Health promotion and chronic disease prevention in Canada : research, policy and practice

Published: August 20, 2025

Two decades of change: The evolution of Canadian public health organizations in chronic disease prevention, 2004-2023.

Two decades of change: The evolution of Canadian public health organizations in chronic disease prevention, 2004-2023.

Journal: Canadian journal of public health = Revue canadienne de sante publique

Published: July 31, 2025

Diagnosis and Management of Children With Tuberous Sclerosis Complex.

Diagnosis and Management of Children With Tuberous Sclerosis Complex.

Journal: Journal of paediatrics and child health

Published: April 16, 2025

Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" Cohort.

Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" Cohort.

Journal: Molecular genetics & genomic medicine

Published: June 27, 2024

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.

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

Published: March 20, 2024

Clues for Early Diagnosis of MEN2B Syndrome Before Medullary Thyroid Carcinoma.

Clues for Early Diagnosis of MEN2B Syndrome Before Medullary Thyroid Carcinoma.

Journal: Pediatrics

Published: November 11, 2023

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

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

Published: June 30, 2023

SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.

SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.

Journal: Nature communications

Published: January 25, 2023

The role of exome sequencing in childhood interstitial or diffuse lung disease.

The role of exome sequencing in childhood interstitial or diffuse lung disease.

Journal: Orphanet journal of rare diseases

Published: April 29, 2022

A longitudinal study of change in substance use from before to during the COVID-19 pandemic in young adults.

A longitudinal study of change in substance use from before to during the COVID-19 pandemic in young adults.

Journal: Lancet regional health. Americas

Published: April 26, 2022

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.

Journal: American journal of medical genetics. Part A

Published: February 20, 2022

Showing 1-12 of 74

Last Updated: 09/26/2026