Search Results - Kelly Eggleton

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  1. 1
    Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease

    Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease by Christopher J. Record, Menelaos Pipis, Mariola Skorupinska, Julian Blake, Roy Poh, James M. Polke, Kelly Eggleton, Tina Nanji, Stephan Züchner, Andrea Cortese, Henry Houlden, Alexander M. Rossor, Matilde Laurá, Mary M. Reilly

    Published 2024
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    Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

    Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study by Kristina Ibáñez, James M. Polke, R. Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko, Ellen Thomas, Louise C. Daugherty, Dalia Kasperavičiūtė, Katherine R. Smith, Zandra C. Deans, Sue Hill, Tom Fowler, Richard H. Scott, John Hardy, Patrick F. Chinnery, Henry Houlden, Augusto Rendon, Mark J. Caulfield, Michael A. Eberle, Ryan J. Taft, Arianna Tucci, Ellen M. McDonagh, Antonio Rueda, Dimitris Polychronopoulos, G. C. Chan, Heather Angus‐Leppan, Kailash P. Bhatia, James Davison, Richard Festenstein, Pietro Fratta, Paola Giunti, Robin Howard, Laxmi Venkata, Matilde Laurá, Meriel McEntagart, Lara Menzies, Huw R. Morris, Mary M. Reilly, Robert Robinson, Elisabeth Rosser, Francesca Faravelli, Anette Schrag, Jonathan M. Schott, Thomas T. Warner, Nicholas Wood, David Bourn, Kelly Eggleton, Robyn Labrum, Philip Twiss, Stephen Abbs, Liana Santos, Ghareesa Almheiri, Isabella Sheikh, Jana Vandrovcová, Christine Patch, Ana Lisa Taylor Tavares, Zerin Hyder, Anna C. Need, Helen Brittain, Emma L. Baple, Loukas Moutsianas, Viraj Deshpande, Denise Perry, Subramanian S. Ajay, Aditi Chawla, Vani Rajan, Kathryn Oprych, Patrick F. Chinnery, Angela Douglas, Gill Wilson, Sian Ellard, I. Karen Temple, Andrew Mumford, Dom McMullan, Kikkeri N. Naresh, Frances Flinter, Jenny C. Taylor, Lynn Greenhalgh, William G. Newman, Paul M. Brennan, John A. Sayer, F. Lucy Raymond, Lyn S. Chitty, John C. Ambrose, Prabhu Arumugam, Marta Bleda, F. Boardman-Pretty, Jeanne M. Boissiere, C. R. Boustred, C. E. H. Craig, Anna de Burca, A. Devereau, Greg Elgar, Rebecca E. Foulger, Pedro Furió‐Tarí, Joanne Hackett, Dina Halai, Angela Hamblin, Shirley Henderson, James Holman

    Published 2022
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