M N Wakeling

Affiliations

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.

Publications (14)

Correction: Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Matthew Neil Wakeling , Thomas William Laver , Caroline Fiona Wright , Elisa De Franco , Karen Lucy Stals , Ann-Marie Patch , Andrew Tym Hattersley , Sarah Elizabeth Flanagan , Sian Ellard , Auteur inconnu

YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.

The Journal of clinical investigation

Avec: Elisa De Franco , Maria Lytrivi , Hazem Ibrahim , Hossam Montaser , Matthew N Wakeling , Federica Fantuzzi , Kashyap Patel , Céline Demarez , Ying Cai , Mariana Igoillo-Esteve , Cristina Cosentino , Väinö Lithovius , Helena Vihinen , Eija Jokitalo , Thomas W Laver , Matthew B Johnson , Toshiaki Sawatani , Hadis Shakeri , Nathalie Pachera , Belma Haliloglu , Mehmet Nuri Ozbek , Edip Unal , Ruken Yıldırım , Tushar Godbole , Melek Yildiz , Banu Aydin , Angeline Bilheu , Ikuo Suzuki , Sarah E Flanagan , Pierre Vanderhaeghen , Valérie Senée , Cécile Julier , Piero Marchetti , Decio L Eizirik , Sian Ellard , Jonna Saarimäki-Vire , Timo Otonkoski , Miriam Cnop , Andrew T Hattersley

Biallelic PI4KA variants cause neurological, intestinal and immunological disease.

Brain : a journal of neurology

Avec: Claire G Salter , Yiying Cai , Bernice Lo , Guy Helman , Henry Taylor , Amber McCartney , Joseph S Leslie , Andrea Accogli , Federico Zara , Monica Traverso , James Fasham , Joshua A Lees , Matteo P Ferla , Barry A Chioza , Olivia Wenger , Ethan Scott , Harold E Cross , Joanna Crawford , Ilka Warshawsky , Matthew Keisling , Dimitris Agamanolis , Catherine Ward Melver , Helen Cox , Mamoun Elawad , Tamas Marton , Matthew N Wakeling , Dirk Holzinger , Stephan Tippelt , Martin Munteanu , Deyana Valcheva , Christin Deal , Sara Van Meerbeke , Catherine Walsh Vockley , Manish J Butte , Utkucan Acar , Marjo S van der Knaap , G Christoph Korenke , Urania Kotzaeridou , Tamas Balla , Cas Simons , Holm H Uhlig , Andrew H Crosby , Pietro De Camilli , Nicole I Wolf , Emma L Baple

Infancy-onset diabetes caused by de-regulated AMPylation of the human endoplasmic reticulum chaperone BiP.

EMBO molecular medicine

Avec: Luke A Perera , Andrew T Hattersley , Heather P Harding , Matthew N Wakeling , Sarah E Flanagan , Ibrahim Mohsina , Jamal Raza , Alice Gardham , David Ron , Elisa De Franco

Misannotation of multiple-nucleotide variants risks misdiagnosis.

Wellcome open research

Avec: Matthew N Wakeling , Thomas W Laver , Kevin Colclough , Andrew Parish , Sian Ellard , Emma L Baple

Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.

Genetics in medicine : official journal of the American College of Medical Genetics

The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus.

Diabetes

Avec: James Russ-Silsby , Kashyap A Patel , Thomas W Laver , Gareth Hawkes , Matthew B Johnson , Matthew N Wakeling , Prashant P Patil , Andrew T Hattersley , Sarah E Flanagan , Michael N Weedon , Elisa De Franco

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

The Journal of experimental medicine

Avec: Matthew B Johnson , Masato Ogishi , Clara Domingo-Vila , Elisa De Franco , Matthew N Wakeling , Zineb Imane , Brittany Resnick , Evangelia Williams , Rui Pedro Galão , Richard Caswell , James Russ-Silsby , Yoann Seeleuthner , Darawan Rinchai , Iris Fagniez , Basilin Benson , Matthew J Dufort , Cate Speake , Megan E Smithmyer , Michelle Hudson , Rebecca Dobbs , Auteur inconnu , Zoe Quandt , Andrew T Hattersley , Peng Zhang , Stephanie Boisson-Dupuis , Mark S Anderson , Jean-Laurent Casanova , Timothy I Tree , Richard A Oram

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.

Diabetic medicine : a journal of the British Diabetic Association

Avec: H Yaghootkar , F Abbasi , N Ghaemi , A Rabbani , M N Wakeling , P Eshraghi , S Enayati , S Vakili , S Heidari , K Patel , F Sayarifard , S Borhan-Dayani , T J McDonald , S Ellard , A T Hattersley , M M Amoli , R Vakili , K Colclough

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.

Brain : a journal of neurology

Avec: James Fasham , Antje K Huebner , Lutz Liebmann , Reham Khalaf-Nazzal , Reza Maroofian , Nderim Kryeziu , Saskia B Wortmann , Joseph S Leslie , Nishanka Ubeyratna , Grazia M S Mancini , Marjon van Slegtenhorst , Martina Wilke , Tobias B Haack , Hanan E Shamseldin , Joseph G Gleeson , Mohamed Almuhaizea , Imad Dweikat , Bassam Abu-Libdeh , Muhannad Daana , Maha S Zaki , Matthew N Wakeling , Lucy McGavin , Peter D Turnpenny , Fowzan S Alkuraya , Henry Houlden , Peter Schlattmann , Kai Kaila , Andrew H Crosby , Emma L Baple , Christian A Hübner

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

Diabetologia

Avec: 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

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

PLoS computational biology

Avec: Thomas W Laver , Elisa De Franco , Matthew B Johnson , Kashyap A Patel , Sian Ellard , Michael N Weedon , Sarah E Flanagan , Matthew N Wakeling

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

Clinical genetics

Avec: Elisa De Franco , Matthew N Wakeling , Russel D Frew , James Russ-Silsby , Catherine Peters , Stephen D Marks , Andrew T Hattersley , Sarah E Flanagan

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.

American journal of human genetics

Avec: Reham Khalaf-Nazzal , James Fasham , Katherine A Inskeep , Lauren E Blizzard , Joseph S Leslie , Matthew N Wakeling , Nishanka Ubeyratna , Tadahiro Mitani , Jennifer L Griffith , Wisam Baker , Fida' Al-Hijawi , Karen C Keough , Alper Gezdirici , Loren Pena , Christine G Spaeth , Peter D Turnpenny , Joseph R Walsh , Randall Ray , Amber Neilson , Evguenia Kouranova , Xiaoxia Cui , David T Curiel , Davut Pehlivan , Zeynep Coban Akdemir , Jennifer E Posey , James R Lupski , William B Dobyns , Rolf W Stottmann , Andrew H Crosby , Emma L Baple

Réseau de co-auteurs

Matthew N Wakeling 11 collaborations

Elisa De Franco 9 collaborations

Sian Ellard 5 collaborations

Sarah E Flanagan 5 collaborations

Andrew T Hattersley 5 collaborations

Thomas W Laver 4 collaborations

Matthew B Johnson 4 collaborations

Emma L Baple 4 collaborations

None None 3 collaborations

Joseph S Leslie 3 collaborations

James Fasham 3 collaborations

Andrew H Crosby 3 collaborations

James Russ-Silsby 3 collaborations

Matthew Neil Wakeling 2 collaborations

Thomas William Laver 2 collaborations

Caroline Fiona Wright 2 collaborations

Karen Lucy Stals 2 collaborations

Ann-Marie Patch 2 collaborations

Andrew Tym Hattersley 2 collaborations

Sarah Elizabeth Flanagan 2 collaborations

Kashyap A Patel 2 collaborations

Michael N Weedon 2 collaborations

Reham Khalaf-Nazzal 2 collaborations

Nishanka Ubeyratna 2 collaborations

Peter D Turnpenny 2 collaborations

Maria Lytrivi 1 collaboration

Hazem Ibrahim 1 collaboration

Hossam Montaser 1 collaboration

Federica Fantuzzi 1 collaboration

Kashyap Patel 1 collaboration

Céline Demarez 1 collaboration

Ying Cai 1 collaboration

Mariana Igoillo-Esteve 1 collaboration

Cristina Cosentino 1 collaboration

Väinö Lithovius 1 collaboration

Helena Vihinen 1 collaboration

Eija Jokitalo 1 collaboration

Toshiaki Sawatani 1 collaboration

Hadis Shakeri 1 collaboration

Nathalie Pachera 1 collaboration

Belma Haliloglu 1 collaboration

Mehmet Nuri Ozbek 1 collaboration

Edip Unal 1 collaboration

Ruken Yıldırım 1 collaboration

Tushar Godbole 1 collaboration

Melek Yildiz 1 collaboration

Banu Aydin 1 collaboration

Angeline Bilheu 1 collaboration

Ikuo Suzuki 1 collaboration

Pierre Vanderhaeghen 1 collaboration

Valérie Senée 1 collaboration

Cécile Julier 1 collaboration

Piero Marchetti 1 collaboration

Decio L Eizirik 1 collaboration

Jonna Saarimäki-Vire 1 collaboration

Timo Otonkoski 1 collaboration

Miriam Cnop 1 collaboration

Claire G Salter 1 collaboration

Yiying Cai 1 collaboration

Bernice Lo 1 collaboration

Guy Helman 1 collaboration

Henry Taylor 1 collaboration

Amber McCartney 1 collaboration

Andrea Accogli 1 collaboration

Federico Zara 1 collaboration

Monica Traverso 1 collaboration

Joshua A Lees 1 collaboration

Matteo P Ferla 1 collaboration

Barry A Chioza 1 collaboration

Olivia Wenger 1 collaboration

Ethan Scott 1 collaboration

Harold E Cross 1 collaboration

Joanna Crawford 1 collaboration

Ilka Warshawsky 1 collaboration

Matthew Keisling 1 collaboration

Dimitris Agamanolis 1 collaboration

Catherine Ward Melver 1 collaboration

Helen Cox 1 collaboration

Mamoun Elawad 1 collaboration

Tamas Marton 1 collaboration

Dirk Holzinger 1 collaboration

Stephan Tippelt 1 collaboration

Martin Munteanu 1 collaboration

Deyana Valcheva 1 collaboration

Christin Deal 1 collaboration

Sara Van Meerbeke 1 collaboration

Catherine Walsh Vockley 1 collaboration

Manish J Butte 1 collaboration

Utkucan Acar 1 collaboration

Marjo S van der Knaap 1 collaboration

G Christoph Korenke 1 collaboration

Urania Kotzaeridou 1 collaboration

Tamas Balla 1 collaboration

Cas Simons 1 collaboration

Holm H Uhlig 1 collaboration

Pietro De Camilli 1 collaboration

Nicole I Wolf 1 collaboration

Luke A Perera 1 collaboration

Heather P Harding 1 collaboration

Ibrahim Mohsina 1 collaboration

Jamal Raza 1 collaboration

Alice Gardham 1 collaboration

David Ron 1 collaboration

Kevin Colclough 1 collaboration

Andrew Parish 1 collaboration

Gareth Hawkes 1 collaboration

Prashant P Patil 1 collaboration

Masato Ogishi 1 collaboration

Clara Domingo-Vila 1 collaboration

Zineb Imane 1 collaboration

Brittany Resnick 1 collaboration

Evangelia Williams 1 collaboration

Rui Pedro Galão 1 collaboration

Richard Caswell 1 collaboration

Yoann Seeleuthner 1 collaboration

Darawan Rinchai 1 collaboration

Iris Fagniez 1 collaboration

Basilin Benson 1 collaboration

Matthew J Dufort 1 collaboration

Cate Speake 1 collaboration

Megan E Smithmyer 1 collaboration

Michelle Hudson 1 collaboration

Rebecca Dobbs 1 collaboration

Zoe Quandt 1 collaboration

Peng Zhang 1 collaboration

Stephanie Boisson-Dupuis 1 collaboration

Mark S Anderson 1 collaboration

Jean-Laurent Casanova 1 collaboration

Timothy I Tree 1 collaboration

Richard A Oram 1 collaboration

H Yaghootkar 1 collaboration

F Abbasi 1 collaboration

N Ghaemi 1 collaboration

A Rabbani 1 collaboration

P Eshraghi 1 collaboration

S Enayati 1 collaboration

S Vakili 1 collaboration

S Heidari 1 collaboration

K Patel 1 collaboration

F Sayarifard 1 collaboration

S Borhan-Dayani 1 collaboration

T J McDonald 1 collaboration

S Ellard 1 collaboration

A T Hattersley 1 collaboration

M M Amoli 1 collaboration

R Vakili 1 collaboration

K Colclough 1 collaboration

Antje K Huebner 1 collaboration

Lutz Liebmann 1 collaboration

Reza Maroofian 1 collaboration

Nderim Kryeziu 1 collaboration

Saskia B Wortmann 1 collaboration

Grazia M S Mancini 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Martina Wilke 1 collaboration

Tobias B Haack 1 collaboration

Hanan E Shamseldin 1 collaboration

Joseph G Gleeson 1 collaboration

Mohamed Almuhaizea 1 collaboration

Imad Dweikat 1 collaboration

Bassam Abu-Libdeh 1 collaboration

Muhannad Daana 1 collaboration

Maha S Zaki 1 collaboration

Lucy McGavin 1 collaboration

Fowzan S Alkuraya 1 collaboration

Henry Houlden 1 collaboration

Peter Schlattmann 1 collaboration

Kai Kaila 1 collaboration

Christian A Hübner 1 collaboration

Shenali A Amaratunga 1 collaboration

Tara Hussein Tayeb 1 collaboration

Rozhan N Muhamad Sediq 1 collaboration

Fareda K Hama Salih 1 collaboration

Petra Dusatkova 1 collaboration

Stepanka Pruhova 1 collaboration

Jan Lebl 1 collaboration

Russel D Frew 1 collaboration

Catherine Peters 1 collaboration

Stephen D Marks 1 collaboration

Katherine A Inskeep 1 collaboration

Lauren E Blizzard 1 collaboration

Tadahiro Mitani 1 collaboration

Jennifer L Griffith 1 collaboration

Wisam Baker 1 collaboration

Fida' Al-Hijawi 1 collaboration

Karen C Keough 1 collaboration

Alper Gezdirici 1 collaboration

Loren Pena 1 collaboration

Christine G Spaeth 1 collaboration

Joseph R Walsh 1 collaboration

Randall Ray 1 collaboration

Amber Neilson 1 collaboration

Evguenia Kouranova 1 collaboration

Xiaoxia Cui 1 collaboration

David T Curiel 1 collaboration

Davut Pehlivan 1 collaboration

Zeynep Coban Akdemir 1 collaboration

Jennifer E Posey 1 collaboration

James R Lupski 1 collaboration

William B Dobyns 1 collaboration

Rolf W Stottmann 1 collaboration