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M

Matthew E. Hurles

wellcome sanger institute

118H-index
387Paper Count
12.9WCitation Count
Published Papers 170
Publication Date
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Common and rare genetic variant associations with cognitive performance across development in British birth cohorts
errNature Human Behaviour
IF15.9
err2026-07-10
err0
errOAAI
errDaniel S. Malawsky; Mahmoud Koko; Petr Danacek; Wei Huang; Olivia Wootton; Qin Qin Huang; Emma E. Wade; Sarah J. Lindsay; Rosalind Arden; Matthew E. Hurles; Hilary C. Martin
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Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders—the DDD-Africa study
errEuropean Journal of Human Genetics
IF4.6
err2026-07-09
err0
errOAAI
errNadja Louw; Prince Makay; Phelelani T. Mpangase; Barry Shingwenyana; Zandisiwe Goliath; Thirona Naicker; Laura M. Yates; Engela Honey; Gerrye Mubungu; Kris Van Den Bogaert; Helen V. Firth; Matthew E. Hurles; Prosper Lukusa Tshilobo; Koen Devriendt; Amanda Krause; Nadia Carstens; Aimé Lumaka; Zané Lombard
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errSave
Author Correction: Complex de novo structural variants are an underestimated cause of rare disorders
errNature Communications
IF15.7
err2026-02-17
err0
errOAAI
errHyunchul Jung; Tsun-Po Yang; Susan Walker; Petr Danecek; O. Isaac Garcia-Salinas; Matthew D. C. Neville; Joseph Christopher; Isidro Cortés-Ciriano; Helen Firth; Aylwyn Scally; Matthew Hurles; Peter Campbell; Raheleh Rahbari
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errSave
Complex de novo structural variants are an underestimated cause of rare disorders
errNature Communications
IF15.7
err2025-11-03
err0
errOAAI
errHyunchul Jung; Tsun-Po Yang; Susan Walker; Petr Danecek; O. Isaac Garcia-Salinas; Matthew D. C. Neville; Joseph Christopher; Isidro Cortés-Ciriano; Helen Firth; Aylwyn Scally; Matthew Hurles; Peter Campbell; Raheleh Rahbari
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errSave
Sperm sequencing reveals extensive positive selection in the male germline
errNature
IF48.5
err2025-10-08
err0
errOAAI
errMatthew D. C. Neville; Andrew R. J. Lawson; Rashesh Sanghvi; Federico Abascal; My H. Pham; Alex Cagan; Pantelis A. Nicola; Tetyana Bayzetinova; Adrian Baez-Ortega; Kirsty Roberts; Stefanie V. Lensing; Sara Widaa; Raul E. Alcantara; María Paz García; Sam Wadge; Michael R. Stratton; Peter J. Campbell; Kerrin Small; Iñigo Martincorena; Matthew E. Hurles; Raheleh Rahbari
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errSave
Polygenic scores for autism are associated with reduced neurite density in adults and children from the general population
errMOLECULAR PSYCHIATRY
IF10.1
err2025-02-24
err0
errOAAI
errGu, Yuanjun; Maria-Stauffer, Eva; Bedford, Saashi A.; Adhya, Deep; Allison, Carrie; Ayeung, Bonnie; Bamford, Rosie; Bethlehem, Richard; Biron-Shental, Tal; Burton, Graham; Davies, Jonathan; Davis, Joanna; Floris, Dori; Franklin, Alice; Gabis, Lidia; Geschwind, Daniel; Greenberg, David M.; Havdahl, Alexandra; Heazell, Alexander; Holt, Rosemary; Hurles, Matthew; Khan, Yumnah; Lai, Meng-Chuan; Lancaster, Madeline; Lombardo, Michael; Martinez, Jose Gonzalez; Mill, Jonathan; Musa, Mahmoud Koko; Niakan, Kathy; Pavlinek, Adam; Polit, Lucia Dutan; Radecki, Marcin; Rowitch, David; Sichlinger, Laura; Srivastava, Deepak; Tsompanidis, Alexandros; Uzefovsky, Florina; Weir, Elizabeth; Zhang, Xinhe; Borglum, Anders; Bybjerg-Grauholm, Jonas; Hougaard, David M.; Mors, Ole; Mortensen, Preben Bo; Nordentoft, Merete; Werge, Thomas; Romero-Garcia, Rafael; Grove, Jakob; Borglum, Anders D.; Martin, Hilary; Baron-Cohen, Simon; Bethlehem, Richard A. I.; Warrier, Varun
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errSave
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations
errNATURE GENETICS
IF31.8
err2024-09-23
err1
errOAAI
errChundru, V. Kartik; Zhang, Zhancheng; Walter, Klaudia; Lindsay, Sarah J.; Danecek, Petr; Eberhardt, Ruth Y.; Gardner, Eugene J.; Malawsky, Daniel S.; Wigdor, Emilie M.; Torene, Rebecca; Retterer, Kyle; Wright, Caroline F.; Olafsdottir, Hildur; Sacoto, Maria J. Guillen; Ayaz, Akif; Akbeyaz, Ismail Hakki; Tuerkdogan, Dilsad; Al Balushi, Aaisha Ibrahim; Bertoli-Avella, Aida; Bauer, Peter; Szenker-Ravi, Emmanuelle; Reversade, Bruno; Mcwalter, Kirsty; Sheridan, Eamonn; Firth, Helen V.; Hurles, Matthew E.; Samocha, Kaitlin E.; Ustach, Vincent D.; Martin, Hilary C.
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errSave
Saturation genome editing of BAP1 functionally classifies somatic and germline variants
errNATURE GENETICS
IF31.8
err2024-07-05
err0
errOAAI
errWaters, Andrew J.; Brendler-Spaeth, Timothy; Smith, Danielle; Offord, Victoria; Tan, Hong Kee; Zhao, Yajie; Obolenski, Sofia; Nielsen, Maartje; van Doorn, Remco; Murphy, Jo-Ellen; Gupta, Prashant; Rowlands, Charlie F.; Hanson, Helen; Delage, Erwan; Thomas, Mark; Radford, Elizabeth J.; Gerety, Sebastian S.; Turnbull, Clare; Perry, John R. B.; Hurles, Matthew E.; Adams, David J.
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Methods applied to neonatal dried blood spot samples for secondary research purposes: a scoping review
errCRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES
IF5.5
err2024-06-10
err1
PREAI
errCanning, Jordan; Strawbridge, Rona J.; Miedzybrodzka, Zosia; Marioni, Riccardo E.; Melbye, Mads; Porteous, David J.; Hurles, Matthew E.; Sattar, Naveed; Sudlow, Cathie L. M.; Collins, Rory; Padmanabhan, Sandosh; Pell, Jill P.
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Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders
errSCIENTIFIC REPORTS
IF3.9
err2024-04-15
err0
errOAAI
errWigdor, Emilie M.; Samocha, Kaitlin E.; Eberhardt, Ruth Y.; Chundru, V. Kartik; Firth, Helen V.; Wright, Caroline F.; Hurles, Matthew E.; Martin, Hilary C.
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Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-03-04
err1
errOAAI
errAllen, Sophie; Garrett, Alice; Muffley, Lara; Fayer, Shawn; Foreman, Julia; Adams, David J.; Hurles, Matthew; Rubin, Alan F.; Roth, Frederick P.; Starita, Lea M.; Biesecker, Leslie G.; Turnbull, Clare
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Prospective study design and data analysis in UK Biobank
errSCIENCE TRANSLATIONAL MEDICINE
IF14.6
err2024-01-10
err12
errOAAI
errAllen, Naomi E.; Lacey, Ben; Lawlor, Deborah A.; Pell, Jill P.; Gallacher, John; Smeeth, Liam; Elliott, Paul; Matthews, Paul M.; Lyons, Ronan A.; Whetton, Anthony D.; Lucassen, Anneke; Hurles, Matthew E.; Chapman, Michael; Roddam, Andrew W.; Fitzpatrick, Natalie K.; Hansell, Anna L.; Hardy, Rebecca; Marioni, Riccardo E.; O'Donnell, Valerie B.; Williams, Julie; Lindgren, Cecilia M.; Effingham, Mark; Sellors, Jonathan; Danesh, John; Collins, Rory
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errSave
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation
errNATURE COMMUNICATIONS
IF15.7
err2023-12-06
err10
errOAAI
errRadford, Elizabeth J.; Tan, Hong-Kee; Andersson, Malin H. L.; Stephenson, James D.; Gardner, Eugene J.; Ironfield, Holly; Waters, Andrew J.; Gitterman, Daniel; Lindsay, Sarah; Abascal, Federico; Martincorena, Inigo; Kolesnik-Taylor, Anna; Ng-Cordell, Elise; Firth, Helen V.; Baker, Kate; Perry, John R. B.; Adams, David J.; Gerety, Sebastian S.; Hurles, Matthew E.
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errSave
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes
errBRAIN
IF11.7
err2023-07-12
err1
errOAAI
errLevitin, Maria O.; Rawlins, Lettie E.; Sanchez-Andrade, Gabriela; Arshad, Osama A.; Collins, Stephan C.; Sawiak, Stephen J.; Iffland II, Phillip H.; Andersson, Malin H. L.; Bupp, Caleb; Cambridge, Emma L.; Coomber, Eve L.; Ellis, Ian; Herkert, Johanna C.; Ironfield, Holly; Jory, Logan; Kretz, Perrine F.; Kant, Sarina G.; Neaverson, Alexandra; Nibbeling, Esther; Rowley, Christine; Relton, Emily; Sanderson, Mark; Scott, Ethan M.; Stewart, Helen; Shuen, Andrew Y.; Schreiber, John; Tuck, Liz; Tonks, James; Terkelsen, Thorkild; van Ravenswaaij-Arts, Conny; Vasudevan, Pradeep; Wenger, Olivia; Wright, Michael; Day, Andrew; Hunter, Adam; Patel, Minal; Lelliott, Christopher J.; Crino, Peter B.; Yalcin, Binnaz; Crosby, Andrew H.; Baple, Emma L.; Logan, Darren W.; Hurles, Matthew E.; Gerety, Sebastian S.
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errSave
An Atlas of Variant Effects to understand the genome at nucleotide resolution
errGENOME BIOLOGY
IF9.4
err2023-07-03
err29
errOAAI
errFowler, Douglas M.; Adams, David J.; Gloyn, Anna L.; Hahn, William C.; Marks, Debora S.; Muffley, Lara A.; Neal, James T.; Roth, Frederick P.; Rubin, Alan F.; Starita, Lea M.; Hurles, Matthew E.; Ahituv, Nadav; Bahcal, Orli G.; Baldridge, Dustin; Berg, Jonathan S.; Berger, Alice H.; Bianchi, Aisha Haley; Bolognesi, Benedetta; Boutros, Michael; Brenner, Steven; Brush, Matthew H.; Bryant, Vanessa; Bult, Carol J.; Bulyk, Martha; Call, Melissa; Carter, Hannah; Claussnitzer, Melina; Chen, Feng; Cline, Melissa S.; Cuperus, Josh T.; Dawood, Moez; De Jong, Hannah N.; Dias, Mafalda; Dunn, Michael; Engreitz, Jesse; Farh, Kyle; Febbo, Phillip G.; Fields, Stanley; Findlay, Gregory M.; Firth, Helen; Fraser, James S.; Frazer, Jonathan; Frontini, Mattia; Romero, Irene Gallego; Glazer, Andrew M.; Gueler, Murat; Hartmann-Petersen, Rasmus; Houlston, Richard; Huang, Kuan-Lin; Hutter, Carolyn M.; Jagannathan, Sujatha; James, Richard G.; Kampmann, Martin; Karchin, Rachel; Kinney, Justin B.; Komor, Alexis C.; Kosuri, Sriram; Lehner, Ben; Lindorff-Larsen, Kresten; Lombard, Zane; MacArthur, Daniel G.; Martin, Maria; McDermott, Ultan; McNulty, Shannon M.; Ba, Alex N. Nguyen; O'Donnell-Luria, Anne; O'Roak, Brian J.; Parikh, Victoria N.; Parts, Leopold; Pazin, Michael J.; Pesaran, Tina; Petrovski, Slave; Queitsch, Christine; Root, David E.; Shendure, Jay; Spurdle, Amanda B.; Taylor, Kevin L.; Turnbull, Clare; Villen, Judit; Vissers, L. E. L. M.; Wagner, Alex H.; Wakefield, Matthew J.; Weile, Jochen; Xiao, Jenny
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Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty
errJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
err2023-06-20
err7
errOAAI
errDuckett, Katie; Williamson, Alice; Kincaid, John W. R.; Rainbow, Kara; Corbin, Laura J.; Martin, Hilary C.; Eberhardt, Ruth Y.; Huang, Qin Qin; Hurles, Matthew E.; He, Wen; Brauner, Raja; Delaney, Angela; Dunkel, Leo; Grinspon, Romina P.; Hall, Janet E.; Hirschhorn, Joel N.; Howard, Sasha R.; Latronico, Ana C.; Jorge, Alexander A. L.; McElreavey, Ken; Mericq, Veronica; Merino, Paulina M.; Palmert, Mark R.; Plummer, Lacey; Rey, Rodolfo A.; Rezende, Raissa C.; Seminara, Stephanie B.; Salnikov, Kathryn; Banerjee, Indraneel; Lam, Brian Y. H.; Perry, John R. B.; Timpson, Nicholas J.; Clayton, Peter; Chan, Yee-Ming; Ong, Ken K.; O'Rahilly, Stephen
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The impact of rare protein coding genetic variation on adult cognitive function
errNATURE GENETICS
IF31.8
err2023-05-25
err14
errOAAI
errChen, Chia-Yen; Tian, Ruoyu; Ge, Tian; Lam, Max; Sanchez-Andrade, Gabriela; Singh, Tarjinder; Urpa, Lea; Liu, Jimmy Z.; Sanderson, Mark; Rowley, Christine; Ironfield, Holly; Fang, Terry; Daly, Mark; Palotie, Aarno; Tsai, Ellen A.; Huang, Hailiang; Hurles, Matthew E.; Gerety, Sebastian S.; Lencz, Todd; Runz, Heiko
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errSave
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland
errNEW ENGLAND JOURNAL OF MEDICINE
IF78.5
err2023-04-27
err67
errOAAI
errWright, Caroline F.; Campbell, Patrick; Eberhardt, Ruth Y.; Aitken, Stuart; Perrett, Daniel; Brent, Simon; Danecek, Petr; Gardner, Eugene J.; Chundru, V. Kartik; Lindsay, Sarah J.; Andrews, Katrina; Hampstead, Juliet; Kaplanis, Joanna; Samocha, Kaitlin E.; Middleton, Anna; Foreman, Julia; Hobson, Rachel J.; Parker, Michael J.; Martin, Hilary C.; FitzPatrick, David R.; Hurles, Matthew E.; Firth, Helen V.
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IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2023-01-01
err1
errOAAI
errAitken, Stuart; Firth, Helen, V; Wright, Caroline F.; Hurles, Matthew E.; FitzPatrick, David R.; Semple, Colin A.
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errSave
A minimal role for synonymous variation in human disease
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2022-12-01
err14
errOAAI
errDhindsa, Ryan S.; Wang, Quanli; Vitsios, Dimitrios; Burren, Oliver S.; Hu, Fengyuan; DiCarlo, James E.; Kruglyak, Leonid; MacArthur, Daniel G.; Hurles, Matthew E.; Petrovski, Slave
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Research Directions

No research directions
Co-authors
Cooperation Journals
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Mark J. Daly
H-index: 224 · Papers: 1.2K
M
Mark I. McCarthy
H-index: 222 · Papers: 1.5K
N
Naveed Sattar
H-index: 204 · Papers: 2.2K
P
Panos Deloukas
H-index: 197 · Papers: 764
E
Evan E. Eichler
H-index: 191 · Papers: 864
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