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Matthew Wakeling
Matthew Wakeling
Research Fellow, University of Exeter
Verified email at wakeling.homeip.net
Title
Cited by
Cited by
Year
FlyMine: an integrated database for Drosophila and Anopheles genomics
R Lyne, R Smith, K Rutherford, M Wakeling, A Varley, F Guillier, ...
Genome biology 8, 1-16, 2007
4052007
InterMine: a flexible data warehouse system for the integration and analysis of heterogeneous biological data
RN Smith, J Aleksic, D Butano, A Carr, S Contrino, F Hu, M Lyne, R Lyne, ...
Bioinformatics 28 (23), 3163-3165, 2012
2852012
MAFA missense mutation causes familial insulinomatosis and diabetes mellitus
D Iacovazzo, SE Flanagan, E Walker, R Quezado, FA de Sousa Barros, ...
Proceedings of the National Academy of Sciences 115 (5), 1027-1032, 2018
1002018
Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing
KL Stals, M Wakeling, J Baptista, R Caswell, A Parrish, J Rankin, C Tysoe, ...
Prenatal diagnosis 38 (1), 33-43, 2018
842018
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress
E De Franco, M Lytrivi, H Ibrahim, H Montaser, MN Wakeling, F Fantuzzi, ...
The Journal of clinical investigation 130 (12), 6338-6353, 2020
692020
NAD (P) HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses
NJ Van Bergen, Y Guo, J Rankin, N Paczia, J Becker-Kettern, LS Kremer, ...
Brain 142 (1), 50-58, 2019
552019
Loss of MANF causes childhood-onset syndromic diabetes due to increased endoplasmic reticulum stress
H Montaser, KA Patel, D Balboa, H Ibrahim, V Lithovius, A Näätänen, ...
Diabetes 70 (4), 1006-1018, 2021
392021
De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction
E De Franco, R Caswell, MB Johnson, MN Wakeling, A Zung, VC Dũng, ...
Diabetes 69 (3), 477-483, 2020
372020
SavvyCNV: Genome-wide CNV calling from off-target reads
TW Laver, E De Franco, MB Johnson, KA Patel, S Ellard, MN Weedon, ...
PLOS Computational Biology 18 (3), e1009940, 2022
342022
Annotating high-impact 5′ untranslated region variants with the UTRannotator
X Zhang, M Wakeling, J Ware, N Whiffin
Bioinformatics 37 (8), 1171-1173, 2021
342021
Trisomy 21 is a cause of permanent neonatal diabetes that is autoimmune but not HLA associated
MB Johnson, E De Franco, SAW Greeley, LR Letourneau, KM Gillespie, ...
Diabetes 68 (7), 1528-1535, 2019
342019
Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY
TW Laver, MN Wakeling, O Knox, K Colclough, CF Wright, S Ellard, ...
Diabetes 71 (5), 1128-1136, 2022
332022
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia
LE Rawlins, H Jones, O Wenger, M Aye, J Fasham, GV Harlalka, ...
European Journal of Human Genetics 27 (4), 657-662, 2019
302019
Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease
MN Wakeling, TW Laver, CF Wright, E De Franco, KL Stals, AM Patch, ...
Genetics in Medicine 21 (4), 982-986, 2019
302019
Biallelic PI4KA variants cause neurological, intestinal and immunological disease
CG Salter, Y Cai, B Lo, G Helman, H Taylor, A McCartney, JS Leslie, ...
Brain 144 (12), 3597-3610, 2021
242021
Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism
MN Wakeling, NDL Owens, JR Hopkinson, MB Johnson, JAL Houghton, ...
Nature genetics 54 (11), 1615-1620, 2022
172022
Type 1 diabetes genetic risk score discriminates between monogenic and Type 1 diabetes in children diagnosed at the age of< 5 years in the Iranian population
H Yaghootkar, F Abbasi, N Ghaemi, A Rabbani, MN Wakeling, P Eshraghi, ...
Diabetic Medicine 36 (12), 1694-1702, 2019
152019
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy
KJ Low, K Stals, R Caswell, M Wakeling, J Clayton-Smith, A Donaldson, ...
European Journal of Human Genetics 26 (6), 796-807, 2018
152018
Primate-specific ZNF808 is essential for pancreatic development in humans
E De Franco, NDL Owens, H Montaser, MN Wakeling, J Saarimäki-Vire, ...
Nature Genetics 55 (12), 2075-2081, 2023
102023
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome
E Wakeling, M McEntagart, M Bruccoleri, C Shaw-Smith, KL Stals, ...
Human Genetics and Genomics Advances 2 (1), 2021
92021
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