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Works (27)

Population labels can be generated directly from targeted next-generation sequencing data

2024-10-25 | Preprint
DOI: 10.21203/rs.3.rs-5282595/v1
Contributors: Elisa De Franco; James Russ-Silsby; Malintha Hewa Batage; Laver Thomas; Matthew Wakeling; Matthew Johnson; Andrew Hattersley; Sarah Flanagan
Source: check_circle
Crossref

Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements

European Journal of Human Genetics
2024-07 | Journal article
DOI: 10.1038/s41431-024-01593-z
Contributors: Thomas W. Laver; Matthew N. Wakeling; Richard C. Caswell; Benjamin Bunce; Daphne Yau; Jonna M. E. Männistö; Jayne A. L. Houghton; Jasmin J. Hopkins; Michael N. Weedon; Vrinda Saraff et al.
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Crossref

Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency

2024-03-13 | Other
DOI: 10.1084/jem.20231704
Contributors: Matthew Johnson; Masato Ogishi; Clara Domingo-Vila; Elisa De Franco; Matthew Wakeling; Zineb Imane; Brittany Resnick; Evangelia Williams; Rui Galão; Richard Caswell et al.
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Crossref

Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq

Diabetologia
2024-01 | Journal article
DOI: 10.1007/s00125-023-06030-2
Contributors: Shenali A. Amaratunga; Tara Hussein Tayeb; Rozhan N. Muhamad Sediq; Fareda K. Hama Salih; Petra Dusatkova; Matthew N. Wakeling; Elisa De Franco; Stepanka Pruhova; Jan Lebl
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Crossref

Primate-specific ZNF808 is essential for pancreatic development in humans

Nature Genetics
2023-12 | Journal article
DOI: 10.1038/s41588-023-01565-x
Contributors: Elisa De Franco; Nick D. L. Owens; Hossam Montaser; Matthew N. Wakeling; Jonna Saarimäki-Vire; Athina Triantou; Hazem Ibrahim; Diego Balboa; Richard C. Caswell; Rachel E. Jennings et al.
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Crossref

REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants

Human Mutation
2023-12-04 | Journal article
DOI: 10.1155/2023/8857940
Contributors: Jasmin J. Hopkins; Matthew N. Wakeling; Matthew B. Johnson; Sarah E. Flanagan; Thomas W. Laver; Jian-Min Chen
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Crossref

Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the likely disruption ofFOXA2

2023-08-21 | Preprint
DOI: 10.1101/2023.08.16.23294161
Contributors: Thomas W Laver; Matthew N Wakeling; Richard C Caswell; Benjamin Bunce; Daphne Yau; Jayne AL Houghton; Jasmin J. Hopkins; Michael N Weedon; Vrinda Saraff; Melanie Kershaw et al.
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Crossref

REVEL is better at predicting pathogenicity of loss-of-function than gain-of-function variants

2023-06-07 | Preprint
DOI: 10.1101/2023.06.06.23290963
Contributors: Jasmin J Hopkins; Matthew N Wakeling; Matthew B Johnson; Sarah E Flanagan; Thomas W Laver
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Crossref

A biallelic loss‐of‐function PDIA6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly

Clinical Genetics
2022-11 | Journal article
DOI: 10.1111/cge.14187
Contributors: Elisa De Franco; Matthew N. Wakeling; Russel D. Frew; James Russ‐Silsby; Catherine Peters; Stephen D. Marks; Andrew T. Hattersley; Sarah E. Flanagan
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Crossref

Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

Nature Genetics
2022-11 | Journal article
DOI: 10.1038/s41588-022-01204-x
Contributors: Matthew N. Wakeling; Nick D. L. Owens; Jessica R. Hopkinson; Matthew B. Johnson; Jayne A. L. Houghton; Antonia Dastamani; Christine S. Flaxman; Rebecca C. Wyatt; Thomas I. Hewat; Jasmin J. Hopkins et al.
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Crossref

A homozygous p.(Arg371Ser) mutation in FICD de-regulates AMPylation of the human endoplasmic reticulum chaperone BiP causing infancy-onset diabetes and severe neurodevelopmental delay

2022-05-19 | Preprint
DOI: 10.1101/2022.05.14.22275020
Contributors: Luke A. Perera; Andrew T. Hattersley; Heather P. Harding; Matthew N. Wakeling; Sarah E. Flanagan; Ibrahim Moshina; Jamal Raza; Alice Gardham; David Ron; Elisa De Franco
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Crossref

SavvyCNV: Genome-wide CNV calling from off-target reads

PLOS Computational Biology
2022-03-16 | Journal article
DOI: 10.1371/journal.pcbi.1009940
Contributors: Thomas W. Laver; Mihaela Pertea; Elisa De Franco; Matthew B. Johnson; Kashyap A. Patel; Sian Ellard; Michael N. Weedon; Sarah E. Flanagan; Matthew N. Wakeling
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Crossref

A novel disease mechanism leading to the expression of a disallowed gene in the pancreatic beta-cell identified by non-coding, regulatory mutations controlling HK1

2021-12-05 | Other
DOI: 10.1101/2021.12.03.21267240
Contributors: Matthew N. Wakeling; Nick D. L. Owens; Jessica R. Hopkinson; Matthew B. Johnson; Jayne A.L. Houghton; Antonia Dastamani; Christine S. Flaxman; Rebecca C. Wyatt; Thomas I. Hewat; Jasmin J. Hopkins et al.
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Crossref

Evaluation of evidence for pathogenicity demonstrates that BLK, KLF11 and PAX4 should not be included in diagnostic testing for MODY

2021-09-22 | Other
DOI: 10.1101/2021.09.17.21263728
Contributors: Thomas W Laver; Matthew N Wakeling; Olivia Knox; Kevin Colclough; Caroline F Wright; Sian Ellard; Andrew T Hattersley; Michael N Weedon; Kashyap A Patel
Source: check_circle
Crossref

Primate-specific ZNF808 is essential for pancreatic development in humans

2021-08-23 | Other
DOI: 10.1101/2021.08.23.21262262
Contributors: Elisa De Franco; Nick D L Owens; Hossam Montaser; Matthew N Wakeling; Jonna Saarimäki-Vire; Hazem Ibrahim; Athina Triantou; Diego Balboa; Richard C Caswell; Matthew B Johnson et al.
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Crossref

Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome [version 2; peer review: 3 approved]

2020-08-04 | Journal article
DOI: 10.12688/wellcomeopenres.15465.2
Part of ISSN: 2398-502X
Contributors: Indraneel Banerjee; Senthil Senniappan; Thomas W. Laver; Richard Caswell; Martin Zenker; Klaus Mohnike; Tim Cheetham; Matthew N. Wakeling; Dunia Ismail; Belinda Lennerz et al.
Source: check_circle
Wellcome Open Research
grade
Preferred source (of 2)‎

Annotating high-impact 5’untranslated region variants with the UTRannotator

2020-06-04 | Preprint
DOI: 10.1101/2020.06.03.132266
Contributors: Xiaolei Zhang; Matthew Wakeling; James Ware; Nicola Whiffin
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Crossref

Misannotation of multiple-nucleotide variants risks misdiagnosis [version 2; peer review: 2 approved]

2020-01-09 | Journal article
DOI: 10.12688/wellcomeopenres.15420.2
Part of ISSN: 2398-502X
Contributors: Matthew N. Wakeling; Thomas W. Laver; Kevin Colclough; Andrew Parish; Sian Ellard; Emma L. Baple
Source: check_circle
Wellcome Open Research
grade
Preferred source (of 2)‎

Refinement of the critical genomic region for hypoglycaemia in the Chromosome 9p deletion syndrome

Wellcome Open Research
2019-10-08 | Journal article
DOI: 10.12688/wellcomeopenres.15465.1
Contributors: Indraneel Banerjee; Senthil Senniappan; Thomas W. Laver; Richard Caswell; Martin Zenker; Klaus Mohnike; Tim Cheetham; Matthew N. Wakeling; Dunia Ismail; Belinda Lennerz et al.
Source: check_circle
Crossref

Misannotation of multiple-nucleotide variants risks misdiagnosis

Wellcome Open Research
2019-10-01 | Journal article
DOI: 10.12688/wellcomeopenres.15420.1
Contributors: Matthew N. Wakeling; Thomas W. Laver; Kevin Colclough; Andrew Parish; Sian Ellard; Emma L. Baple
Source: check_circle
Crossref

SavvyCNV: genome-wide CNV calling from off-target reads

2019-05-03 | Other
DOI: 10.1101/617605
Contributors: Thomas W Laver; Elisa De Franco; Matthew B Johnson; Kashyap Patel; Sian Ellard; Michael N Weedon; Sarah E Flanagan; Matthew N Wakeling
Source: check_circle
Crossref

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia

European Journal of Human Genetics
2019-04 | Journal article
DOI: 10.1038/s41431-018-0306-0
Contributors: Lettie E. Rawlins; Hannah Jones; Olivia Wenger; Myat Aye; James Fasham; Gaurav V. Harlalka; Barry A. Chioza; Alexander Miron; Sian Ellard; Matthew Wakeling et al.
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Crossref

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series [version 2; referees: 2 approved]

2018-10-31 | Journal article
DOI: 10.12688/wellcomeopenres.14754.2
Part of ISSN: 2398-502X
Contributors: Elise Ruark; Esty Holt; Anthony Renwick; Márton Münz; Matthew Wakeling; Sian Ellard; Shazia Mahamdallie; Shawn Yost; Nazneen Rahman
Source: check_circle
Wellcome Open Research
grade
Preferred source (of 2)‎

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series [version 1; referees: awaiting peer review]

2018-08-31 | Journal article
DOI: 10.12688/wellcomeopenres.14754.1
Part of ISSN: 2398-502X
Contributors: Elise Ruark; Esty Holt; Anthony Renwick; Márton Münz; Matthew Wakeling; Sian Ellard; Shazia Mahamdallie; Shawn Yost; Nazneen Rahman
Source: check_circle
Wellcome Open Research
grade
Preferred source (of 2)‎

Assimilation of vertical motion from simulated cloudy satellite imagery in an idealized single column model

Q.J.R. Meteorol. Soc.
2014-09-02 | Journal article
DOI: 10.1002/qj.2427
Contributors: Matthew Wakeling; John Eyre; Sue Hughes; Ian Roulstone
Source: Self-asserted source
Matthew Wakeling via Crossref Metadata Search

InterMine: a flexible data warehouse system for the integration and analysis of heterogeneous biological data.

2012-12 | Journal article
PMID: 23023984
PMC: PMC3516146
Contributors: Smith RN; Aleksic J; Butano D; Carr A; Contrino S; Hu F; Lyne M; Lyne R; Kalderimis A; Rutherford K et al.
Source: Self-asserted source
Matthew Wakeling via Europe PubMed Central

FlyMine: an integrated database for Drosophila and Anopheles genomics.

2007 | Journal article
PMID: 17615057
PMC: PMC2323218
Contributors: Lyne R; Smith R; Rutherford K; Wakeling M; Varley A; Guillier F; Janssens H; Ji W; Mclaren P; North P et al.
Source: Self-asserted source
Matthew Wakeling via Europe PubMed Central

Peer review (1 review for 1 publication/grant)

Review activity for Laboratory investigation. (1)
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