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A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome. by Christopher M Watson, Laura A Crinnion, Sally M Harrison, Carolina Lascelles, Agne Antanaviciute, Ian M Carr, David T Bonthron, Eamonn Sheridan
Published 2016-01-01Get full text
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AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data by Christopher M. Watson, Carolina Lascelles, Morag Raynor, Marilena Elpidorou, Ummey Hany, Laura Crinnion, Colin A. Johnson, Eamonn Sheridan, Alexander F. Markham, James A. Poulter, David T. Bonthron, Ian M. Carr
Published 2025-06-01Get full text
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Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. by Christopher M Watson, Mohammed El-Asrag, David A Parry, Joanne E Morgan, Clare V Logan, Ian M Carr, Eamonn Sheridan, Ruth Charlton, Colin A Johnson, Graham Taylor, Carmel Toomes, Martin McKibbin, Chris F Inglehearn, Manir Ali
Published 2014-01-01Get full text
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A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development. by Christine P Diggle, Isabel Martinez-Garay, Zoltan Molnar, Martin H Brinkworth, Ed White, Ewan Fowler, Ruth Hughes, Bruce E Hayward, Ian M Carr, Christopher M Watson, Laura Crinnion, Aruna Asipu, Ben Woodman, P Louise Coletta, Alexander F Markham, T Neil Dear, David T Bonthron, Michelle Peckham, Ewan E Morrison, Eamonn Sheridan
Published 2017-01-01Get full text
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Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability by Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A de Moura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls
Published 2023-04-01Get full text
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Concordant association of insulin degrading enzyme gene (IDE) variants with IDE mRNA, Abeta, and Alzheimer's disease. by Minerva M Carrasquillo, Olivia Belbin, Olivia Belbin, Fanggeng Zou, Mariet Allen, Nilufer Ertekin-Taner, Morad Ansari, Samantha L Wilcox, Mariah R Kashino, Li Ma, Linda H Younkin, Samuel G Younkin, Curtis S Younkin, Toros A Dincman, Melissa E Howard, Chanley C Howell, Chloe M Stanton, Christopher M Watson, Michael Crump, Veronique Vitart, Caroline Hayward, Nicholas D Hastie, Igor Rudan, Harry Campbell, Ozren Polasek, Kristelle Brown, Peter Passmore, David Craig, Bernadette McGuinness, Stephen Todd, Patrick G Kehoe, David M Mann, A David Smith, Helen Beaumont, Donald Warden, Clive Holmes, Reinhard Heun, Heike Kölsch, Noor Kalsheker, V Shane Pankratz, Dennis W Dickson, Neill R Graff-Radford, Ronald C Petersen, Alan F Wright, Steven G Younkin, Kevin Morgan
Published 2010-01-01Get full text
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