Matthew N Wakeling (Matthew Wakeling)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 24

Top Topics

Intellectual Disability

Polycystic Kidney Disease

Top Venues

The Journal of experimental medicine

European journal of human genetics : EJHG

Wellcome open research

Nature genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
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, Melanie Kershaw, Engela M Honey, Nuala Murphy, Dinesh Giri, Stuart Nath, Ana Tangari Saredo, Indraneel Banerjee, Khalid Hussain, Nick D L Owens, Sarah E. Flanagan
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements. European journal of human genetics : EJHG 32 (7) (2024)
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, Melanie Kershaw, Engela M Honey, Nuala Murphy, Dinesh Giri, Stuart Nath, Ana Tangari Saredo, Indraneel Banerjee, Khalid Hussain, Nick D L Owens, Sarah E. Flanagan
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements. European journal of human genetics : EJHG (2024)
Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
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, Melanie Kershaw, Engela M Honey, Nuala Murphy, Dinesh Giri, Stuart Nath, Ana Tangari Saredo, Indraneel Banerjee, Khalid Hussain, Nick D L Owens, Sarah E. Flanagan
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements. European journal of human genetics : EJHG 32 (7) (2024)
Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
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, Melanie Kershaw, Engela M Honey, Nuala Murphy, Dinesh Giri, Stuart Nath, Ana Tangari Saredo, Indraneel Banerjee, Khalid Hussain, Nick D L Owens, Sarah E. Flanagan
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements. European journal of human genetics : EJHG 32 (7) (2024)
Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
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, Melanie Kershaw, Engela M Honey, Nuala Murphy, Dinesh Giri, Stuart Nath, Ana Tangari Saredo, Indraneel Banerjee, Khalid Hussain, Nick D L Owens, Sarah E. Flanagan
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements. European journal of human genetics : EJHG 32 (7) (2024)
Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
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, Jouni A Kvist, Matthew B Johnson, Sachin Muralidharan, Sian Ellard, Caroline Fiona Wright, Sateesh Maddirevula, Fowzan Sami Alkuraya, null null, Neil A Hanley, Sarah E. Flanagan, Timo Otonkoski, Andrew T Hattersley, Michael Imbeault
Primate-specific ZNF808 is essential for pancreatic development in humans. Nature genetics (2023)
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
Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq. Diabetologia (2023)
Thomas W Laver, Elisa De Franco, Matthew B Johnson, Kashyap Amratlal Patel, Sian Ellard, Michael N Weedon, Sarah E. Flanagan, Matthew N Wakeling
SavvyCNV: Genome-wide CNV calling from off-target reads. PLoS computational biology 18 (3) (2022)
Elisa De Franco, Matthew N Wakeling, Russel D Frew, James Russ-Silsby, Catherine Peters, Stephen D Marks, Andrew T Hattersley, Sarah E. Flanagan
A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephaly. Clinical genetics 102 (5) (2022)
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, Thomas W Laver, Rachel van Heugten, Michael N Weedon, Elisa De Franco, Kashyap A Patel, Sian Ellard, Noel G Morgan, Edmund Cheesman, Indraneel Banerjee, Andrew T Hattersley, Mark J Dunne, null null, Sarah J Richardson, Sarah E. Flanagan
Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism. Nature genetics 54 (11) (2022)
Indraneel Banerjee, Senthil Senniappan, Thomas W Laver, Richard C Caswell, Martin Zenker, Klaus Mohnike, Tim Cheetham, Matthew N Wakeling, Dunia Ismail, Belinda Lennerz, Miranda Splitt, Merih Berberoğlu, Susann Empting, Martin Wabitsch, Simone Pötzsch, Prateek Shanmugananda, Zeynep Siklar, Charles F Verge, Michael N Weedon, Sian Ellard, Khalid Hussain, Sarah E. Flanagan
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome. Wellcome open research 4 (2020)
Matthew N Wakeling, Thomas W Laver, Kevin Colclough, Andrew Parish, Sian Ellard, Emma L Baple
Misannotation of multiple-nucleotide variants risks misdiagnosis. Wellcome open research 4 (2019)
Lettie E Rawlins, Hannah Jones, Olivia Wenger, Myat Aye, James Fasham, Gaurav V Harlalka, Barry A Chioza, Alexander Miron, Sian Ellard, Matthew N Wakeling, Andrew H Crosby, Andrew H Crosby
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. European journal of human genetics : EJHG 27 (4) (2019)
Indraneel Banerjee, Senthil Senniappan, Thomas W Laver, Richard C Caswell, Martin Zenker, Klaus Mohnike, Tim Cheetham, Matthew N Wakeling, Dunia Ismail, Belinda Lennerz, Miranda Splitt, Merih Berberoğlu, Susann Empting, Martin Wabitsch, Simone Pötzsch, Prateek Shanmugananda, Zeynep Siklar, Charles F Verge, Michael N Weedon, Sian Ellard, Khalid Hussain, Sarah E. Flanagan
Refinement of the critical genomic region for hypoglycaemia in the Chromosome 9p deletion syndrome. Wellcome open research (2019)
Elise Ruark, Esty Holt, Anthony Renwick, Márton Münz, Matthew N Wakeling, Sian Ellard, Shazia Mahamdallie, Shawn Yost, Nazneen Rahman
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series. Wellcome open research 3 (2018)
Elise Ruark, Esty Holt, Anthony Renwick, Márton Münz, Matthew N Wakeling, Sian Ellard, Shazia Mahamdallie, Shawn Yost, Nazneen Rahman
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series. Wellcome open research (2018)