Search Results - R. Fitzpatrick
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IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders by Stuart Aitken, Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, David R. FitzPatrick, Colin A. Semple
Published in HGG Advances (2023-01-01)Get full text
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An effluent pump family distributed across plant commensal bacteria conditions host- and organ-specific glucosinolate detoxification by Dor Russ, Connor R. Fitzpatrick, Chinmay Saha, Theresa F. Law, Corbin D. Jones, Daniel J. Kliebenstein, Jeffery L. Dangl
Published in Nature Communications (2025-07-01)Get full text
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Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations. by Louise Harewood, Monica Liu, Jean Keeling, Alan Howatson, Margo Whiteford, Peter Branney, Margaret Evans, Judy Fantes, David R Fitzpatrick
Published in PLoS ONE (2010-08-01)Get full text
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Returning genome sequences to research participants: Policy and practice [version 1; referees: 2 approved] by Caroline F. Wright, Anna Middleton, Jeffrey C. Barrett, Helen V. Firth, David R. FitzPatrick, Matthew E. Hurles, Michael Parker
Published in Wellcome Open Research (2017-02-01)Get full text
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Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants by Alexander F McDonnell, Marcin Plech, Benjamin J Livesey, Lukas Gerasimavicius, Liusaidh J Owen, Hildegard Nikki Hall, David R FitzPatrick, Joseph A Marsh, Grzegorz Kudla
Published in Molecular Systems Biology (2024-06-01)Get full text
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Author Correction: Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data by C. F. Wright, E. Prigmore, D. Rajan, J. Handsaker, J. McRae, J. Kaplanis, T. W. Fitzgerald, D. R. FitzPatrick, H. V. Firth, M. E. Hurles
Published in Nature Communications (2022-09-01)Get full text
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Electron paramagnetic resonance as a tool to determine the sodium charge storage mechanism of hard carbon by Bin Wang, Jack R. Fitzpatrick, Adam Brookfield, Alistair J. Fielding, Emily Reynolds, Jake Entwistle, Jincheng Tong, Ben F. Spencer, Sara Baldock, Katherine Hunter, Christopher M. Kavanagh, Nuria Tapia-Ruiz
Published in Nature Communications (2024-04-01)Get full text
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Single-cell analyses reveal transient retinal progenitor cells in the ciliary margin of developing human retina by Birthe Dorgau, Joseph Collin, Agata Rozanska, Darin Zerti, Adrienne Unsworth, Moira Crosier, Rafiqul Hussain, Jonathan Coxhead, Tamil Dhanaseelan, Aara Patel, Jane C. Sowden, David R. FitzPatrick, Rachel Queen, Majlinda Lako
Published in Nature Communications (2024-04-01)Get full text
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A trans-acting protein effect causes severe eye malformation in the Mp mouse. by Joe Rainger, Margaret Keighren, Douglas R Keene, Noe L Charbonneau, Jacqueline K Rainger, Malcolm Fisher, Sebastien Mella, Jeffrey T-J Huang, Lorraine Rose, Rob van't Hof, Lynne Y Sakai, Ian J Jackson, David R Fitzpatrick
Published in PLoS Genetics (2013-01-01)Get full text
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