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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. 

EMBO J
Published
HNRNPH1 regulates the neuroprotective cold-shock protein RBM3 expression through poison exon exclusion.
Authors
Julie Qiaojin Lin, Deepak Khuperkar, Sofia Pavlou, Stanislaw Makarchuk, Nikolaos Patikas, Flora Cy Lee, Julia M Zbiegly, Jianning Kang, Sarah F Field, David Md Bailey, Joshua L Freeman, Jernej Ule, Emmanouil Metzakopian, Marc-David Ruepp, Giovanna R Mallucci
HNRNPH1 regulates the neuroprotective cold-shock protein RBM3 expression through poison exon exclusion.
bioRxiv
Published
Improved Protocol for Reproducible Human Cortical Organoids Reveals Early Alterations in Metabolism with MAPT Mutations.
Authors
Taylor Bertucci, Kathryn R Bowles, Steven Lotz, Le Qi, Katherine Stevens, Susan K Goderie, Susan Borden, Laura Maria Oja, Keith Lane, Ryan Lotz, Hailey Lotz, Rebecca Chowdhury, Shona Joy, Brigitte L Arduini, David C Butler, Michael Miller, Heide Baron, Carl Alexander Sandhof, M Catarina Silva, Stephen J Haggarty, Celeste M Karch, Daniel H Geschwind, Alison M Goate, Sally Temple
Improved Protocol for Reproducible Human Cortical Organoids Reveals Early Alterations in Metabolism with MAPT Mutations.
Cancer Discov
Published
Integrative Analysis of a Large Real-World Cohort of Small Cell Lung Cancer Identifies Distinct Genetic Subtypes and Insights into Histologic Transformation.
Authors
Smruthy Sivakumar, Jay A Moore, Meagan Montesion, Radwa Sharaf, Douglas I Lin, Caterina I Colón, Zoe Fleishmann, Ericka M Ebot, Justin Y Newberg, Jennifer M Mills, Priti S Hegde, Quintin Pan, Afshin Dowlati, Garrett M Frampton, Julien Sage, Christine M Lovly
Integrative Analysis of a Large Real-World Cohort of Small Cell Lung Cancer Identifies Distinct Genetic Subtypes and Insights into Histologic Transformation.
Brain
Published
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Authors
Zhongbo Chen, Arianna Tucci, Valentina Cipriani, Emil K Gustavsson, Kristina Ibañez, Regina H Reynolds, David Zhang, Letizia Vestito, Alejandro Cisterna García, Siddharth Sethi, Jonathan W Brenton, Sonia García-Ruiz, Aine Fairbrother-Browne, Ana-Luisa Gil-Martinez, Nick Wood, John A Hardy, Damian Smedley, Henry Houlden, Juan Botía, Mina Ryten
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Brain
Published
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Authors
Zhongbo Chen, Arianna Tucci, Valentina Cipriani, Emil K Gustavsson, Kristina Ibañez, Regina H Reynolds, David Zhang, Letizia Vestito, Alejandro Cisterna García, Siddharth Sethi, Jonathan W Brenton, Sonia García-Ruiz, Aine Fairbrother-Browne, Ana-Luisa Gil-Martinez, , Nick Wood, John A Hardy, Damian Smedley, Henry Houlden, Juan Botía, Mina Ryten
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
JAMA Neurol
Published
Isosorbide Mononitrate and Cilostazol Treatment in Patients With Symptomatic Cerebral Small Vessel Disease: The Lacunar Intervention Trial-2 (LACI-2) Randomized Clinical Trial.
Authors
Joanna M Wardlaw, Lisa J Woodhouse, Iris I Mhlanga, Katherine Oatey, Anna K Heye, John Bamford, Vera Cvoro, Fergus N Doubal, Timothy England, Ahamad Hassan, Alan Montgomery, John T O'Brien, Christine Roffe, Nikola Sprigg, David J Werring, Philip M Bath
Isosorbide Mononitrate and Cilostazol Treatment in Patients With Symptomatic Cerebral Small Vessel Disease: The Lacunar Intervention Trial-2 (LACI-2) Randomized Clinical Trial.
JAMA Neurol
Published
Isosorbide Mononitrate and Cilostazol Treatment in Patients With Symptomatic Cerebral Small Vessel Disease: The Lacunar Intervention Trial-2 (LACI-2) Randomized Clinical Trial.
Authors
Joanna M Wardlaw, Lisa J Woodhouse, Iris I Mhlanga, Katherine Oatey, Anna K Heye, John Bamford, Vera Cvoro, Fergus N Doubal, Timothy England, Ahamad Hassan, Alan Montgomery, John T O'Brien, Christine Roffe, Nikola Sprigg, David J Werring, Philip M Bath,
Isosorbide Mononitrate and Cilostazol Treatment in Patients With Symptomatic Cerebral Small Vessel Disease: The Lacunar Intervention Trial-2 (LACI-2) Randomized Clinical Trial.