Showing 1 - 20 results of 22 for search 'Genomics England Research Consortium', query time: 0.66s
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A novel likely pathogenic CLCN5 variant in Dent’s disease by S Hayward, J Norton, L Bownass, C Platt, Genomics England Research Consortium, H Campbell, E Watson, N Forrester, S Smithson, A Menon
Published 2023-08-01
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Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci by Victor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, Genomics England Research Consortium, Frauke Coppieters, Miriam Bauwens, Andy Willaert, Elfride De Baere
Published 2024-02-01
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Validation of clinical‐grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly‐diagnosed multiple myeloma patients: A pilot study... by Oliver C. Lomas, Sarah Gooding, Maite Cabes, Helene Dreau, Edward Wilson, Paolo Polzella, Genomics England Research Consortium, Karthik Ramasamy, Angela D. Hamblin
Published 2021-11-01
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Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping by Prima Sanjaya, Katri Maljanen, Riku Katainen, Sebastian M. Waszak, Genomics England Research Consortium, Lauri A. Aaltonen, Oliver Stegle, Jan O. Korbel, Esa Pitkänen
Published 2023-07-01
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A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project) by Gary Leggatt, Guo Cheng, Sumit Narain, Luis Briseño-Roa, Jean-Philippe Annereau, The Genomics England Research Consortium, Christine Gast, Rodney D. Gilbert, Sarah Ennis
Published 2023-06-01
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FISH-negative BCR::ABL1-positive e19a2 chronic myeloid leukaemia: the most cryptic of insertions by Philippa C. May, Alistair G. Reid, Mark E. Robinson, Jamshid S. Khorashad, Dragana Milojkovic, Simone Claudiani, Genomics England Research Consortium, Fenella Willis, Jane F. Apperley, Andrew J. Innes
Published 2023-07-01
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Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation by Ragoussis, V, Pagnamenta, AT, Haines, RL, Giacopuzzi, E, McClatchey, MA, Sampson, JR, Suri, M, Gardham, A, Cobben, J-M, Osio, D, Fry, AE, Genomics England Research Consortium, Taylor, JC
Published 2021Journal article -
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Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans by Wei, W, Pagnamenta, AT, Gleadall, N, Sanchis-Juan, A, Stephens, J, Broxholme, J, Tuna, S, Odhams, CA, Genomics England Research Consortium, NIHR BioResource, Fratter, C, Turro, E, Caulfield, MJ, Taylor, JC, Rahman, S, Chinnery, PF
Published 2020Journal article -
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Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion by Nicholas Brennecke, Ignazio Cali, Tze How Mok, Helen Speedy, Genomics England Research Consortium, Laszlo L. P. Hosszu, Christiane Stehmann, Laura Cracco, Gianfranco Puoti, Thomas W. Prior, Mark L. Cohen, Steven J. Collins, Simon Mead, Brian S. Appleby
Published 2021-09-01
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Loss-of-Function Variants in <i>DRD1</i> in Infantile Parkinsonism-Dystonia by Kimberley M. Reid, Dora Steel, Sanjana Nair, Sanjay Bhate, Lorenzo Biassoni, Sniya Sudhakar, Michelle Heys, Elizabeth Burke, Erik-Jan Kamsteeg, Genomics England Research Consortium, Biju Hameed, Michael Zech, Niccolo E. Mencacci, Katy Barwick, Maya Topf, Manju A. Kurian
Published 2023-03-01
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Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort. by Dionysios Grigoriadis, Ege Sackey, Katie Riches, Malou van Zanten, Glen Brice, Ruth England, Mike Mills, Sara E Dobbins, Li Ling Lee, Lipoedema Consortium, Genomics England Research Consortium, Steve Jeffery, Liang Dong, David B Savage, Peter S Mortimer, Vaughan Keeley, Alan Pittman, Kristiana Gordon, Pia Ostergaard
Published 2022-01-01
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Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice by Pagnamenta, AT, Heemeryck, P, Martin, HC, Bosc, C, Peris, L, Uszynski, I, Gory-Fauré, S, Couly, S, Deshpande, C, Siddiqui, A, Elmonairy, AA, WGS500 Consortium, Genomics England Research Consortium, Jayawant, S, Murthy, S, Walker, I, Loong, L, Bauer, P, Vossier, F, Denarier, E, Maurice, T, Barbier, EL, Deloulme, J-C, Taylor, JC, Blair, EM, Andrieux, A, Moutin, M-J
Published 2019Journal article -
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GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements by Peter H. Dixon, Adam P. Levine, Inês Cebola, Melanie M. Y. Chan, Aliya S. Amin, Anshul Aich, Monika Mozere, Hannah Maude, Alice L. Mitchell, Jun Zhang, NIHR BioResource, Genomics England Research Consortium Collaborators, Jenny Chambers, Argyro Syngelaki, Jennifer Donnelly, Sharon Cooley, Michael Geary, Kypros Nicolaides, Malin Thorsell, William M. Hague, Maria Cecilia Estiu, Hanns-Ulrich Marschall, Daniel P. Gale, Catherine Williamson
Published 2022-08-01
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REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats by Egor Dolzhenko, Ben Weisburd, Kristina Ibañez, Indhu-Shree Rajan-Babu, Christine Anyansi, Mark F. Bennett, Kimberley Billingsley, Ashley Carroll, Samuel Clamons, Matt C. Danzi, Viraj Deshpande, Jinhui Ding, Sarah Fazal, Andreas Halman, Bharati Jadhav, Yunjiang Qiu, Phillip A. Richmond, Christopher T. Saunders, Konrad Scheffler, Joke J. F. A. van Vugt, Ramona R. A. J. Zwamborn, Genomics England Research Consortium, Samuel S. Chong, Jan M. Friedman, Arianna Tucci, Heidi L. Rehm, Michael A. Eberle
Published 2022-08-01
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Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease by Alfredo Dueñas Rey, Marta del Pozo Valero, Manon Bouckaert, Katherine A 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, Genomics England Research Consortium, Carlo Rivolta, Raymond T O’Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P Leroy, Elfride De Baere, Frauke Coppieters
Published 2024-01-01
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Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability by Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A deMoura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls
Published 2023-05-01
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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy by Park, J, Tucci, A, Cipriani, V, Demidov, G, Rocca, C, Senderek, J, Butryn, M, Velic, A, Lam, T, Galanaki, E, Cali, E, Vestito, L, Maroofian, R, Deininger, N, Rautenberg, M, Admard, J, Hahn, G-A, Bartels, C, van Os, NJH, Horvath, R, Chinnery, PF, Tiet, MY, Hewamadduma, C, Hadjivassiliou, M, Tofaris, GK, Genomics England Research Consortium, Wood, NW, Hayer, SN, Bender, F, Menden, B, Cordts, I, Klein, K, Nguyen, HP, Krauss, JK, Blahak, C, Strom, TM, Sturm, M, van de Warrenburg, B, Lerche, H, Maček, B, Synofzik, M, Ossowski, S, Timmann, D, Wolf, ME, Smedley, D, Riess, O, Schöls, L, Houlden, H, Haack, TB, Hengel, H
Published 2022Journal article -
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SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling by Lin, Y-C, Niceta, M, Muto, V, Vona, B, Pagnamenta, AT, Maroofian, R, Beetz, C, van Duyvenvoorde, H, Dentici, ML, Lauffer, P, Vallian, S, Ciolfi, A, Pizzi, S, Bauer, P, Grüning, N-M, Bellacchio, E, Del Fattore, A, Petrini, S, Shaheen, R, Tiosano, D, Halloun, R, Pode-Shakked, B, Albayrak, HM, Işık, E, Wit, JM, Dittrich, M, Freire, BL, Bertola, DR, Jorge, AAL, Barel, O, Sabir, AH, Al Tenaiji, AMJ, Taji, SM, Al-Sannaa, N, Al-Abdulwahed, H, Digilio, MC, Irving, M, Anikster, Y, Bhavani, GSL, Girisha, KM, Haaf, T, Taylor, JC, Dallapiccola, B, Alkuraya, FS, Yang, R-B, Tartaglia, M
Published 2020Other Authors: “…Genomics England Research Consortium…”
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