Matthew Mort

Affiliations

Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.

Publications (19)

The Human Gene Mutation Database (HGMD

Human genetics

Avec: Peter D Stenson , Edward V Ball , Molly Chapman , Katy Evans , Luisa Azevedo , Matthew Hayden , Sally Heywood , David S Millar , Andrew D Phillips , David N Cooper

PIGA mutations and glycosylphosphatidylinositol anchor dysregulation in polyposis-associated duodenal tumorigenesis.

Molecular cancer research : MCR

Avec: Elena Meuser , Kyle Chang , Angharad Walters , Joanna J Hurley , Hannah D West , Iain Perry , Laura Reyes-Uribe , Rebekah Truscott , Nicholas Jones , Rachel Lawrence , Gareth Jenkins , Peter Giles , Sunil Dolwani , Bilal Al-Sarireh , Neil Hawkes , Emma Short , Geraint T Williams , Melissa W Taggart , Kim Luetchford , Patrick M Lynch , Diantha Terlouw , Maartje Nielsen , Sarah-Jane Walton , Andrew Latchford , Susan K Clark , Julian R Sampson , Eduardo Vilar , Laura E Thomas

Critical assessment of missense variant effect predictors on disease-relevant variant data.

bioRxiv : the preprint server for biology

Avec: Ruchir Rastogi , Ryan Chung , Sindy Li , Chang Li , Kyoungyeul Lee , Junwoo Woo , Dong-Wook Kim , Changwon Keum , Giulia Babbi , Pier Luigi Martelli , Castrense Savojardo , Rita Casadio , Kirsley Chennen , Thomas Weber , Olivier Poch , François Ancien , Gabriel Cia , Fabrizio Pucci , Daniele Raimondi , Wim Vranken , Marianne Rooman , Céline Marquet , Tobias Olenyi , Burkhard Rost , Gaia Andreoletti , Akash Kamandula , Yisu Peng , Constantina Bakolitsa , David N Cooper , Timothy Bergquist , Vikas Pejaver , Xiaoming Liu , Predrag Radivojac , Steven E Brenner , Nilah M Ioannidis

Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority score.

Nature communications

Avec: Robert Chen , Áine Duffy , Ben O Petrazzini , Ha My Vy , David Stein , Joshua K Park , Avner Schlessinger , Yuval Itan , David N Cooper , Daniel M Jordan , Ghislain Rocheleau , Ron Do

Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.

PLoS computational biology

Avec: Kymberleigh A Pagel , Danny Antaki , AoJie Lian , David N Cooper , Jonathan Sebat , Lilia M Iakoucheva , Sean D Mooney , Predrag Radivojac

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature communications

Avec: Robert Fragoza , Jishnu Das , Shayne D Wierbowski , Jin Liang , Tina N Tran , Siqi Liang , Juan F Beltran , Christen A Rivera-Erick , Kaixiong Ye , Ting-Yi Wang , Li Yao , Peter D Stenson , David N Cooper , Xiaomu Wei , Alon Keinan , John C Schimenti , Andrew G Clark , Haiyuan Yu

RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants.

Genome biology

Avec: Hai Lin , Katherine A Hargreaves , Rudong Li , Jill L Reiter , Yue Wang , David N Cooper , Yaoqi Zhou , Chi Zhang , Michael T Eadon , M Eileen Dolan , Joseph Ipe , Todd C Skaar , Yunlong Liu

Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes.

Clinical and translational gastroenterology

Avec: James J Ashton , Enrico Mossotto , Imogen S Stafford , Rachel Haggarty , Tracy A F Coelho , Akshay Batra , Nadeem A Afzal , David Bunyan , Robert Mark Beattie , Sarah Ennis

Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian framework.

EBioMedicine

Avec: Dan He , Ling Li , Huasong Zhang , Feiyi Liu , Shaoying Li , Xuehao Xiu , Cong Fan , Mengling Qi , Meng Meng , Junping Ye , Peter D Stenson , David N Cooper , Huiying Zhao

Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications.

Nature genetics

Avec: Áine Duffy , Ben Omega Petrazzini , David Stein , Joshua K Park , Iain S Forrest , Kyle Gibson , Ha My Vy , Robert Chen , Carla Márquez-Luna , Marie Verbanck , Avner Schlessinger , Yuval Itan , David N Cooper , Ghislain Rocheleau , Daniel M Jordan , Ron Do

APC transcription studies and molecular diagnosis of familial adenomatous polyposis.

European journal of human genetics : EJHG

Avec: Emma Short , Laura E Thomas , Alice Davies , Alice Bolton , Julie Maynard , Peter Giles , Claudia Consoli , Iris Egner , Hala Jundi , Julian R Sampson

First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts.

Human mutation

Avec: Jin-Huan Lin , Xin-Ying Tang , Arnaud Boulling , Wen-Bin Zou , Emmanuelle Masson , Yann Fichou , Loann Raud , Marlène Le Tertre , Shun-Jiang Deng , Isabelle Berlivet , Chandran Ka , Matthew Hayden , Raphaël Leman , Claude Houdayer , Gerald Le Gac , David N Cooper , Zhao-Shen Li , Claude Férec , Zhuan Liao , Jian-Min Chen

Developmental Gene Expression Differences between Humans and Mammalian Models.

Cell reports

Avec: Margarida Cardoso-Moreira , Ioannis Sarropoulos , Britta Velten , David N Cooper , Wolfgang Huber , Henrik Kaessmann

Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.

Human genomics

Avec: Mónica Lopes-Marques , João Carneiro , António Azevedo , Andreia P Amaro , David N Cooper , Luísa Azevedo

Inferring the molecular and phenotypic impact of amino acid variants with MutPred2.

Nature communications

Avec: Vikas Pejaver , Jorge Urresti , Jose Lugo-Martinez , Kymberleigh A Pagel , Guan Ning Lin , Hyun-Jun Nam , David N Cooper , Jonathan Sebat , Lilia M Iakoucheva , Sean D Mooney , Predrag Radivojac

A platform for curated products from novel open reading frames prompts reinterpretation of disease variants.

Genome research

Avec: Matthew D C Neville , Robin Kohze , Chaitanya Erady , Narendra Meena , Matthew Hayden , David N Cooper , Sudhakaran Prabakaran

Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections.

Human genetics

Avec: Cong Fan , Ken Chen , Yukai Wang , Edward V Ball , Peter D Stenson , Albino Bacolla , Hildegard Kehrer-Sawatzki , John A Tainer , David N Cooper , Huiying Zhao

Gene expression across mammalian organ development.

Nature

Avec: Margarida Cardoso-Moreira , Jean Halbert , Delphine Valloton , Britta Velten , Chunyan Chen , Yi Shao , Angélica Liechti , Kelly Ascenção , Coralie Rummel , Svetlana Ovchinnikova , Pavel V Mazin , Ioannis Xenarios , Keith Harshman , David N Cooper , Carmen Sandi , Michael J Soares , Paula G Ferreira , Sandra Afonso , Miguel Carneiro , James M A Turner , John L VandeBerg , Amir Fallahshahroudi , Per Jensen , Rüdiger Behr , Steven Lisgo , Susan Lindsay , Philipp Khaitovich , Wolfgang Huber , Julie Baker , Simon Anders , Yong E Zhang , Henrik Kaessmann

Heritable pattern of oxidized DNA base repair coincides with pre-targeting of repair complexes to open chromatin.

Nucleic acids research

Avec: Albino Bacolla , Shiladitya Sengupta , Zu Ye , Chunying Yang , Joy Mitra , Ruth B De-Paula , Muralidhar L Hegde , Zamal Ahmed , David N Cooper , Sankar Mitra , John A Tainer

Réseau de co-auteurs

David N Cooper 16 collaborations

Peter D Stenson 4 collaborations

Matthew Hayden 3 collaborations

Predrag Radivojac 3 collaborations

Edward V Ball 2 collaborations

Peter Giles 2 collaborations

Emma Short 2 collaborations

Julian R Sampson 2 collaborations

Laura E Thomas 2 collaborations

Vikas Pejaver 2 collaborations

Robert Chen 2 collaborations

Áine Duffy 2 collaborations

Ha My Vy 2 collaborations

David Stein 2 collaborations

Joshua K Park 2 collaborations

Avner Schlessinger 2 collaborations

Yuval Itan 2 collaborations

Daniel M Jordan 2 collaborations

Ghislain Rocheleau 2 collaborations

Ron Do 2 collaborations

Kymberleigh A Pagel 2 collaborations

Jonathan Sebat 2 collaborations

Lilia M Iakoucheva 2 collaborations

Sean D Mooney 2 collaborations

Cong Fan 2 collaborations

Huiying Zhao 2 collaborations

Margarida Cardoso-Moreira 2 collaborations

Britta Velten 2 collaborations

Wolfgang Huber 2 collaborations

Henrik Kaessmann 2 collaborations

Albino Bacolla 2 collaborations

John A Tainer 2 collaborations

Molly Chapman 1 collaboration

Katy Evans 1 collaboration

Luisa Azevedo 1 collaboration

Sally Heywood 1 collaboration

David S Millar 1 collaboration

Andrew D Phillips 1 collaboration

Elena Meuser 1 collaboration

Kyle Chang 1 collaboration

Angharad Walters 1 collaboration

Joanna J Hurley 1 collaboration

Hannah D West 1 collaboration

Iain Perry 1 collaboration

Laura Reyes-Uribe 1 collaboration

Rebekah Truscott 1 collaboration

Nicholas Jones 1 collaboration

Rachel Lawrence 1 collaboration

Gareth Jenkins 1 collaboration

Sunil Dolwani 1 collaboration

Bilal Al-Sarireh 1 collaboration

Neil Hawkes 1 collaboration

Geraint T Williams 1 collaboration

Melissa W Taggart 1 collaboration

Kim Luetchford 1 collaboration

Patrick M Lynch 1 collaboration

Diantha Terlouw 1 collaboration

Maartje Nielsen 1 collaboration

Sarah-Jane Walton 1 collaboration

Andrew Latchford 1 collaboration

Susan K Clark 1 collaboration

Eduardo Vilar 1 collaboration

Ruchir Rastogi 1 collaboration

Ryan Chung 1 collaboration

Sindy Li 1 collaboration

Chang Li 1 collaboration

Kyoungyeul Lee 1 collaboration

Junwoo Woo 1 collaboration

Dong-Wook Kim 1 collaboration

Changwon Keum 1 collaboration

Giulia Babbi 1 collaboration

Pier Luigi Martelli 1 collaboration

Castrense Savojardo 1 collaboration

Rita Casadio 1 collaboration

Kirsley Chennen 1 collaboration

Thomas Weber 1 collaboration

Olivier Poch 1 collaboration

François Ancien 1 collaboration

Gabriel Cia 1 collaboration

Fabrizio Pucci 1 collaboration

Daniele Raimondi 1 collaboration

Wim Vranken 1 collaboration

Marianne Rooman 1 collaboration

Céline Marquet 1 collaboration

Tobias Olenyi 1 collaboration

Burkhard Rost 1 collaboration

Gaia Andreoletti 1 collaboration

Akash Kamandula 1 collaboration

Yisu Peng 1 collaboration

Constantina Bakolitsa 1 collaboration

Timothy Bergquist 1 collaboration

Xiaoming Liu 1 collaboration

Steven E Brenner 1 collaboration

Nilah M Ioannidis 1 collaboration

Ben O Petrazzini 1 collaboration

Danny Antaki 1 collaboration

AoJie Lian 1 collaboration

Robert Fragoza 1 collaboration

Jishnu Das 1 collaboration

Shayne D Wierbowski 1 collaboration

Jin Liang 1 collaboration

Tina N Tran 1 collaboration

Siqi Liang 1 collaboration

Juan F Beltran 1 collaboration

Christen A Rivera-Erick 1 collaboration

Kaixiong Ye 1 collaboration

Ting-Yi Wang 1 collaboration

Li Yao 1 collaboration

Xiaomu Wei 1 collaboration

Alon Keinan 1 collaboration

John C Schimenti 1 collaboration

Andrew G Clark 1 collaboration

Haiyuan Yu 1 collaboration

Hai Lin 1 collaboration

Katherine A Hargreaves 1 collaboration

Rudong Li 1 collaboration

Jill L Reiter 1 collaboration

Yue Wang 1 collaboration

Yaoqi Zhou 1 collaboration

Chi Zhang 1 collaboration

Michael T Eadon 1 collaboration

M Eileen Dolan 1 collaboration

Joseph Ipe 1 collaboration

Todd C Skaar 1 collaboration

Yunlong Liu 1 collaboration

James J Ashton 1 collaboration

Enrico Mossotto 1 collaboration

Imogen S Stafford 1 collaboration

Rachel Haggarty 1 collaboration

Tracy A F Coelho 1 collaboration

Akshay Batra 1 collaboration

Nadeem A Afzal 1 collaboration

David Bunyan 1 collaboration

Robert Mark Beattie 1 collaboration

Sarah Ennis 1 collaboration

Dan He 1 collaboration

Ling Li 1 collaboration

Huasong Zhang 1 collaboration

Feiyi Liu 1 collaboration

Shaoying Li 1 collaboration

Xuehao Xiu 1 collaboration

Mengling Qi 1 collaboration

Meng Meng 1 collaboration

Junping Ye 1 collaboration

Ben Omega Petrazzini 1 collaboration

Iain S Forrest 1 collaboration

Kyle Gibson 1 collaboration

Carla Márquez-Luna 1 collaboration

Marie Verbanck 1 collaboration

Alice Davies 1 collaboration

Alice Bolton 1 collaboration

Julie Maynard 1 collaboration

Claudia Consoli 1 collaboration

Iris Egner 1 collaboration

Hala Jundi 1 collaboration

Jin-Huan Lin 1 collaboration

Xin-Ying Tang 1 collaboration

Arnaud Boulling 1 collaboration

Wen-Bin Zou 1 collaboration

Emmanuelle Masson 1 collaboration

Yann Fichou 1 collaboration

Loann Raud 1 collaboration

Marlène Le Tertre 1 collaboration

Shun-Jiang Deng 1 collaboration

Isabelle Berlivet 1 collaboration

Chandran Ka 1 collaboration

Raphaël Leman 1 collaboration

Claude Houdayer 1 collaboration

Gerald Le Gac 1 collaboration

Zhao-Shen Li 1 collaboration

Claude Férec 1 collaboration

Zhuan Liao 1 collaboration

Jian-Min Chen 1 collaboration

Ioannis Sarropoulos 1 collaboration

Mónica Lopes-Marques 1 collaboration

João Carneiro 1 collaboration

António Azevedo 1 collaboration

Andreia P Amaro 1 collaboration

Luísa Azevedo 1 collaboration

Jorge Urresti 1 collaboration

Jose Lugo-Martinez 1 collaboration

Guan Ning Lin 1 collaboration

Hyun-Jun Nam 1 collaboration

Matthew D C Neville 1 collaboration

Robin Kohze 1 collaboration

Chaitanya Erady 1 collaboration

Narendra Meena 1 collaboration

Sudhakaran Prabakaran 1 collaboration

Ken Chen 1 collaboration

Yukai Wang 1 collaboration

Hildegard Kehrer-Sawatzki 1 collaboration

Jean Halbert 1 collaboration

Delphine Valloton 1 collaboration

Chunyan Chen 1 collaboration

Yi Shao 1 collaboration

Angélica Liechti 1 collaboration

Kelly Ascenção 1 collaboration

Coralie Rummel 1 collaboration

Svetlana Ovchinnikova 1 collaboration

Pavel V Mazin 1 collaboration

Ioannis Xenarios 1 collaboration

Keith Harshman 1 collaboration

Carmen Sandi 1 collaboration

Michael J Soares 1 collaboration

Paula G Ferreira 1 collaboration

Sandra Afonso 1 collaboration

Miguel Carneiro 1 collaboration

James M A Turner 1 collaboration

John L VandeBerg 1 collaboration

Amir Fallahshahroudi 1 collaboration

Per Jensen 1 collaboration

Rüdiger Behr 1 collaboration

Steven Lisgo 1 collaboration

Susan Lindsay 1 collaboration

Philipp Khaitovich 1 collaboration

Julie Baker 1 collaboration

Simon Anders 1 collaboration

Yong E Zhang 1 collaboration

Shiladitya Sengupta 1 collaboration

Zu Ye 1 collaboration

Chunying Yang 1 collaboration

Joy Mitra 1 collaboration

Ruth B De-Paula 1 collaboration

Muralidhar L Hegde 1 collaboration

Zamal Ahmed 1 collaboration

Sankar Mitra 1 collaboration