Search Results - C.E.H. Craig

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  1. 1
    Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

    Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans by Wei Wei, Alistair T. Pagnamenta, Nicholas Gleadall, Alba Sanchis‐Juan, Jonathan Stephens, John Broxholme, Salih Tuna, Christopher A. Odhams, John C. Ambrose, E. L. Baple, Marta Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred, Mark J. Caulfield, G. C. Chan, C. E. H. Craig, Louise C. Daugherty, Anna de Burca, A. Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, Pedro Furió‐Tarí, J. M. Hackett, Dina Halai, J. E. Holman, Tim Hubbard, R. Jackson, D. Kasperaviciute, Melis Kayikci, L. Lahnstein, Kim Lawson, S. E. A. Leigh, I. U. S. Leong, F. J. Lopez, F. Maleady-Crowe, Joanne Mason, Ellen M. McDonagh, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, A. C. Need, Christopher A. Odhams, Christine Patch, D. Perez-Gil, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Augusto Rendon, Pablo Riesgo-Ferreiro, Tim Rogers, Mina Ryten, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Damian Smedley, Katherine R. Smith, Alona Sosinsky, W. Spooner, Hallam Stevens, A. Stuckey, Rukhsana Sultana, Ellen Thomas, S. R. Thompson, Carolyn Tregidgo, Arianna Tucci, Elizabeth T. Walsh, Scott Watters, M. J. Welland, Eric O. Williams, Katarzyna Witkowska, S. M. Wood, Magdalena Zarowiecki, Alba Sanchis‐Juan, Jonathan Stephens, Salih Tuna, Ernest Turro, Patrick F. Chinnery, Carl Fratter, Ernest Turro, Mark J. Caulfield, Jenny C. Taylor, Shamima Rahman, Patrick F. Chinnery

    Published 2020
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  2. 2
    Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome

    Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome by Joel T. Gibson, Mary Huang, Marina Shenelli Croos Dabrera, Krushnam Shukla, H. Rothe, Pascale Hilbert, Constantinos Deltas, Helen Storey, Beata S. Lipska‐Ziętkiewicz, Melanie Chan, Omid Sadeghi‐Alavijeh, Daniel P. Gale, J. C. Ambrose, P. Arumugam, E. L. Baple, Marta Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, C. E. H. Craig, Louise C. Daugherty, Anna de Burca, A. Devereau, Greg Elgar, R. E. Foulger, Tom Fowler, Pedro Furió‐Tarí, A. Giess, J. M. Hackett, Dina Halai, Angela Hamblin, S. A. Henderson, J. E. Holman, Tim Hubbard, Kristina Ibáñez, R. Jackson, L. J. Jones, D. Kasperaviciute, Melis Kayikci, A. Kousathanas, L. Lahnstein, Kim Lawson, S. E. A. Leigh, Ivone Leong, F. J. Lopez, F. Maleady-Crowe, Joanne Mason, Ellen M. McDonagh, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Chris A. Odhams, Andrea Orioli, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Augusto Rendon, Pablo Riesgo-Ferreiro, T. Rogers, Mina Ryten, K. Savage, K. Sawant, Richard H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K. R. Smith, S. C. Smith, Alona Sosinsky, W. Spooner, H. E. Stevens, Alexander Stuckey, Razia Sultana Mohammad, M. Tanguy, Elaine Thomas, S. R. Thompson, Carolyn Tregidgo, Arianna Tucci, Edward E. Walsh, S. A. Watters, M. J. Welland, Eric O. Williams, Kate Witkowska, S. M. Wood, Magdalena Zarowiecki, Agnė Čerkauskaitė, Judy Savige

    Published 2022
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  3. 3
    Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli

    Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli by Cayetano Pleguezuelos‐Manzano, Jens Puschhof, Axel K.M. Rosendahl Huber, Arne van Hoeck, Henry M. Wood, Jason Nomburg, Carino Gurjao, Freek Manders, Guillaume Dalmasso, Paul B. Stege, Fernanda L. Paganelli, Maarten H. Geurts, Joep Beumer, Tomohiro Mizutani, Yi Miao, Reinier van der Linden, Stefan van der Elst, J. C. Ambrose, P. Arumugam, E. L. Baple, Marta Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred, H. Brittain, M. J. Caulfield, Gcf Chan, C. E. H. Craig, Louise C. Daugherty, Anna de Burca, A. Devereau, Greg Elgar, R. E. Foulger, Tom Fowler, Pedro Furió‐Tarí, J. M. Hackett, Dina Halai, Angela Hamblin, Seton Henderson, J. E. Holman, Tim Hubbard, Kristina Ibáñez, R. Jackson, Lesley Jones, D. Kasperaviciute, Melis Kayikci, L. Lahnstein, Lovett Lawson, S. E. A. Leigh, Ivone Leong, F. J. Lopez, F. Maleady-Crowe, James Mason, Ellen M. McDonagh, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, A. C. Need, Christopher A. Odhams, Christine Patch, D. Perez-Gil, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Augusto Rendon, Pablo Riesgo-Ferreiro, Tim Rogers, Mina Ryten, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Damian Smedley, Katherine R. Smith, Alona Sosinsky, W. Spooner, H. E. Stevens, Ashley Stuckey, Razia Sultana Mohammad, Elaine Thomas, S. R. Thompson, Carolyn Tregidgo, Arianna Tucci, Elizabeth T. Walsh, S. A. Watters, M. J. Welland, E. G. Williams, Kate Witkowska, S. M. Wood, Magdalena Zarowiecki, K. Christopher García, Janetta Top, Rob J. L. Willems, Marios Giannakis, R. Bonnet, Philip Quirke, Matthew Meyerson, Edwin Cuppen, Ruben van Boxtel

    Published 2020
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  4. 4
    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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  5. 5
    Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy

    Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy by Robert Lesurf, Abdelrahman Said, Oyediran Akinrinade, Jeroen Breckpot, Kathleen Delfosse, Ting Liu, Roderick Yao, Gabrielle Persad, Fintan McKenna, Ramil R. Noche, Winona Oliveros, Kaia Mattioli, Shreya Shah, Anastasia Miron, Qian Yang, Guoliang Meng, Michelle Chan‐Seng‐Yue, Wilson W. L. Sung, Bhooma Thiruvahindrapuram, Jane Lougheed, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John Smythe, Shashank Jayappa, Vinay J. Rao, Jayaprakash Shenthar, Perundurai S. Dhandapany, Christopher Semsarian, Robert G. Weintraub, Richard D. Bagnall, Jodie Ingles, John C. Ambrose, P. Arumugam, E. L. Baple, Marta Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, C. E. H. Craig, Louise C. Daugherty, Anna de Burca, A. Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, Pedro Furió‐Tarí, Adam Giess, J.M. Hackett, Dina Halai, Angela Hamblin, Shirley Henderson, John E. Holman, Tim Hubbard, Kristina Ibáñez, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, Katy L. Lawson, S. E. A. Leigh, I. U. S. Leong, Fabrice Lopez, F. Maleady-Crowe, Joanne Mason, Ellen M. McDonagh, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Christopher A. Odhams, Andrea Orioli, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Augusto Rendon, Pablo Riesgo-Ferreiro, T. Rogers, Mina Ryten, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Damian Smedley, K. R. Smith, Samuel C. Smith, Alona Sosinsky, Will Spooner, Hallam Stevens, A. Stuckey, Razia Sultana Mohammad

    Published 2022
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  6. 6
    Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis

    Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis by Natalia Dominik, Stefania Magri, Riccardo Currò, Elena Abati, Stefano Facchini, Marinella Corbetta, Hannah Macpherson, Daniela Di Bella, Elisa Sarto, Igor Stevanovski, Sanjog R. Chintalaphani, Fulya Akçimen, Arianna Manini, Elisa Vegezzi, Ilaria Quartesan, Kylie-Ann Montgomery, Valentina Pirota, Emmanuele Crespan, Cecilia Perini, Glenda Paola Grupelli, Pedro José Tomaselli, Wilson Marques, John C. Ambrose, Prabhu Arumugam, Emma L. Baple, Marta Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred, Helen Brittain, Mark J. Caulfield, Gary C.W. Chan, C.E.H. Craig, Louise C. Daugherty, Anna de Burca, A. Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, Pedro Furió‐Tarí, Emil K. Gustavsson, Janna M. Hackett, Dina Halai, Angela Hamblin, S Henderson, J. Holman, Tim Hubbard, Kristina Ibáñez, Robert W. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, L. Lahnstein, Keith A. Lawson, S. E. A. Leigh, I. U. S. Leong, Fernando López, F. Maleady-Crowe, James Mason, Ellen M. McDonagh, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Chris A. Odhams, Christine Patch, D. Perez-Gil, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Augusto Rendon, Pablo Riesgo-Ferreiro, Thomas R. Rogers, Mina Ryten, Bianca Rugginini, K Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Damian Smedley, Katherine R. Smith, Alona Sosinsky, W. Spooner, Hanna E. Stevens, Ashley Stuckey, Rukhsana Sultana, Ellen Thomas, Simon R. Thompson, Carolyn Tregidgo, Arianna Tucci, Edward E. Walsh, Scott Watters, M. J. Welland, Eleanor Williams, Kate Witkowska, Scott Wood, Magdalena Zarowiecki, Joseph Shaw, James M. Polke

    Published 2023
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  7. 7
    Human and mouse essentiality screens as a resource for disease gene discovery

    Human and mouse essentiality screens as a resource for disease gene discovery by Pilar Cacheiro, Violeta Muñoz‐Fuentes, Stephen A. Murray, Mary E. Dickinson, Maja Bućan, Lauryl M. J. Nutter, Kevin A. Peterson, Hamed Haselimashhadi, Ann M. Flenniken, Hugh W. Morgan, Henrik Westerberg, Tomasz Konopka, Chih‐Wei Hsu, Audrey E. Christiansen, Denise G. Lanza, Arthur L. Beaudet, Jason D. Heaney, Helmut Fuchs, Valérie Gailus‐Durner, Tania Sorg, Jan Procházka, Vendula Novosadová, Christopher J. Lelliott, Hannah Wardle‐Jones, Sara Wells, Lydia Teboul, Heather Cater, Michelle Stewart, Tertius Hough, Wolfgang Wurst, Radislav Sedláček, David J. Adams, John R. Seavitt, Glauco P. Tocchini‐Valentini, Fabio Mammano, Robert E. Braun, Colin McKerlie, Yann Hérault, Martin Hrabé de Angelis, Ann‐Marie Mallon, K. C. Kent Lloyd, Steve D. M. Brown, Helen Parkinson, Terrence F. Meehan, Damian Smedley, J. C. Ambrose, P. Arumugam, E. L. Baple, Marta Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred, H. Brittain, Mark J. Caulfield, Gcf Chan, C. E. H. Craig, Louise C. Daugherty, A. de Burca, A. Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, P. Furió-Tarí, J.M. Hackett, Dina Halai, Angela Hamblin, Seton Henderson, J. E. Holman, Tim Hubbard, Kristina Ibáñez, Richard V. Jackson, Lesley Jones, Dalia Kasperavičiūtė, M. Kayikci, L. Lahnstein, Kim Lawson, S. E. A. Leigh, Ivone Leong, F. J. Lopez, F. Maleady-Crowe, Joanne Mason, Ellen M. McDonagh, L. Moutsianas, Michael Mueller, Nirupa Murugaesu, A. C. Need, Christopher A. Odhams, C. Patch, D. Perez-Gil, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Álvaro Rendón, Pablo Riesgo-Ferreiro, Tim Rogers, Mina Ryten, K Savage, K. Sawant, Richard H. Scott, A. Siddiq

    Published 2020
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