Matthew B Johnson

13PUBLICATIONS
51CO-AUTHORS
AutoimmunityPeripheral nervous systemGene and molecular therapyInfant and child healthNeurogenetics
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Publications (13)

|Feb 27, 2026
Biallelic Pathogenic Variants in IL2RA Cause Neonatal-Onset Monogenic Autoimmune Diabetes.

Georgia Bonfield, James Russ-Silsby, Suraj Ramchand

|Apr 16, 2025
Complete Loss of PAX4 causes Transient Neonatal Diabetes in Humans.

James Russ-Silsby, Yunkyeong Lee, Varsha Rajesh

|Apr 14, 2025
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.

Jasmin J Hopkins, Matthew N Wakeling, Matthew B Johnson

|Nov 12, 2024
Type 1 Diabetes Genetic Risk Contributes to Phenotypic Presentation in Monogenic Autoimmune Diabetes.

Amber M Luckett, Gareth Hawkes, Harry D Green

|Apr 18, 2024
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency.

Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila

|Aug 28, 2023
The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus.

James Russ-Silsby, Kashyap A Patel, Thomas W Laver

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Frequent Collaborators

6 joint publications

Elisa De Franco

5 joint publications

Sarah E Flanagan

4 joint publications

Andrew T Hattersley

4 joint publications

Matthew N Wakeling