List of works - Matthew B Johnson

35th Annual Meeting of the European Association for the Study of Diabetes

article

35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999

article

A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

scientific article published on 20 March 2017

A comparison of mitochondrial DNA isolation methods in frozen post-mortem human brain tissue--applications for studies of mitochondrial genetics in brain disorders

scientific article

A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes.

scientific article published on 7 February 2018

An exome sequencing strategy to diagnose lethal autosomal recessive disorders

scientific article

Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells

scientific article published on 9 June 2017

Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts

scientific article

Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes

scientific article published on 19 March 2019

Genetic mutations associated with neonatal diabetes mellitus in Omani patients.

scientific article published on 12 January 2018

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

scientific article published on 12 October 2017

Heterozygous RFX6 protein truncating variants cause Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance

Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort

scientific article published on 5 February 2015

Low IgE Is a Useful Tool to Identify STAT3 Gain-of-Function Mutations

scientific article published on 08 September 2016

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus

scientific article published on 16 January 2018

Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes

scientific article published on 28 November 2017

Monogenic autoimmune diseases of the endocrine system

scientific article

Pitfalls of haplotype phasing from amplicon-based long-read sequencing

scientific article

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

scientific article published on 3 April 2017

Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes

scientific article published on 4 May 2017

SavvyCNV: Genome-wide CNV calling from off-target reads

scientific article published on 16 March 2022

Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated

scientific article published on 08 April 2019

Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells

scientific article published on 08 October 2020

List of works by Matthew B Johnson

35th Annual Meeting of the European Association for the Study of Diabetes

35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999

A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

A comparison of mitochondrial DNA isolation methods in frozen post-mortem human brain tissue--applications for studies of mitochondrial genetics in brain disorders

A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes.

An exome sequencing strategy to diagnose lethal autosomal recessive disorders

Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells

Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts

Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes

Genetic mutations associated with neonatal diabetes mellitus in Omani patients.

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

Heterozygous RFX6 protein truncating variants cause Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance

Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort

Low IgE Is a Useful Tool to Identify STAT3 Gain-of-Function Mutations

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus

Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes

Monogenic autoimmune diseases of the endocrine system

Pitfalls of haplotype phasing from amplicon-based long-read sequencing

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes

SavvyCNV: Genome-wide CNV calling from off-target reads

Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated

Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells