Risultati della ricerca - Jamie M. Ellingford
- Mostra 1 - 20 risultati su 20
-
1
-
2
A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer di D. Gareth Evans, Elke M. van Veen, Helen Byers, Andrew Wallace, Jamie M. Ellingford, Glenda M. Beaman, Javier Santoyo‐López, Timothy J. Aitman, Diana Eccles, Fiona Lalloo, Miriam J. Smith, William G. Newman
Pubblicazione 2018Artigo -
3
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases di Jamie M. Ellingford, Bradley Horn, Christopher Campbell, Gavin Arno, Stephanie Barton, Catriona Tate, Sanjeev S. Bhaskar, Panagiotis I. Sergouniotis, Rachel L. Taylor, Keren Carss, Lucy F. Raymond, Michel Michaelides, Simon Ramsden, Andrew R. Webster, Graeme Black
Pubblicazione 2017Artigo -
4
Validation of copy number variation analysis for next-generation sequencing diagnostics di Jamie M. Ellingford, Christopher Campbell, Stephanie Barton, Sanjeev S. Bhaskar, Saurabh Gupta, Rachel L. Taylor, Panagiotis I. Sergouniotis, Bradley Horn, Janine A. Lamb, Michel Michaelides, Andrew R. Webster, William G. Newman, Binay Panda, Simon Ramsden, Graeme Black
Pubblicazione 2017Artigo -
5
Molecular findings from 537 individuals with inherited retinal disease di Jamie M. Ellingford, Stephanie Barton, Sanjeev S. Bhaskar, James O’Sullivan, Simon G. Williams, Janine A. Lamb, Binay Panda, Panagiotis I. Sergouniotis, Rachel Gillespie, Stephen P. Daiger, Georgina Hall, Theodora Gale, I. Christopher Lloyd, Paul N. Bishop, Simon Ramsden, Graeme Black
Pubblicazione 2016Artigo -
6
Clinical and genetic variability in children with partial albinism di Patrick Campbell, Jamie M. Ellingford, Neil R. A. Parry, Tracy Fletcher, Simon Ramsden, Theodora Gale, Georgina Hall, Katherine R. Smith, Dalia Kasperavičiūtė, Ellen Thomas, Iva Lloyd, Sofia Douzgou, Jill Clayton‐Smith, Susmito Biswas, Jane Ashworth, Graeme Black, Panagiotis I. Sergouniotis
Pubblicazione 2019Artigo -
7
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders di Eva Lenassi, Jill Clayton‐Smith, Sofia Douzgou, Simon Ramsden, Stuart Ingram, Georgina Hall, Claire Hardcastle, Tracy Fletcher, Rachel L. Taylor, Jamie M. Ellingford, William D. Newman, Cecilia Fenerty, Vinod Sharma, Iva Lloyd, Susmito Biswas, Jane Ashworth, Graeme Black, Panagiotis I. Sergouniotis
Pubblicazione 2019Artigo -
8
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease di Jamie M. Ellingford, Stephanie Barton, Sanjeev S. Bhaskar, Simon G. Williams, Panagiotis I. Sergouniotis, James O’Sullivan, Janine A. Lamb, Rahat Perveen, Georgina Hall, William G. Newman, Paul N. Bishop, Stephen A. Roberts, Rick Leach, Rick Tearle, S. C. Bayliss, Simon Ramsden, Andrea H. Németh, Graeme Black
Pubblicazione 2016Artigo -
9
A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations di Ranjay Jayadev, Mychel Morais, Jamie M. Ellingford, Sandhya Srinivasan, Richard W. Naylor, Craig Lawless, Anna S Li, Jack Ingham, Eric Hastie, Qiuyi Chi, Maryline Fresquet, Nikki-Maria Koudis, Huw B. Thomas, Raymond T. O’Keefe, E. G. Williams, Antony Adamson, Helen M. Stuart, Siddharth Banka, Damian Smedley, David R. Sherwood, Rachel Lennon
Pubblicazione 2022Artigo -
10
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies di Malena Daich Varela, James Bellingham, Fabiana Louise Motta, Neringa Jurkutė, Jamie M. Ellingford, Mathieu Quinodoz, Kathryn Oprych, Michael Niblock, Lucas Janeschitz‐Kriegl, Karolina Kamińska, Francesca Cancellieri, Hendrik P. N. Scholl, Eva Lenassi, Elena Schiff, Hannah Knight, Graeme Black, Carlo Rivolta, Michael E. Cheetham, Michel Michaelides, Omar A. Mahroo, Anthony T. Moore, Andrew R. Webster, Gavin Arno
Pubblicazione 2022Artigo -
11
Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease di Alfredo Dueñas Rey, Marta Del Pozo‐Valero, Manon Bouckaert, K Wood, Filip Van den Broeck, Malena Daich Varela, Huw B. Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, Carlo Rivolta, Raymond T. O’Keefe, Jamie M. Ellingford, Andrew R. Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P. Leroy, Elfride De Baere, Frauke Coppieters
Pubblicazione 2024Artigo -
12
Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease di Alexandra C Martin-Geary, Alexander J. M. Blakes, Ruebena Dawes, Scott D. Findlay, Jenny Lord, Shan Dong, Susan Walker, Jonathan Talbot-Martin, Nechama Wieder, Elston N. D’Souza, Maria Fernandes, Sarah K. Hilton, Nayana Lahiri, Christopher Campbell, Sarah Jenkinson, Christian G E L DeGoede, Emily E. Anderson, Toby Candler, Helen V. Firth, Christopher B. Burge, Stephan Sanders, Jamie M. Ellingford, Diana Baralle, Siddharth Banka, Nicola Whiffin
Pubblicazione 2025Artigo -
13
Loss-of-function variants in myocardin cause congenital megabladder in humans and mice di Arjan C. Houweling, Glenda M. Beaman, Alex V. Postma, T. Blair Gainous, Klaske D. Lichtenbelt, Francesco Brancati, Filipa Lopes, Ingeborg van der Made, Abeltje M. Polstra, Michael L. Robinson, Kevin Wright, Jamie M. Ellingford, Ashley R. Jackson, Eline Overwater, Rita Genesio, Silvio Romano, Letizia Camerota, Emanuela D’Angelo, E. J. Meijers-Heijboer, Vincent M. Christoffels, Kirk M. McHugh, Brian L. Black, William G. Newman, Adrian S. Woolf, Esther E. Creemers
Pubblicazione 2019Artigo -
14
Recommendations for clinical interpretation of variants found in non-coding regions of the genome di Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, C. Ryan Campbell, Kate Downes, Sian Ellard, Celia Duff‐Farrier, David Fitzpatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, William G. Newman, Anne O’Donnell‐Luria, Simon Ramsden, Heidi L. Rehm, Ebony Richardson, Moriel Singer‐Berk, Jenny C. Taylor, Maggie Williams, Jordan C. Wood, Caroline F. Wright, Steven M. Harrison, Nicola Whiffin
Pubblicazione 2022Carta -
15
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 2021Artigo -
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 2020Artigo -
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 2021Artigo -
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 2020Artigo -
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 2024Pré-impressão -
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 2024Artigo
Strumenti per la ricerca:
Soggetti correlati
Biology
Genetics
Gene
Medicine
Computational biology
Genome
Bioinformatics
Disease
Pathology
Internal medicine
Phenotype
RNA
Genetic testing
Mutation
Ophthalmology
Proband
Cohort
DNA sequencing
Genomics
Mendelian inheritance
Neuroscience
RNA splicing
Retinal
Cancer
Computer science
Context (archaeology)
Copy-number variation
Economics
Gene expression
Genotype