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Publications

Our scientific output and findings

From groundbreaking discoveries in basic science to innovative clinical insights, our publications showcase the breadth and depth of research taking place at the UK DRI. 

Cell Rep
Published

The Developmental Shift of NMDA Receptor Composition Proceeds Independently of GluN2 Subunit-Specific GluN2 C-Terminal Sequences.

Authors
Sean McKay, Tomás J Ryan, Jamie McQueen, Tim Indersmitten, Katie F M Marwick, Philip Hasel, Maksym V Kopanitsa, Paul S Baxter, Marc-André Martel, Peter C Kind, David J A Wyllie, Thomas J O'Dell, Seth G N Grant, Giles E Hardingham, Noboru H Komiyama
The Developmental Shift of NMDA Receptor Composition Proceeds Independently of GluN2 Subunit-Specific GluN2 C-Terminal Sequences.
Stem Cell Reports
Published

Reproducibility of Molecular Phenotypes after Long-Term Differentiation to Human iPSC-Derived Neurons: A Multi-Site Omics Study.

Authors
Viola Volpato, James Smith, Cynthia Sandor, Janina S Ried, Anna Baud, Adam Handel, Sarah E Newey, Frank Wessely, Moustafa Attar, Emma Whiteley, Satyan Chintawar, An Verheyen, Thomas Barta, Majlinda Lako, Lyle Armstrong, Caroline Muschet, Anna Artati, Carlo Cusulin, Klaus Christensen, Christoph Patsch, Eshita Sharma, Jerome Nicod, Philip Brownjohn, Victoria Stubbs, Wendy E Heywood, Paul Gissen, Roberta De Filippis, Katharina Janssen, Peter Reinhardt, Jerzy Adamski, Ines Royaux, Pieter J Peeters, Georg C Terstappen, Martin Graf, Frederick J Livesey, Colin J Akerman, Kevin Mills, Rory Bowden, George Nicholson, Caleb Webber, M Zameel Cader, Viktor Lakics
Reproducibility of Molecular Phenotypes after Long-Term Differentiation to Human iPSC-Derived Neurons: A Multi-Site Omics Study.
Nat Genet
Published

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

Authors
Evangelos Evangelou, Helen R Warren, David Mosen-Ansorena, Borbala Mifsud, Raha Pazoki, He Gao, Georgios Ntritsos, Niki Dimou, Claudia P Cabrera, Ibrahim Karaman, Fu Liang Ng, Marina Evangelou, Katarzyna Witkowska, Evan Tzanis, Jacklyn N Hellwege, Ayush Giri, Digna R Velez Edwards, Yan V Sun, Kelly Cho, J Michael Gaziano, Peter W F Wilson, Philip S Tsao, Csaba P Kovesdy, Tonu Esko, Reedik Mägi, Lili Milani, Peter Almgren, Thibaud Boutin, Stéphanie Debette, Jun Ding, Franco Giulianini, Elizabeth G Holliday, Anne U Jackson, Ruifang Li-Gao, Wei-Yu Lin, Jian'an Luan, Massimo Mangino, Christopher Oldmeadow, Bram Peter Prins, Yong Qian, Muralidharan Sargurupremraj, Nabi Shah, Praveen Surendran, Sébastien Thériault, Niek Verweij, Sara M Willems, Jing-Hua Zhao, Philippe Amouyel, John Connell, Renée de Mutsert, Alex S F Doney, Martin Farrall, Cristina Menni, Andrew D Morris, Raymond Noordam, Guillaume Paré, Neil R Poulter, Denis C Shields, Alice Stanton, Simon Thom, Gonçalo Abecasis, Najaf Amin, Dan E Arking, Kristin L Ayers, Caterina M Barbieri, Chiara Batini, Joshua C Bis, Tineka Blake, Murielle Bochud, Michael Boehnke, Eric Boerwinkle, Dorret I Boomsma, Erwin P Bottinger, Peter S Braund, Marco Brumat, Archie Campbell, Harry Campbell, Aravinda Chakravarti, John C Chambers, Ganesh Chauhan, Marina Ciullo, Massimiliano Cocca, Francis Collins, Heather J Cordell, Gail Davies, Martin H de Borst, Eco J de Geus, Ian J Deary, Joris Deelen, Fabiola Del Greco M, Cumhur Yusuf Demirkale, Marcus Dörr, Georg B Ehret, Roberto Elosua, Stefan Enroth, A Mesut Erzurumluoglu, Teresa Ferreira, Mattias Frånberg, Oscar H Franco, Ilaria Gandin, Paolo Gasparini, Vilmantas Giedraitis, Christian Gieger, Giorgia Girotto, Anuj Goel, Alan J Gow, Vilmundur Gudnason, Xiuqing Guo, Ulf Gyllensten, Anders Hamsten, Tamara B Harris, Sarah E Harris, Catharina A Hartman, Aki S Havulinna, Andrew A Hicks, Edith Hofer, Albert Hofman, Jouke-Jan Hottenga, Jennifer E Huffman, Shih-Jen Hwang, Erik Ingelsson, Alan James, Rick Jansen, Marjo-Riitta Jarvelin, Roby Joehanes, Åsa Johansson, Andrew D Johnson, Peter K Joshi, Pekka Jousilahti, J Wouter Jukema, Antti Jula, Mika Kähönen, Sekar Kathiresan, Bernard D Keavney, Kay-Tee Khaw, Paul Knekt, Joanne Knight, Ivana Kolcic, Jaspal S Kooner, Seppo Koskinen, Kati Kristiansson, Zoltan Kutalik, Maris Laan, Marty Larson, Lenore J Launer, Benjamin Lehne, Terho Lehtimäki, David C M Liewald, Li Lin, Lars Lind, Cecilia M Lindgren, YongMei Liu, Ruth J F Loos, Lorna M Lopez, Yingchang Lu, Leo-Pekka Lyytikäinen, Anubha Mahajan, Chrysovalanto Mamasoula, Jaume Marrugat, Jonathan Marten, Yuri Milaneschi, Anna Morgan, Andrew P Morris, Alanna C Morrison, Peter J Munson, Mike A Nalls, Priyanka Nandakumar, Christopher P Nelson, Teemu Niiranen, Ilja M Nolte, Teresa Nutile, Albertine J Oldehinkel, Ben A Oostra, Paul F O'Reilly, Elin Org, Sandosh Padmanabhan, Walter Palmas, Aarno Palotie, Alison Pattie, Brenda W J H Penninx, Markus Perola, Annette Peters, Ozren Polasek, Peter P Pramstaller, Quang Tri Nguyen, Olli T Raitakari, Meixia Ren, Rainer Rettig, Kenneth Rice, Paul M Ridker, Janina S Ried, Harriëtte Riese, Samuli Ripatti, Antonietta Robino, Lynda M Rose, Jerome I Rotter, Igor Rudan, Daniela Ruggiero, Yasaman Saba, Cinzia F Sala, Veikko Salomaa, Nilesh J Samani, Antti-Pekka Sarin, Reinhold Schmidt, Helena Schmidt, Nick Shrine, David Siscovick, Albert V Smith, Harold Snieder, Siim Sõber, Rossella Sorice, John M Starr, David J Stott, David P Strachan, Rona J Strawbridge, Johan Sundström, Morris A Swertz, Kent D Taylor, Alexander Teumer, Martin D Tobin, Maciej Tomaszewski, Daniela Toniolo, Michela Traglia, Stella Trompet, Jaakko Tuomilehto, Christophe Tzourio, André G Uitterlinden, Ahmad Vaez, Peter J van der Most, Cornelia M van Duijn, Anne-Claire Vergnaud, Germaine C Verwoert, Veronique Vitart, Uwe Völker, Peter Vollenweider, Dragana Vuckovic, Hugh Watkins, Sarah H Wild, Gonneke Willemsen, James F Wilson, Alan F Wright, Jie Yao, Tatijana Zemunik, Weihua Zhang, John R Attia, Adam S Butterworth, Daniel I Chasman, David Conen, Francesco Cucca, John Danesh, Caroline Hayward, Joanna M M Howson, Markku Laakso, Edward G Lakatta, Claudia Langenberg, Olle Melander, Dennis O Mook-Kanamori, Colin N A Palmer, Lorenz Risch, Robert A Scott, Rodney J Scott, Peter Sever, Tim D Spector, Pim van der Harst, Nicholas J Wareham, Eleftheria Zeggini, Daniel Levy, Patricia B Munroe, Christopher Newton-Cheh, Morris J Brown, Andres Metspalu, Adriana M Hung, Christopher J O'Donnell, Todd L Edwards, Bruce M Psaty, Ioanna Tzoulaki, Michael R Barnes, Louise V Wain, Paul Elliott, Mark J Caulfield,
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.
Neurobiol Aging
Published

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia.

Authors
Soragia Athina Gkazi, Claire Troakes, Simon Topp, Jack W Miller, Caroline A Vance, Jemeen Sreedharan, Ammar Al-Chalabi, Janine Kirby, Pamela J Shaw, Safa Al-Sarraj, Andrew King, Bradley N Smith, Christopher E Shaw
Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia.
Alzheimers Res Ther
Published

Cerebrospinal fluid soluble TREM2 levels in frontotemporal dementia differ by genetic and pathological subgroup.

Authors
Ione O C Woollacott, Jennifer M Nicholas, Amanda Heslegrave, Carolin Heller, Martha S Foiani, Katrina M Dick, Lucy L Russell, Ross W Paterson, Ashvini Keshavan, Nick C Fox, Jason D Warren, Jonathan M Schott, Henrik Zetterberg, Jonathan D Rohrer
Cerebrospinal fluid soluble TREM2 levels in frontotemporal dementia differ by genetic and pathological subgroup.
Brain
Published

Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP.

Authors
Frances K Wiseman, Laura J Pulford, Chris Barkus, Fan Liao, Erik Portelius, Robin Webb, Lucia Chávez-Gutiérrez, Karen Cleverley, Sue Noy, Olivia Sheppard, Toby Collins, Caroline Powell, Claire J Sarell, Matthew Rickman, Xun Choong, Justin L Tosh, Carlos Siganporia, Heather T Whittaker, Floy Stewart, Maria Szaruga, , Michael P Murphy, Kaj Blennow, Bart de Strooper, Henrik Zetterberg, David Bannerman, David M Holtzman, Victor L J Tybulewicz, Elizabeth M C Fisher,
Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP.
Neurobiol Aging
Published

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.

Authors
Martina de Majo, Simon D Topp, Bradley N Smith, Agnes L Nishimura, Han-Jou Chen, Athina Soragia Gkazi, Jack Miller, Chun Hao Wong, Caroline Vance, Frank Baas, Anneloor L M A Ten Asbroek, Kevin P Kenna, Nicola Ticozzi, Alberto Garcia Redondo, Jesús Esteban-Pérez, Cinzia Tiloca, Federico Verde, Stefano Duga, Karen E Morrison, Pamela J Shaw, Janine Kirby, Martin R Turner, Kevin Talbot, Orla Hardiman, Jonathan D Glass, Jacqueline de Belleroche, Cinzia Gellera, Antonia Ratti, Ammar Al-Chalabi, Robert H Brown, Vincenzo Silani, John E Landers, Christopher E Shaw
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.
Cell Rep
Published

CaMKII Metaplasticity Drives Aβ Oligomer-Mediated Synaptotoxicity.

Authors
Patricio Opazo, Silvia Viana da Silva, Mario Carta, Christelle Breillat, Steven J Coultrap, Dolors Grillo-Bosch, Matthieu Sainlos, Françoise Coussen, K Ulrich Bayer, Christophe Mulle, Daniel Choquet
CaMKII Metaplasticity Drives Aβ Oligomer-Mediated Synaptotoxicity.
Am J Psychiatry
Published

Analysis of DNA Methylation in Young People: Limited Evidence for an Association Between Victimization Stress and Epigenetic Variation in Blood.

Authors
Sarah J Marzi, Karen Sugden, Louise Arseneault, Daniel W Belsky, Joe Burrage, David L Corcoran, Andrea Danese, Helen L Fisher, Eilis Hannon, Terrie E Moffitt, Candice L Odgers, Carmine Pariante, Richie Poulton, Benjamin S Williams, Chloe C Y Wong, Jonathan Mill, Avshalom Caspi
Analysis of DNA Methylation in Young People: Limited Evidence for an Association Between Victimization Stress and Epigenetic Variation in Blood.