Publications by authors named "Matthew Wakeling"

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Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.
James Fasham, Julia Rankin, Rachel Schot, Susan M White, Katrina M Bell, Matthew N Wakeling

Am J Hum Genet· December 2025

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Rare Variants in NEUROD1 and PDX1 Are Low-Penetrance Causes of MODY, Whereas Those in APPL1 and WFS1 Are Not Associated With MODY.
Aparajita Sriram, Matthew N Wakeling, Andrew T Hattersley, Michael N Weedon, Kevin Colclough

Diabetes· November 2025

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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 N Wakeling

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 N Wakeling

Mol Metab· September 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 N Wakeling

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 N Wakeling

J Clin Endocrinol Metab· 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 N Wakeling

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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The p.(Gly111Arg) ABCC8 Variant: A Founder Mutation Causing Congenital Hyperinsulinism in the Indian Agarwal Community.
Vandana Jain, Venkatesan Radha, Viswanathan Mohan, Matthew N Wakeling, Jasmin J Bennett

Clin Genet· 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 N Wakeling

Genome Med· March 2025

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CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.
Emmanuelle Szenker-Ravi, Tim Ott, Amirah Yusof, Maya Chopra, Muznah Khatoo, Matthew Wakeling

Am J Hum Genet· February 2025

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Widening the phenotypic spectrum caused by pathogenic variants in individuals with neonatal diabetes.
Nicola Jeffery, Omar Al Nimri, Jayne A L Houghton, Evgenia Globa, Matthew N Wakeling

BMJ Open Diabetes Res Care· November 2024

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Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements.
Thomas W Laver, Matthew N Wakeling, Richard C Caswell, Benjamin Bunce, Daphne Yau

Eur J Hum Genet· 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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A laterally-fused N-heterocyclic carbene framework from polysubstituted aminoimidazo[5,1-]oxazol-6-ium salts.
Andrew D Gillie, Matthew G Wakeling, Bethan L Greene, Louise Male, Paul W Davies

Beilstein J Org Chem· March 2024

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Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq.
Shenali A Amaratunga, Tara Hussein Tayeb, Rozhan N Muhamad Sediq, Fareda K Hama Salih, Petra Dusatkova, Matthew N Wakeling

Diabetologia· January 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

Nat Genet· December 2023

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SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
James Fasham, Antje K Huebner, Lutz Liebmann, Reham Khalaf-Nazzal, Reza Maroofian, Matthew N Wakeling

Brain· November 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, Matthew N Wakeling

Diabetes· November 2023

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Nickel-Catalyzed 1,1-Aminoborylation of Unactivated Terminal Alkenes.
Laura Talavera, Robert R A Freund, Huihui Zhang, Matthew Wakeling, Mara Jensen

ACS Catal· April 2023

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Infancy-onset diabetes caused by de-regulated AMPylation of the human endoplasmic reticulum chaperone BiP.
Luke A Perera, Andrew T Hattersley, Heather P Harding, Matthew N Wakeling, Sarah E Flanagan

EMBO Mol Med· March 2023

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Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Reham Khalaf-Nazzal, James Fasham, Katherine A Inskeep, Lauren E Blizzard, Joseph S Leslie, Matthew N Wakeling

Am J Hum Genet· 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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