Publications by authors named "Matthew B Johnson"

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Neonatal diabetes mellitus is a significant feature of COXPD-24 caused by recessive NARS2 variants.
Russell Donis, Matthew N Wakeling, Nicola Jeffery, Molly Govier, Matthew B Johnson

Diabet Med· November 2025

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Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome.
Enrico Virgilio, Sylvia Tielens, Georgia Bonfield, Fang-Shin Nian, Toshiaki Sawatani, Matthew B Johnson

J Clin Invest· November 2025

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Complete loss of PAX4 causes transient neonatal diabetes in humans.
James Russ-Silsby, Yunkyeong Lee, Varsha Rajesh, Mahsa Amoli, Nasser Ali Mirhosseini, Matthew B Johnson

Mol Metab· September 2025

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Blood samples collected under anesthesia can be used as a source of non-diseased controls for immune-based assays.
Clara Domingo-Vila, Evangelia D Williams, Megan E Smithmyer, Basilin Benson, Lauric A Ferrat, Matthew B Johnson

Front Immunol· August 2025

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Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing.
Sarah E Flanagan, Isabella-Anna Lazaridi, Jonna M E Männistö, Jasmin J Bennett, Oguzhan Kalyon, Matthew B Johnson

Front Endocrinol (Lausanne)· May 2025

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REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Jasmin J Hopkins, Matthew N Wakeling, Matthew B Johnson, Sarah E Flanagan, Thomas W Laver

Hum Mutat· April 2025

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Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses.
Jonna M E Männistö, Jasmin J Hopkins, Thomas I Hewat, Fatima Nasser, Joseph Burrage, Matthew B Johnson

J Clin Endocrinol Metab· April 2025

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Optimization of Capillary Vibrating Sharp-Edge Spray Ionization for Native Mass Spectrometry of Triplex DNA.
Sultan Mahmud, Vikum K Dewasurendra, Chandrima Banerjee, Pedram Tavadze, Mst Nigar Sultana, Matthew B Johnson

ACS Omega· April 2025

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Complete Loss of PAX4 causes Transient Neonatal Diabetes in Humans.
James Russ-Silsby, Yunkyeong Lee, Varsha Rajesh, Mahsa Amoli, Nasser Ali Mirhosseini, Matthew B Johnson

medRxiv· April 2025

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A homozygous TARS2 variant is a novel cause of syndromic neonatal diabetes.
Russell Donis, Kashyap A Patel, Matthew N Wakeling, Matthew B Johnson, Masha M Amoli

Diabet Med· March 2025

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Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.
Jasmin J Bennett, Cécile Saint-Martin, Bianca Neumann, Jonna M E Männistö, Jayne A L Houghton, Matthew B Johnson

Genome Med· March 2025

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Type 1 Diabetes Genetic Risk Contributes to Phenotypic Presentation in Monogenic Autoimmune Diabetes.
Amber M Luckett, Gareth Hawkes, Harry D Green, Elisa De Franco, William A Hagopian, Matthew B Johnson

Diabetes· February 2025

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Accessing Different Protein Conformer Ensembles with Tunable Capillary Vibrating Sharp-Edge Spray Ionization.
Daud Sharif, Vikum K Dewasurendra, Mst Nigar Sultana, Sultan Mahmud, Chandrima Banerjee, Matthew B Johnson

J Phys Chem B· February 2025

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Impaired development of memory B cells and antibody responses in humans and mice deficient in PD-1 signaling.
Masato Ogishi, Koji Kitaoka, Kim L Good-Jacobson, Darawan Rinchai, Baihao Zhang, Matthew B Johnson

Immunity· December 2024

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Type 1 diabetes genetic risk score variation across ancestries using whole genome sequencing and array-based approaches.
Ankit M Arni, Diane P Fraser, Seth A Sharp, Richard A Oram, Matthew B Johnson

Sci Rep· December 2024

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CSMD1 regulates brain complement activity and circuit development.
Matthew L Baum, Daniel K Wilton, Rachel G Fox, Alanna Carey, Yu-Han H Hsu, Matthew B Johnson

Brain Behav Immun· July 2024

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Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency.
Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling

J Exp Med· June 2024

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Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
Elizabeth A Werren, Emily R Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava, Matthew B Johnson

Cell Death Dis· May 2024

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Primate-specific ZNF808 is essential for pancreatic development in humans.
Elisa De Franco, Nick D L Owens, Hossam Montaser, Matthew N Wakeling, Jonna Saarimäki-Vire, Matthew B Johnson

Nat Genet· December 2023

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The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus.
James Russ-Silsby, Kashyap A Patel, Thomas W Laver, Gareth Hawkes, Matthew B Johnson

Diabetes· November 2023

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Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality.
Evgenia Globa, Nataliya Zelinska, Matthew B Johnson, Sarah E Flanagan, Elisa De Franco

Diabet Med· May 2023

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FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome.
Rebecca C Wyatt, Sven Olek, Elisa De Franco, Bjoern Samans, Kashyap Patel, Matthew B Johnson

J Clin Immunol· April 2023

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Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic.
Jasmin J Hopkins, Alexandra J Childs, Jayne A L Houghton, Thomas I Hewat, Navoda Atapattu, Matthew B Johnson

J Clin Endocrinol Metab· February 2023

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Capillary Vibrating Sharp-Edge Spray Ionization Augments Field-Free Ionization Techniques to Promote Conformer Preservation in the Gas-Phase for Intractable Biomolecular Ions.
Daud Sharif, Samira Hajian Foroushani, Kushani Attanayake, Vikum K Dewasurendra, Anthony DeBastiani, Matthew B Johnson

J Phys Chem B· November 2022

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Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism.
Matthew N Wakeling, Nick D L Owens, Jessica R Hopkinson, Matthew B Johnson, Jayne A L Houghton

Nat Genet· November 2022

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