David A. Stroud

50 Flemington Road
Parkville, VIC 3052, Australia

Last Updated: 09/26/2026

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Found 102 publications

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.

Journal: Clinical genetics

Published: May 07, 2026

Delineation and Phenotypic Expansion of TOP3A-Related Mitochondrial Disease in Childhood.

Delineation and Phenotypic Expansion of TOP3A-Related Mitochondrial Disease in Childhood.

Journal: American journal of medical genetics. Part A

Published: March 09, 2026

NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment.

NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment.

Journal: Journal of inherited metabolic disease

Published: March 04, 2026

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics.

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics.

Journal: American journal of medical genetics. Part A

Published: January 27, 2026

Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics.

Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics.

Journal: JIMD reports

Published: December 29, 2025

Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.

Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.

Journal: American journal of human genetics

Published: October 09, 2025

HSD17β11 regulates PLIN5-ATGL mediated lipolysis, but not hepatic lipid metabolism in mice.

HSD17β11 regulates PLIN5-ATGL mediated lipolysis, but not hepatic lipid metabolism in mice.

Journal: Journal of lipid research

Published: August 26, 2025

Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

Journal: Annals of neurology

Published: August 25, 2025

Complex II assembly drives metabolic adaptation to OXPHOS dysfunction.

Complex II assembly drives metabolic adaptation to OXPHOS dysfunction.

Journal: Science advances

Published: August 15, 2025

ASAP-ID: Proximity Labelling With Small Tags.

ASAP-ID: Proximity Labelling With Small Tags.

Journal: Molecular & cellular proteomics : MCP

Published: August 03, 2025

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

Journal: medRxiv : the preprint server for health sciences

Published: July 17, 2025

Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome.

Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome.

Journal: American journal of medical genetics. Part A

Published: July 17, 2025

Showing 1-12 of 102

Last Updated: 09/26/2026