Výsledky vyhledávání - Dimitris Polychronopoulos

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  1. 1
    Conserved non-coding elements: developmental gene regulation meets genome organization

    Conserved non-coding elements: developmental gene regulation meets genome organization Autor Dimitris Polychronopoulos, James W. D. King, Alexander J. Nash, Ge Tan, Boris Lenhard

    Vydáno 2017
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  2. 2
    A key role for Ctf4 in coupling the MCM2-7 helicase to DNA polymerase α within the eukaryotic replisome

    A key role for Ctf4 in coupling the MCM2-7 helicase to DNA polymerase α within the eukaryotic replisome Autor Agnieszka Gambus, Frederick van Deursen, Dimitris Polychronopoulos, Magdalena Foltman, Richard C. Jones, Ricky D. Edmondson, Arturo Calzada, Karim Labib

    Vydáno 2009
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  3. 3
    Understanding tumour growth variability in patient-derived breast cancer xenograft models identifies early responders and biomarkers of resistance to PARP inhibition

    Understanding tumour growth variability in patient-derived breast cancer xenograft models identifies early responders and biomarkers of resistance to PARP inhibition Autor Mark J. O’Connor, Dimitrios Voulgarelis, Josep V. Forment, Andrea Herencia-Ropero, Dimitris Polychronopoulos, Andreas Bender, Violeta Serra, James Yates, Krishna C. Bulusu

    Vydáno 2024
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  4. 4
    Knowledge Graph-based Recommendation Framework Identifies Novel Drivers of Resistance in EGFR mutant Non-small Cell Lung Cancer

    Knowledge Graph-based Recommendation Framework Identifies Novel Drivers of Resistance in EGFR mutant Non-small Cell Lung Cancer Autor Anna Gogleva, Dimitris Polychronopoulos, Matthias Pfeifer, Vladimir Poroshin, M. Ughetto, Ben S. Sidders, Jonathan R. Dry, Miika Ahdesmäki, Ultan McDermott, Eliseo Papa, Krishna C. Bulusu

    Vydáno 2021
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  5. 5
    Knowledge graph-based recommendation framework identifies drivers of resistance in EGFR mutant non-small cell lung cancer

    Knowledge graph-based recommendation framework identifies drivers of resistance in EGFR mutant non-small cell lung cancer Autor Anna Gogleva, Dimitris Polychronopoulos, Matthias Pfeifer, Vladimir Poroshin, M. Ughetto, Matthew J. Martin, Hannah Thorpe, Aurélie Bornot, Paul D. Smith, Ben Sidders, Jonathan R. Dry, Miika Ahdesmäki, Ultan McDermott, Eliseo Papa, Krishna C. Bulusu

    Vydáno 2022
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  6. 6
    An overview of the BIOASQ large-scale biomedical semantic indexing and question answering competition

    An overview of the BIOASQ large-scale biomedical semantic indexing and question answering competition Autor George Tsatsaronis, Georgios Balikas, Prodromos Malakasiotis, Ioannis Partalas, Matthias Zschunke, Michael R. Alvers, Dirk Weissenborn, Anastasia Krithara, Sergios Petridis, Dimitris Polychronopoulos, Yannis Almirantis, John Pavlopoulos, Nicolas Baskiotis, Patrick Gallinari, Thierry Artières, Axel-Cyrille Ngonga Ngomo, Norman Heino, Éric Gaussier, Liliana Barrio-Alvers, Michael Schroeder, Ion Androutsopoulos, Γεώργιος Παλιούρας

    Vydáno 2015
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  7. 7
    Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia

    Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia Autor Zhongbo Chen, Arianna Tucci, Valentina Cipriani, Emil K. Gustavsson, Kristina Ibáñez, Regina H. Reynolds, David Zhang, Letizia Vestito, Alejandro Cisterna‐García, Siddharth Sethi, Jonathan Brenton, Sonia García-Ruiz, Aine Fairbrother-Browne, Ana-Luisa Gil-Martínez, John C. Ambrose, Prabhu Arumugam, Marta Bleda, F. Boardman-Pretty, Jeanne M. Boissiere, C. R. Boustred, Clare 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, Tim Hubbard, R. Jackson, J. Louise Jones, Melis Kayikci, L. Lahnstein, Kay Lawson, Sarah E A Leigh, Ivonne U S Leong, Javier F Lopez, F. Maleady-Crowe, Joanne Mason, Michael Mueller, Nirupa Murugaesu, Chris A Odhams, D. Perez-Gil, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Pablo Riesgo-Ferreiro, Tim Rogers, Mina Ryten, K. Savage, Kushmita Sawant, Afshan Siddiq, A. Sieghart, Damian Smedley, Alona Sosinsky, William Spooner, Helen E. Stevens, Alexander Stuckey, Răzvan Sultana, Simon R. Thompson, Carolyn Tregidgo, Emma Walsh, Sarah A. Watters, Matthew J Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M Wood, Magdalena Zarowiecki, Nicholas Wood, John Hardy, Damian Smedley, Henry Houlden, Juan A. Botía, Mina Ryten

    Vydáno 2023
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  8. 8
    Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

    Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans Autor 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

    Vydáno 2020
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  9. 9
    Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma

    Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma Autor Christine L. Jones, Andrea Degasperi, Vieri Grandi, Tauanne Dias Amarante, John C. Ambrose, Prabhu Arumugam, Emma L. Baple, Marta Bleda, F. Boardman-Pretty, Jeanne M. Boissiere, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Clare Craig, Louise C. Daugherty, Anna de Burca, A. Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, Pedro Furió‐Tarí, Adam Giess, Joanne M. Hackett, Dina Halai, Angela Hamblin, Shirley Henderson, J. Holman, Tim Hubbard, Kristina Ibáñez, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, Kay Lawson, S. E. A. Leigh, I. U. S. Leong, Javier Ferreiros, F. Maleady-Crowe, Joanne Mason, Ellen M. McDonagh, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Andrea Orioli, Christine Patch, Mariana Buongermino Pereira, D. Perez-Gil, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Augusto Rendon, Pablo Riesgo-Ferreiro, Tim Rogers, Mina Ryten, K. Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Damian Smedley, Katherine R. Smith, Samuel C. Smith, Alona Sosinsky, William Spooner, Helen Stevens, Alexander Stuckey, Răzvan Sultana, M. Tanguy, Ellen Thomas, Simon R. Thompson, Carolyn Tregidgo, Arianna Tucci, Emma Walsh, Sarah A. Watters, M. J. Welland, Eleanor C Williams, Katarzyna Witkowska, S. M. Wood, Magdalena Zarowiecki, Tracey J. Mitchell, Serena Nik‐Zainal, Sean Whittaker

    Vydáno 2021
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  10. 10
    Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

    Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy Autor David Parry, Carol-Anne Martin, Philip Greene, Joseph A. Marsh, John C. Ambrose, Prabhu Arumugam, E. L. Baple, Marta Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Candice 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, Kim 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, Katherine R. Smith, Samuel C. Smith, Alona Sosinsky, W. Spooner, Hallam Stevens, A. Stuckey, Rosy Sultana, M. Tanguy, E.R.A. Thomas, Simon R. Thompson, Carolyn Tregidgo, Arianna Tucci, Elizabeth T. Walsh, Scott Watters, M. J. Welland, Eric O. Williams, Katarzyna Witkowska, S. M. Wood, Magdalena Zarowiecki, Moira Blyth, Helen Cox, Deirdre Donnelly, Lynn Greenhalgh, Stephanie Greville‐Heygate, Victoria Harrison, Katherine Lachlan, Caoimhe McKenna, Alan J. Quigley, Gillian Rea, Lisa Robertson, Mohnish Suri, Andrew P. Jackson

    Vydáno 2020
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  11. 11
    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 Autor 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

    Vydáno 2022
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  12. 12
    100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

    100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report Autor Damian Smedley, Katherine R. Smith, A. Martı́n, Ellen A Thomas, Ellen M. McDonagh, Valentina Cipriani, Jamie M. Ellingford, Gavin Arno, Arianna Tucci, Jana Vandrovcová, G. C. Chan, Hywel Williams, Thiloka Ratnaike, Wei Wei, Kathleen Stirrups, Kristina Ibáñez, Loukas Moutsianas, Matthias Wielscher, Anna C. Need, Michael R. Barnes, Letizia Vestito, James Buchanan, Sarah Wordsworth, Sofie Ashford, Karola Rehmström, Emily Li, Gavin Fuller, Philip Twiss, Olivera Spasić-Bošković, Sally Halsall, R. Andres Floto, Kenneth Poole, Annette Wagner, Sarju Mehta, Mark Gurnell, Nigel Burrows, Roger James, Christopher J. Penkett, Eleanor Dewhurst, Stefan Gräf, Rutendo Mapeta, Mary Kasanicki, Andrea Haworth, Helen Savage, Melanie Babcock, Martin G. Reese, Mark Bale, Emma L. Baple, C. R. Boustred, Helen Brittain, Anna de Burca, Marta Bleda, A. Devereau, Dina Halai, Eik Haraldsdottir, Zerin Hyder, Dalia Kasperavičiūtė, Christine Patch, Dimitris Polychronopoulos, Angela Matchan, Răzvan Sultana, Mina Ryten, Ana Lisa Taylor Tavares, Carolyn Tregidgo, Clare Turnbull, M. J. Welland, S. M. Wood, Catherine Snow, Eleanor Williams, S. E. A. Leigh, Rebecca E. Foulger, Louise C. Daugherty, Olivia Niblock, Ivone Leong, Caroline F. Wright, Jim Davies, Charles Crichton, James Welch, Kerrie Woods, Lara Abulhoul, Paul Aurora, Detlef Böckenhauer, Alexander Broomfield, Maureen Cleary, Tanya Lam, Mehul Dattani, Emma Footitt, Vijeya Ganesan, Stephanie Grünewald, Sandrine Compeyrot‐Lacassagne, Francesco Muntoni, Clarissa Pilkington, Rosaline C. M. Quinlivan, Nikhil Thapar, Colin Wallis, Lucy R. Wedderburn, Austen Worth, Teofila Bueser, Cecilia Compton, Charu Deshpande

    Vydáno 2021
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  13. 13
    Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli

    Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli Autor 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

    Vydáno 2020
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  14. 14
    DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

    DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration Autor Anjali Vig, James A. Poulter, Diego Ottaviani, Erika Tavares, Katerina Toropova, Anna M. Tracewska, Antonio Mollica, Jasmine Kang, Oshini Kehelwathugoda, Tara Paton, Jason T. Maynes, Gabrielle Wheway, Gavin Arno, John C. Ambrose, Prabhu Arumugam, Emma L. Baple, Marta Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Candice Craig, Louise C. Daugherty, Anna de Burca, A. Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, Pedro Furió‐Tarí, 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, L. Lahnstein, Kim 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, Christine Patch, D. Perez-Gil, 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, D. Smedley, Katherine R. Smith, Alona Sosinsky, W. Spooner, Hallam Stevens, Alexander Stuckey, Rosy Sultana, Ellen Thomas, Simon R. Thompson, Carolyn Tregidgo, Arianna Tucci, Elizabeth T. Walsh, Scott Watters, M. J. Welland, Eric O. Williams, Katarzyna Witkowska, S. M. Wood, Magdalena Zarowiecki, Kamron Khan, Martin McKibbin, Carmel Toomes, Manir Ali, Matteo Di Scipio, Shuning Li, Jamie M. Ellingford, Graeme Black, Andrew R. Webster, Małgorzata Rydzanicz, Piotr Stawiński, Rafał Płoski, Ajoy Vincent

    Vydáno 2020
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  15. 15
    A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage

    A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage Autor Xueqing Zou, Gene Ching Chiek Koh, Arjun S. Nanda, Andrea Degasperi, Katie Urgo, Theodoros I. Roumeliotis, Chukwuma A. Agu, Cherif Badja, Sophie Momen, Jamie Young, Tauanne Dias Amarante, Lucy Side, Glen Brice, Vanesa Pérez‐Alonso, Daniel Rueda, Céline Gomez, Wendy Bushell, Rebecca Harris, Jyoti S. Choudhary, John C. Ambrose, Prabhu Arumugam, Emma L. Baple, Marta Bleda, F. Boardman-Pretty, Jeanne M. Boissiere, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Clare Craig, Louise C. Daugherty, Anna de Burca, A. Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, Pedro Furió‐Tarí, Adam Giess, Joanne M. Hackett, Dina Halai, Angela Hamblin, Bingyang Shi, J. Holman, Tim Hubbard, Kristina Ibáñez, Robert W. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, Kay Lawson, S. E. A. Leigh, I. U. S. Leong, Javier Ferreiros, F. Maleady-Crowe, Joanne Mason, Ellen M. McDonagh, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Pter O’Donovan, Chris A. Odhams, Andrea Orioli, Christine Patch, Mariana Buongermino Pereira, D. Perez-Gil, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Augusto Rendon, Pablo Riesgo-Ferreiro, Tim Rogers, Mina Ryten, K. Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Damian Smedley, Katherine R. Smith, Samuel C. Smith, Alona Sosinsky, William Spooner, Helen E. Stevens, Alexander Stuckey, Răzvan Sultana, M. Tanguy, Ellen Thomas, Simon R. Thompson, Carolyn Tregidgo, Arianna Tucci, Emma Walsh, Sarah A. Watters, M. J. Welland, Eleanor Williams, Katarzyna Witkowska, S. M. Wood, Magdalena Zarowiecki

    Vydáno 2021
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  16. 16
    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 Autor 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

    Vydáno 2022
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  17. 17
    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 Autor 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

    Vydáno 2022
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  18. 18
    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 Autor 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

    Vydáno 2023
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  19. 19
    Human and mouse essentiality screens as a resource for disease gene discovery

    Human and mouse essentiality screens as a resource for disease gene discovery Autor 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

    Vydáno 2020
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