Ohcanbohtosat - Marta Bleda

Aiddostahte ozu
  1. 1
    Babelomics 5.0: functional interpretation for new generations of genomic data

    Babelomics 5.0: functional interpretation for new generations of genomic data Dahkki Roberto Alonso, Francisco Salavert, Francisco García‐García, José Carbonell‐Caballero, Marta Bleda, Luz García‐Alonso, Alba Sanchis‐Juan, D. Perez-Gil, Pablo Marín-García, Rubén Sánchez, Cankut Çubuk, Marta R. Hidalgo, Alicia Amadoz, Rosa Hernansaiz-Ballesteros, Alejandro Alemán, Joaquín Tárraga, David Montaner, Ignacio Medina, Joaquı́n Dopazo

    Almmustuhtton 2015
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  2. 2
    Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial Hypertension

    Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial Hypertension Dahkki Christopher J. Rhodes, Pavandeep Ghataorhe, John Wharton, Kévin Rue-Albrecht, Charaka Hadinnapola, G.K. Watson, Marta Bleda, Matthias Haimel, Gerry Coghlan, Paul A. Corris, Luke Howard, David G. Kiely, Andrew J. Peacock, Joanna Pepke‐Żaba, Mark Toshner, Stephen J. Wort, J. Simon R. Gibbs, Allan Lawrie, Stefan Gräf, Nicholas W. Morrell, Martin R. Wilkins

    Almmustuhtton 2016
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  3. 3
    267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation

    267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation Dahkki Joaquı́n Dopazo, Alicia Amadoz, Marta Bleda, Luz García‐Alonso, Alejandro Alemán, Francisco García‐García, Juan Antonio Rodríguez, Joséphine T. Daub, Gerard Muntané, Antonio Rueda, Alicia Vela‐Boza, Francisco J. López-Domingo, Javier Pérez-Florido, Pablo Arce, Macarena Ruiz‐Ferrer, Cristina Méndez‐Vidal, Todd E. Arnold, Olivia Spleiss, Miguel Álvarez-Tejado, Arcadi Navarro, Shomi S. Bhattacharya, Salud Borrego, Javier Santoyo‐López, Guillermo Antiñolo

    Almmustuhtton 2016
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  4. 4
    The ADAMTS13–VWF axis is dysregulated in chronic thromboembolic pulmonary hypertension

    The ADAMTS13–VWF axis is dysregulated in chronic thromboembolic pulmonary hypertension Dahkki Michael Newnham, Kieron South, Marta Bleda, William R. Auger, Joan Albert Barberà, Harm Jan Bogaard, Katherine Bunclark, John Cannon, Marion Delcroix, Charaka Hadinnapola, Luke Howard, David P. Jenkins, Eckhard Mayer, Choo Ng, Christopher J. Rhodes, Nicholas Screaton, Karen Sheares, Michael A. Simpson, Mark Southwood, Li Su, Dolores Taboada, Matthew Traylor, Richard C. Trembath, Sofía S. Villar, Martin R. Wilkins, John Wharton, Stefan Gräf, Joanna Pepke‐Żaba, Michael Laffan, David A. Lane, Nicholas W. Morrell, Mark Toshner

    Almmustuhtton 2019
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  5. 5
    Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

    Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes Dahkki Hongsheng Gui, Duco Schriemer, William Cheng, Rajendra Chauhan, Guillermo Antiñolo, Courtney Berrios, Marta Bleda, Alice S. Brooks, Rutger W. W. Brouwer, Alan J. Burns, Stacey S. Cherny, Joaquı́n Dopazo, Bart J. L. Eggen, Paola Griseri, Binta Jalloh, Thuy-Linh Le, Vincent Chi Hang Lui, Berta Luzón‐Toro, Ivana Matera, Esw Ngan, Anna Pelet, Macarena Ruiz‐Ferrer, Pak C. Sham, Iain T. Shepherd, Man-Ting So, Yunia Sribudiani, Clara Sze-Man Tang, Mirjam C. G. N. van den Hout, Herma C. van der Linde, Tjakko J. van Ham, Wilfred F. J. van IJcken, Joanne Verheij, Jeanne Amiel, Salud Borrego, Isabella Ceccherini, Aravinda Chakravarti, Stanislas Lyonnet, Paul Kwong Hang Tam, Maria‐Mercè Garcia‐Barceló, Robert M.W. Hofstra

    Almmustuhtton 2017
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  6. 6
    Loss-of-Function <i>ABCC8</i> Mutations in Pulmonary Arterial Hypertension

    Loss-of-Function <i>ABCC8</i> Mutations in Pulmonary Arterial Hypertension Dahkki Michael S. Bohnen, Lijiang Ma, Na Zhu, Hongjian Qi, Conor McClenaghan, Claudia Gonzaga‐Jauregui, Frederick E. Dewey, John D. Overton, Jeffrey G. Reid, Alan R. Shuldiner, Aris Baras, Kevin J. Sampson, Marta Bleda, Charaka Hadinnapola, Matthias Haimel, Harm Jan Bogaard, Colin Church, Gerry Coghlan, Paul A. Corris, Mélanie Eyries, J. Simon R. Gibbs, Barbara Girerd, Arjan C. Houweling, Marc Humbert, Christophe Guignabert, David G. Kiely, Allan Lawrie, Rob V. Mackenzie Ross, Jennifer M. Martin, David Montani, Andrew J. Peacock, Joanna Pepke‐Żaba, Florent Soubrier, Jay Suntharalingam, Mark Toshner, Carmen Treacy, Richard C. Trembath, Anton Vonk Noordegraaf, John Wharton, Martin R. Wilkins, Stephen J. Wort, Katherine Yates, Stefan Gräf, Nicholas W. Morrell, Usha Krishnan, Erika B. Rosenzweig, Yufeng Shen, Colin G. Nichols, Robert S. Kass, Wendy K. Chung

    Almmustuhtton 2018
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  7. 7
    Age and Sex Differences in the Genetics of Cardiomyopathy

    Age and Sex Differences in the Genetics of Cardiomyopathy Dahkki 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

    Almmustuhtton 2023
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  8. 8
    Characterization of <i>GDF2</i> Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension

    Characterization of <i>GDF2</i> Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension Dahkki Joshua Hodgson, Emilia M. Swietlik, Richard M. Salmon, Charaka Hadinnapola, Ivana Nikolić, John Wharton, Jingxu Guo, James Liley, Matthias Haimel, Marta Bleda, Laura Southgate, Rajiv D. Machado, Jennifer M. Martin, Carmen Treacy, Katherine Yates, Louise C. Daugherty, Olga Shamardina, Deborah Whitehorn, Simon Holden, Harm Jan Bogaard, Colin Church, Gerry Coghlan, Robin Condliffe, Paul A. Corris, Cesare Danesino, Mélanie Eyries, Henning Gall, Stefano Ghio, Hossein Ardeschir Ghofrani, J. Simon R. Gibbs, Barbara Girerd, Arjan C. Houweling, Luke Howard, Marc Humbert, David G. Kiely, Gábor Kovács, Allan Lawrie, Robert V. MacKenzie Ross, Shahin Moledina, David Montani, Andrea Olschewski, Horst Olschewski, Willem H. Ouwehand, Andrew J. Peacock, Joanna Pepke‐Żaba, Inga Prokopenko, Christopher J. Rhodes, Laura Scelsi, Werner Seeger, Florent Soubrier, Jay Suntharalingam, Mark Toshner, Richard C. Trembath, Anton Vonk Noordegraaf, Stephen J. Wort, Martin R. Wilkins, Paul B. Yu, Wei Li, Stefan Gräf, Paul D. Upton, Nicholas W. Morrell

    Almmustuhtton 2019
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  9. 9
    Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update

    Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update Dahkki 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

    Almmustuhtton 2022
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  10. 10
    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 Dahkki 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

    Almmustuhtton 2023
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  11. 11
    Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

    Identification of rare sequence variation underlying heritable pulmonary arterial hypertension Dahkki Stefan Gräf, Matthias Haimel, Marta Bleda, Charaka Hadinnapola, Laura Southgate, Wei Li, Joshua Hodgson, Bin Liu, Richard M. Salmon, Mark Southwood, Rajiv D. Machado, Jennifer M. Martin, Carmen Treacy, Katherine Yates, Louise C. Daugherty, Olga Shamardina, Deborah Whitehorn, Simon Holden, Micheala A. Aldred, Harm Jan Bogaard, Colin Church, Gerry Coghlan, Robin Condliffe, Paul A. Corris, Cesare Danesino, Mélanie Eyries, Henning Gall, Stefano Ghio, Hossein Ardeschir Ghofrani, J. Simon R. Gibbs, Barbara Girerd, Arjan C. Houweling, Luke Howard, Marc Humbert, David G. Kiely, Gábor Kovács, Robert V. MacKenzie Ross, Shahin Moledina, David Montani, Michael Newnham, Andrea Olschewski, Horst Olschewski, Andrew J. Peacock, Joanna Pepke‐Żaba, Inga Prokopenko, Christopher J. Rhodes, Laura Scelsi, Werner Seeger, Florent Soubrier, Dan F. Stein, Jay Suntharalingam, Emilia M. Swietlik, Mark Toshner, David A. van Heel, Anton Vonk Noordegraaf, Quinten Waisfisz, John Wharton, Stephen J. Wort, Willem H. Ouwehand, Nicole Soranzo, Allan Lawrie, Paul D. Upton, Martin R. Wilkins, Richard C. Trembath, Nicholas W. Morrell

    Almmustuhtton 2018
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  12. 12
    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 Dahkki 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

    Almmustuhtton 2022
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  13. 13
    Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis

    Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis Dahkki 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

    Almmustuhtton 2022
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  14. 14
    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 Dahkki 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

    Almmustuhtton 2023
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  15. 15
    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 Dahkki 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

    Almmustuhtton 2021
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  16. 16
    Substitution mutational signatures in whole-genome–sequenced cancers in the UK population

    Substitution mutational signatures in whole-genome–sequenced cancers in the UK population Dahkki 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

    Almmustuhtton 2022
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  17. 17
    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 Dahkki 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

    Almmustuhtton 2022
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  18. 18
    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 Dahkki 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

    Almmustuhtton 2023
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  19. 19
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