نتائج البحث - F. Boardman-Pretty

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  1. 1
    Identification and validation of a novel pathogenic variant in <scp><i>GDF2</i></scp> (<scp>BMP9</scp>) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

    Identification and validation of a novel pathogenic variant in <scp><i>GDF2</i></scp> (<scp>BMP9</scp>) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriov... حسب Srimmitha Balachandar, Tamara Graves, Anika Shimonty, Katie Kerr, Jill Kilner, Sihao Xiao, Richard Slade, Manveer Sroya, Mary Alikian, Emanuel Curetean, Ellen Thomas, Vivienne McConnell, Shane McKee, F. Boardman-Pretty, A. Devereau, Tom Fowler, Mark J. Caulfield, Eric W.F.W. Alton, Teena Ferguson, Julian Redhead, Amy Jayne McKnight, Geraldine Thomas, Micheala A. Aldred, Claire L. Shovlin

    منشور في 2021
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    Artigo
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  2. 2
    SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

    SMAD6 variants in craniosynostosis: genotype and phenotype evaluation حسب Eduardo Calpena, Araceli Cuellar, Krithi Bala, Sigrid M.A. Swagemakers, Nils Koelling, Simon J. McGowan, Julie Phipps, Meena Balasubramanian, Michael L. Cunningham, Sofia Douzgou, Wanda Lattanzi, Jenny E.V. Morton, Deborah Shears, Astrid Weber, Louise C. Wilson, Helen Lord, Tracy Lester, David Johnson, Steven A. Wall, Stephen R.F. Twigg, Irene M.J. Mathijssen, F. Boardman-Pretty, Simeon A. Boyadjiev, Andrew O.M. Wilkie

    منشور في 2020
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    Artigo
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  3. 3
    Age and Sex Differences in the Genetics of Cardiomyopathy

    Age and Sex Differences in the Genetics of Cardiomyopathy حسب Oyediran Akinrinade, Robert Lesurf, J. C. Ambrose, Prabhu Arumugam, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, M. J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, A. Hamblin, Shirley Henderson, Tim Hubbard, R. Jackson, L. J. Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, I. U. S. Leong, Fabrice Lopez, F. Maleady-Crowe, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, S. C. Smith, A. Sosinsky, Alexander Stuckey, M. Tanguy, Elaine Thomas, Simon R. Thompson, Arianna Tucci, Edward E. Walsh, M. J. Welland, Eleanor Williams, Katarzyna Witkowska, S. M. Wood, Jane Lougheed, Tapas Mondal, John Smythe, Luis Altamirano‐Diaz, Erwin Oechslin, Seema Mital

    منشور في 2023
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  4. 4
    Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update

    Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update حسب Anthony McGuigan, James Whitworth, Avgi Andreou, Timothy J. Hearn, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, S. A. Henderson, Tim Hubbard, Rachel Jackson, Lesley Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, Ivone Leong, F. J. Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, M. Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Christopher A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Sophie Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, Katarzyna Witkowska, Scott Wood, Marc Tischkowitz, Eamonn R. Maher

    منشور في 2022
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    Revisão
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  5. 5
    Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease

    Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease حسب Omid Sadeghi‐Alavijeh, Melanie Chan, Shabbir H. Moochhala, Sarah Howles, Daniel P. Gale, Detlef Böckenhauer, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Bingyang Shi, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, I. U. S. Leong, Javier F. Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, D. Perez-Gil, J. Pullinger, T. Rahim, Augusto Rendon, Tim Rogers, K. Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, Katarzyna Witkowska, S. M. Wood

    منشور في 2023
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  6. 6
    The relationship between the gastric cancer microbiome and clinicopathological factors: a metagenomic investigation from the 100,000 genomes project and The Cancer Genome Atlas

    The relationship between the gastric cancer microbiome and clinicopathological factors: a metagenomic investigation from the 100,000 genomes project and The Cancer Genome Atlas حسب Mary E. Booth, Henry M. Wood, Mark A. Travis, J. C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C. R. Boustred, H. Brittain, Melissa A. Brown, M. J. Caulfield, Gcf Chan, A. Giess, John N. Griffin, Angela Hamblin, Shirley Henderson, Tim Hubbard, Rachel Jackson, Lesley Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, A. Lakey, S. E. A. Leigh, Ivone Leong, F. J. Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Jonathan Mitchell, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, A. C. Need, Peter O’Donovan, Christopher A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, A. Siddiq, A. Sieghart, Sean Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Elaine Thomas, S. R. Thompson, Arianna Tucci, M. J. Welland, E. Williams, Katarzyna Witkowska, Scott Wood, Magdalena Zarowiecki, Philip Quirke, Heike I. Grabsch

    منشور في 2025
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  7. 7
    The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer

    The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer حسب Jamie Trotman, Ruth Armstrong, Helen V. Firth, Claire Trayers, James Watkins, Kieren Allinson, Thomas S. Jacques, James C. Nicholson, G.A. Amos Burke, John C. Ambrose, P. Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim Hubbard, R. Jackson, J. Louise Jones, D. Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, I. U. S. Leong, F. J. Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, Ashley Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Elaine Thomas, S. R. Thompson, Arianna Tucci, M. J. Welland, Elena Williams, Katarzyna Witkowska, S. M. Wood, Sam Behjati, Matthew J. Murray, C. Elizabeth Hook, Patrick Tarpey

    منشور في 2022
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  8. 8
    Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis

    Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis حسب Amelia Shoemark, Helen Griffin, Gabrielle Wheway, Claire Hogg, Jane S. Lucas, Carlos Camps, Jenny C. Taylor, Mary Carroll, Michael R. Loebinger, James D. Chalmers, Deborah Morris‐Rosendahl, Hannah M. Mitchison, Anthony De Soyza, David E. Brown, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim Hubbard, Richard V. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, Ivone Leong, Fabrice Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Marcus Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Álvaro Rendón, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, A. Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Elyse T. Williams, Katarzyna Witkowska, S. M. Wood

    منشور في 2022
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  9. 9
    Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping

    Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping حسب Prima Sanjaya, Katri Maljanen, Riku Katainen, Sebastian M. Waszak, John C. Ambrose, P. Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Matthew A. Brown, Mark J. Caulfield, G. C. Chan, Adam Giess, John N. Griffin, Angela Hamblin, Shirley Henderson, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, A. Lakey, S. E. A. Leigh, I. U. S. Leong, F. Joel Leong, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, J. Mitchell, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Mónica Pérez‐Gil, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, Afshan Siddiq, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, Katarzyna Witkowska, S. M. Wood, Magdalena Zarowiecki, Lauri A. Aaltonen, Oliver Stegle, Jan O. Korbel, Esa Pitkänen

    منشور في 2023
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  10. 10
    Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

    Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders حسب Charlie F Rowlands, Huw B. Thomas, Jenny Lord, Htoo A. Wai, Gavin Arno, Glenda M. Beaman, Panagiotis I. Sergouniotis, Beatriz Gomes-Silva, Christopher Campbell, Nicole Gossan, Claire Hardcastle, Kevin Webb, Christopher O’Callaghan, Robert A. Hirst, Simon Ramsden, Elizabeth A. Jones, Jill Clayton‐Smith, Andrew R. Webster, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, I. U. S. Leong, Fabrice Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Christopher A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, A. Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, K. Witkowsa, S. M. Wood, Andrew G. L. Douglas, Raymond T. O’Keefe, William G. Newman, Diana Baralle, Graeme Black, Jamie M. Ellingford

    منشور في 2021
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  11. 11
    Substitution mutational signatures in whole-genome–sequenced cancers in the UK population

    Substitution mutational signatures in whole-genome–sequenced cancers in the UK population حسب Andrea Degasperi, Xueqing Zou, Tauanne Dias Amarante, Andrea Martinez-Martinez, Ching Chiek Koh, João M.L. Dias, Laura Heskin, Lucia Chmelova, Giuseppe Rinaldi, Valerie Ya Wen Wang, Arjun S. Nanda, Aaron Bernstein, Sophie Momen, Jamie Young, D. Perez-Gil, Yasin Memari, Cherif Badja, Scott Shooter, Jan Czarnecki, Matthew A. Brown, Helen Davies, Serena Nik‐Zainal, John C. Ambrose, P. Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, M. J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, Stephen Henderson, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, Ivone Leong, F. J. Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Sean Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Elaine Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Elena Williams, Katarzyna Witkowska, Scott Wood

    منشور في 2022
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  12. 12
    An intermediate-effect size variant in <i>UMOD</i> confers risk for chronic kidney disease

    An intermediate-effect size variant in <i>UMOD</i> confers risk for chronic kidney disease حسب Eric Olinger, Céline Schaeffer, Kendrah Kidd, Elhussein A. Elhassan, Yurong Cheng, Inès Dufour, Guglielmo Schiano, Holly Mabillard, Elena Pasqualetto, Patrick Hofmann, Daniel G. Fuster, Andreas D. Kistler, Ian Wilson, Stanislav Kmoch, Laure Raymond, Thomas Robert, Kai‐Uwe Eckardt, Anthony J. Bleyer, Anna Köttgen, Peter J. Conlon, Michael S. Wiesener, John A. Sayer, Luca Rampoldi, Olivier Devuyst, John C. Ambrose, Paramasivam Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Myles Brown, Mark J. Caulfield, G. C. Chan, Adam Giess, John N. Griffin, Angela Hamblin, Steve Henderson, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, A. Lakey, S. E. A. Leigh, I. U. S. Leong, Fabrice Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, J. Mitchell, Loukas Moutsianas, Marcus Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Miguel Basto-Pereira, J. Pullinger, T. Rahim, Álvaro Rendón, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, A. Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Erik A. Williams, Katarzyna Witkowska, S. M. Wood, Magdalena Zarowiecki

    منشور في 2022
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  13. 13
    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 حسب 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

    منشور في 2023
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  14. 14
    Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition

    Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition حسب Helena Martins Custodio, Lisa M. Clayton, Ravishankara Bellampalli, Susanna Pagni, Katri Silvennoinen, Richard Caswell, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Matthew A. Brown, Mark J. Caulfield, Georgia C Chan, Adam Giess, John N. Griffin, Angela Hamblin, Shirley Henderson, Tim J P Hubbard, Robert B. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, Anna Lakey, Sarah E A Leigh, Ivonne U S Leong, Javier F Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Jonathan Mitchell, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A Odhams, Christine Patch, D. Perez-Gil, Marina B Pereira, J. Pullinger, T. Rahim, Augusto Rendon, Tim Rogers, K. Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen R A Thomas, Simon R. Thompson, Arianna Tucci, Matthew J Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M Wood, Magdalena Zarowiecki, Andreas Brunklaus, Renzo Guerrini, Bobby P.C. Koeleman, Johannes R. Lemke, Rikke S. Møller, Ingrid E. Scheffer, Sarah Weckhuysen, Federico Zara, Sameer M. Zuberi, Karoline Kuchenbaecker, Simona Balestrini, James D. Mills, Sanjay M. Sisodiya

    منشور في 2023
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  15. 15
    Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

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

    منشور في 2020
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  16. 16
    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 حسب 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

    منشور في 2021
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    Revisão
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  17. 17
    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 حسب 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

    منشور في 2020
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    Artigo
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  18. 18
    Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

    Signatures of TOP1 transcription-associated mutagenesis in cancer and germline حسب Martin A.M. Reijns, David Parry, Thomas Williams, Ferran Nadeu, Rebecca L. Hindshaw, Diana O. Rios Szwed, Michael D. Nicholson, Paula Carroll, Shelagh Boyle, Romina Royo, Alex J. Cornish, Xiang Hang, Kate Ridout, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, I. U. S. Leong, Javier Ferreiros, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, D. Perez-Gil, J. Pullinger, T. Rahim, Augusto Rendon, Tim Rogers, K. Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, Katarzyna Witkowska, S. M. Wood, Daniel Chubb, Alex J. Cornish, Ben Kinnersley, Richard S. Houlston, David C. Wedge, Andreas Gruber, Anna Frangou, William Cross, Trevor A. Graham, Andrea Sottoriva, Giulio Caravagna, Núria López-Bigas, Claudia Arnedo-Pac, David N. Church, Richard Culliford, S. Thorn, Philip Quirke, Henry M. Wood, Ian Tomlinson, Boris Noyvert, Anna Schuh, Konrad Aden, Claire Palles, Elı́as Campo, Tatjana Stanković, Martin S. Taylor, Andrew P. Jackson

    منشور في 2022
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    Artigo
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  19. 19
    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 حسب 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

    منشور في 2022
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    Artigo
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  20. 20
    Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features

    Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features حسب Pauline Robbe, Kate Ridout, Dimitrios V. Vavoulis, Hélène Dreau, Ben Kinnersley, Nicholas Denny, Daniel Chubb, Niamh Appleby, Anthony Cutts, Alex J. Cornish, Laura Lopez-Pascua, Ruth Clifford, Adam Burns, Basile Stamatopoulos, Maité Cabes, Reem Alsolami, Pavlos Antoniou, Melanie Oates, Doriane Cavalieri, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Matthew A. Brown, M. J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, I. U. S. Leong, F. J. Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Sean Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, Katarzyna Witkowska, Scott Wood, James M. Allan, Garry Bisshopp, Stuart J. Blakemore, Jacqueline Boultwood, David Bruce, Francesca M. Buffa, Andrea G.S. Buggins, Gerald M. Cohen, Kate Cwynarski, Claire Dearden, Richard Dillon, Sarah Ennis, Francesco Falciani, George Follows, Francesco Forconi, Jade Forster, Christopher P. Fox, John G. Gribben, Anna Hockaday, Dena Howard, Andrew Jackson, Nagesh Kalakonda, Umair Khan, Philip Law

    منشور في 2022
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    Artigo
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