Matthew N Wakeling
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Explore the profile of Matthew N Wakeling including associated specialties, affiliations and a list of published articles.
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23
Citations
201
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Recent Articles
1.
Flanagan S, Lazaridi I, Mannisto J, Bennett J, Kalyon O, Johnson M, et al.
Front Endocrinol (Lausanne)
. 2025 Mar;
16:1514916.
PMID: 40041288
Introduction: Congenital hyperinsulinism (HI) is characterized by inappropriate insulin secretion from the pancreatic beta-cells which causes severe hypoglycemia. Copy number variants (CNVs) encompassing multiple genes (contiguous gene CNVs) can cause...
2.
Bennett J, Saint-Martin C, Neumann B, Mannisto J, Houghton J, Empting S, et al.
Genome Med
. 2025 Mar;
17(1):17.
PMID: 40033430
Background: We recently reported non-coding variants in a cis-regulatory element of the beta-cell disallowed gene hexokinase 1 (HK1) as a novel cause of congenital hyperinsulinism. These variants lead to a...
3.
Jain V, Radha V, Mohan V, Wakeling M, Bennett J, Flanagan S
Clin Genet
. 2024 Nov;
107(3):364-365.
PMID: 39601258
Loss-of-function ABCC8 variants are the commonest cause of congenital hyperinsulinism. On a systematic search of our databases, the p.(Gly111Arg) ABCC8 variant was identified in 26 individuals, of which 23 were...
4.
Widening the phenotypic spectrum caused by pathogenic variants in individuals with neonatal diabetes
Jeffery N, Al Nimri O, Houghton J, Globa E, Wakeling M, Flanagan S, et al.
BMJ Open Diabetes Res Care
. 2024 Nov;
12(6).
PMID: 39542526
Introduction: Biallelic variants are a rare cause of isolated pancreatic agenesis and neonatal diabetes (NDM) without exocrine pancreatic insufficiency, with 17 cases reported in the literature. Research Design And Methods:...
5.
Donis R, Patel K, Wakeling M, Johnson M, Amoli M, Yildiz M, et al.
Diabet Med
. 2024 Nov;
42(3):e15471.
PMID: 39509107
Aims: Neonatal diabetes is a monogenic condition which can be the presenting feature of complex syndromes. The aim of this study was to identify novel genetic causes of neonatal diabetes...
6.
Mannisto J, Hopkins J, Hewat T, Nasser F, Burrage J, Dastamani A, et al.
J Clin Endocrinol Metab
. 2024 Jul;
PMID: 39078990
Context: Hyperinsulinemic hypoglycemia (HI) can be the presenting feature of Kabuki syndrome (KS), which is caused by loss-of-function variants in KMT2D or KDM6A. As these genes play a critical role...
7.
Johnson M, Ogishi M, Domingo-Vila C, De Franco E, Wakeling M, Imane Z, et al.
J Exp Med
. 2024 Apr;
221(6).
PMID: 38634869
We previously reported two siblings with inherited PD-1 deficiency who died from autoimmune pneumonitis at 3 and 11 years of age after developing other autoimmune manifestations, including type 1 diabetes...
8.
Laver T, Wakeling M, Caswell R, Bunce B, Yau D, Mannisto J, et al.
Eur J Hum Genet
. 2024 Apr;
32(7):813-818.
PMID: 38605124
Persistent congenital hyperinsulinism (HI) is a rare genetically heterogeneous condition characterised by dysregulated insulin secretion leading to life-threatening hypoglycaemia. For up to 50% of affected individuals screening of the known...
9.
De Franco E, Owens N, Montaser H, Wakeling M, Saarimaki-Vire J, Triantou A, et al.
Nat Genet
. 2023 Nov;
55(12):2075-2081.
PMID: 37973953
Identifying genes linked to extreme phenotypes in humans has the potential to highlight biological processes not shared with all other mammals. Here, we report the identification of homozygous loss-of-function variants...
10.
Amaratunga S, Tayeb T, Muhamad Sediq R, Hama Salih F, Dusatkova P, Wakeling M, et al.
Diabetologia
. 2023 Oct;
67(1):113-123.
PMID: 37897565
Aims/hypothesis: Monogenic diabetes is estimated to account for 1-6% of paediatric diabetes cases in primarily non-consanguineous populations, while the incidence and genetic spectrum in consanguineous regions are insufficiently defined. In...