Matthew N. Wakeling
Exeter, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 53 publications
Long-read sequencing enables trio-assisted phasing of de novo variants in the imprinted gene MAGEL2.
Long-read sequencing enables trio-assisted phasing of de novo variants in the imprinted gene MAGEL2.
Journal: Journal of medical genetics
Published: October 07, 2025
Biallelic Pathogenic Variants in IL2RA Cause Neonatal-Onset Monogenic Autoimmune Diabetes.
Journal: Diabetes
Published: October 06, 2025
Systematic analysis of loss-of-function variants across MODY genes demonstrates gene-specific effects and expands the spectrum of INS variants causing MODY.
Journal: Diabetologia
Published: August 27, 2025
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.
Journal: American journal of human genetics
Published: July 28, 2025
A new form of diabetes caused by INS mutations defined by zygosity, stem cell and population data.
Journal: EMBO molecular medicine
Published: July 11, 2025
Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome.
Journal: The Journal of clinical investigation
Published: May 21, 2025
Rare Variants in NEUROD1 and PDX1 Are Low-Penetrance Causes of MODY, Whereas Those in APPL1 and WFS1 Are Not Associated With MODY.
Journal: Diabetes
Published: May 06, 2025
Complete Loss of PAX4 causes Transient Neonatal Diabetes in Humans.
Journal: medRxiv : the preprint server for health sciences
Published: April 16, 2025
Complete loss of PAX4 causes transient neonatal diabetes in humans.
Journal: Molecular metabolism
Published: March 28, 2025
Neonatal diabetes mellitus is a significant feature of COXPD-24 caused by recessive NARS2 variants.
Journal: Diabetic medicine : a journal of the British Diabetic Association
Published: February 18, 2025
Last Updated: 09/26/2026