Matthew B. Johnson
154 Wattletree Road
Malvern, NSW 3144, Australia
Malvern, NSW 3144, Australia
Last Updated: 09/26/2026
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Found 87 publications
A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott-Rallison syndrome.
Journal: Diabetic medicine : a journal of the British Diabetic Association
Published: July 20, 2026
Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.
Journal: American journal of human genetics
Published: July 14, 2026
A Novel Pilus System in Candidate Phyla Radiation Bacteria.
Journal: bioRxiv : the preprint server for biology
Published: June 22, 2026
Genetic risk in extremely early onset type 1 diabetes.
Journal: medRxiv : the preprint server for health sciences
Published: December 25, 2025
Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.
Journal: American journal of human genetics
Published: December 01, 2025
Limited penetrance of dominantly inherited AIRE variants in a population-based cohort.
Journal: Human molecular genetics
Published: November 27, 2025
Biallelic Pathogenic Variants in IL2RA Cause Neonatal-Onset Monogenic Autoimmune Diabetes.
Journal: Diabetes
Published: October 06, 2025
Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome.
Journal: The Journal of clinical investigation
Published: May 21, 2025
Blood samples collected under anesthesia can be used as a source of non-diseased controls for immune-based assays.
Journal: Frontiers in immunology
Published: April 25, 2025
Complete Loss of PAX4 causes Transient Neonatal Diabetes in Humans.
Journal: medRxiv : the preprint server for health sciences
Published: April 16, 2025
Last Updated: 09/26/2026