Risultati della ricerca - Jamie M. Ellingford

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    Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders di 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

    Pubblicazione 2021
    Testo Testo
    Artigo
  16. 16

    Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts di Alexandre Bélot, Gillian Rice, Ommar Omarjee, Quentin Rouchon, Eve Smith, Marion Moreews, Maud Tusseau, Cécile Frachette, Raphael Bournhonesque, Nicole M. Thielens, Christine Gaboriaud, Isabelle Rouvet, Emilie Chopin, Akihiro Hoshino, Sylvain Latour, Bruno Ranchin, Rolando Cimaz, Paula Romagnani, Christophe Malcus, Nicole Fabien, Marie-Nathalie Kolopp Sarda, Behrouz Kassaï, Jean‐Christophe Lega, Stéphane Decramer, Pauline Abou-Jaoudé, Ian N Bruce, Thomas Simonet, Claire Bardel, Pierre Antoine Rollat‐Farnier, Sébastien Viel, Héloïse Reumaux, James O’Sullivan, Thierry Walzer, Anne‐Laure Mathieu, Gaëlle Marenne, Thomas Ludwig, Emmanuelle Génin, Jamie M. Ellingford, Brigitte Bader-Meunier, Tracy A. Briggs, Michael W. Beresford, Yanick J. Crow, Dominique Campion, Jean‐François Dartigues, Jean‐François Deleuze, Emmanuelle Génin, Jean‐Charles Lambert, Richard Redon, Emma Allain-Launay, Brigitte Bader‐Meunier, Alexandre Bélot, Kenza Bouayed, Stéphane Burtey, Aurélia Carbasse, Stéphane Decramer, V. Despert, O. Fain, Michel Fischbach, Hugues Flodrops, Caroline Galeotti, Eric Hachulla, Yves Hatchuel, J.F. Kleinmann, Isabelle Koné‐Paut, Aurélia Lanteri, I. Lemelle, Hélène Maillard, François Maurier, Ulrich Meinzer, Isabelle Melki, S. Morell‐Dubois, Anne Pagnier, Maryam Piram, Bruno Ranchin, Héloïse Reumaux, Charlotte Samaille, Jean Sibilia, Olivia Weill, Eslam Al-Abadi, Kate Armon, Kathryn Bailey, Michael W. Beresford, Mary Brennan, Coziana Ciurtin, Janet Gardner‐Medwin, Kirsty Haslam, Daniel Hawley, Alice Leahy, Valentina Leone, Devesh Mewar, Rob Moots, Clarissa Pilkington, Athimalaipet V Ramanan, Satyapal Rangaraj, Annie Ratcliffe, Philip Riley, Ethan S. Sen, Arani Sridhar, Nick Wilkinson, Fiona Wood

    Pubblicazione 2020
    Testo Testo
    Artigo
  17. 17

    100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report di 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

    Pubblicazione 2021
    Testo Testo
    Artigo
  18. 18

    DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration di 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

    Pubblicazione 2020
    Testo Testo
    Artigo
  19. 19

    <i>De novo</i>variants in the non-coding spliceosomal snRNA gene<i>RNU4-2</i>are a frequent cause of syndromic neurodevelopmental disorders di Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N. D’Souza, Shan Dong, Jamie M. Ellingford, David R. Adams, Kirsten Allan, Madhura Bakshi, Erin E. Baldwin, Seth Berger, Jonathan A. Bernstein, Natasha J. Brown, Lindsay C. Burrage, Kimberly A. Chapman, Alison G. Compton, Chloe A Cunningham, Precilla D’Souza, Emmanuèle C. Délot, Kerith‐Rae Dias, Ellen Roy Elias, Carey‐Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L. Fraser, Lyndon Gallacher, Casie A. Genetti, Christina Grant, Tobias B. Haack, Alma Kuechler, Seema R. Lalani, Elsa Leitão, Anna Le Fevre, Richard J. Leventer, Jan Liebelt, Paul J. Lockhart, Alan Ma, Ellen F. Macnamara, T. Maurer, Rodrigo Mendez, Stephen B. Montgomery, Marie‐Cécile Nassogne, Serena Neumann, Melanie O’Leary, Elizabeth E. Palmer, John A. Phillips, Georgia Pitsava, Ryan Pysar, Heidi L. Rehm, Chloe M. Reuter, Nicole Revençu, Angelika Rieß, Rocío Rius, Lance H. Rodan, Tony Roscioli, Jill A. Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M. Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Tiong Yang Tan, Natalie B. Tan, Suzanna E.L. Temple, David R. Thorburn, Cynthia J. Tifft, Eloise Uebergang, Grace E. VanNoy, Éric Vilain, David Viskochil, Laura Wedd, Matthew T. Wheeler, Susan M. White, Monica H. Wojcik, Lynne A. Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L.R. Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M. Fica, Diana Baralle, Christel Depienne, Daniel G. MacArthur, Joanna M. M. Howson, Stephan Sanders, Anne O’Donnell‐Luria, Nicola Whiffin

    Pubblicazione 2024
    Testo Testo
    Pré-impressão
  20. 20

    De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome di Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L. Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M. Ellingford, Erwan Delage, Elston N. D’Souza, Shan Dong, David R. Adams, Kirsten Allan, Madhura Bakshi, Erin E. Baldwin, Seth Berger, Jonathan A. Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J. Brown, Lindsay C. Burrage, Kimberly A. Chapman, David Coman, Alison G. Compton, Chloe A Cunningham, Precilla D’Souza, Petr Danecek, Emmanuèle C. Délot, Kerith‐Rae Dias, Ellen Roy Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L. Fraser, Lyndon Gallacher, Casie A. Genetti, Anne Goriely, Christina Grant, Tobias B. Haack, Jenny Higgs, Anjali Gupta Hinch, Matthew E. Hurles, Alma Kuechler, Katherine Lachlan, Seema R. Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J. Leventer, Jan Liebelt, Sarah Lindsay, Paul J. Lockhart, Alan Ma, Ellen F. Macnamara, Sahar Mansour, T. Maurer, Rodrigo Mendez, Kay Metcalfe, Stephen B. Montgomery, Mariya Moosajee, Marie‐Cécile Nassogne, Serena Neumann, Michael O’Donoghue, Melanie O’Leary, Elizabeth E. Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L. Rehm, Chloe M. Reuter, Nicole Revençu, Angelika Rieß, Rocío Rius, Lance H. Rodan, Tony Roscioli, Jill A. Rosenfeld, Rani Sachdev, Charles Shaw‐Smith, Cas Simons, Sanjay M. Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen Stewart, Tiong Yang Tan, Natalie B. Tan, Suzanna E.L. Temple, David R. Thorburn, Cynthia J. Tifft, Eloise Uebergang, Grace E. VanNoy, Pradeep Vasudevan, Éric Vilain, David Viskochil

    Pubblicazione 2024
    Testo
    Artigo