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Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies by Benjamin McClinton, Laura A. Crinnion, Martin McKibbin, Rajarshi Mukherjee, James A. Poulter, Claire E. L. Smith, Manir Ali, Christopher M. Watson, Chris F. Inglehearn, Carmel Toomes
Published 2023-06-01
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A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities by Claire E. L. Smith, Claire E. L. Smith, Jennifer Kirkham, Peter F. Day, Peter F. Day, Francesca Soldani, Esther J. McDerra, Esther J. McDerra, James A. Poulter, Christopher F. Inglehearn, Alan J. Mighell, Alan J. Mighell, Steven J. Brookes
Published 2017-05-01
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3
IDHwt glioblastomas can be stratified by their transcriptional response to standard treatment, with implications for targeted therapy by Georgette Tanner, Rhiannon Barrow, Shoaib Ajaib, Muna Al-Jabri, Nazia Ahmed, Steven Pollock, Martina Finetti, Nora Rippaus, Alexander F. Bruns, Khaja Syed, James A. Poulter, Laura Matthews, Thomas Hughes, Erica Wilson, Colin Johnson, Frederick S. Varn, Anke Brüning-Richardson, Catherine Hogg, Alastair Droop, Arief Gusnanto, Matthew A. Care, Luisa Cutillo, David R. Westhead, Susan C. Short, Michael D. Jenkinson, Andrew Brodbelt, Aruna Chakrabarty, Azzam Ismail, Roel G. W. Verhaak, Lucy F. Stead
Published 2024-02-01
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4
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis by Daan M. Panneman, Daan M. Panneman, Rebekkah J. Hitti-Malin, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Suzanne E. de Bruijn, Janine Reurink, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Elfride De Baere, Sandro Banfi, Sandro Banfi, Miriam Bauwens, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Béatrice Bocquet, Marieke De Bruyne, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Frauke Coppieters, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Robert Koenekoop, Bart de Koning, Bart P. Leroy, Bart P. Leroy, Bart P. Leroy, Bart P. Leroy, Martin McKibbin, Martin McKibbin, Isabelle Meunier, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Carlo Rivolta, Carlo Rivolta, Enrique Rodríguez de la Rúa, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A. H. J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J. M. Verhoeven, Virginie J. M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Christian Gilissen, Alexander Hoischen, Alexander Hoischen, Alexander Hoischen, Frans P. M. Cremers, Frans P. M. Cremers, Susanne Roosing, Susanne Roosing
Published 2023-02-01
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