Hasil Pencarian - Genomics England Research Consortium

Perbaiki Hasil
  1. 1
    A retrospective analysis of phosphatase catalytic subunit gene variants in patients with rare disorders identifies novel candidate neurodevelopmental disease genes

    A retrospective analysis of phosphatase catalytic subunit gene variants in patients with rare disorders identifies novel candidate neurodevelopmental disease genes oleh Ekaterina Lyulcheva-Bennett, Genomics England Research Consortium, Daimark Bennett

    Diterbitkan 2023-03-01
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  2. 2
    Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

    Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project oleh Gabrielle Wheway, Hannah M. Mitchison, Genomics England Research Consortium

    Diterbitkan 2019-08-01
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  3. 3
    Application of ensemble clustering and survival tree analysis for identifying prognostic clinicogenomic features in patients with colorectal cancer from the 100,000 Genomes Project

    Application of ensemble clustering and survival tree analysis for identifying prognostic clinicogenomic features in patients with colorectal cancer from the 100,000 Genomes Project oleh Yuguo Wei, Nikolaos Papachristou, Stefanie Mueller, Genomics England Research Consortium, Wai Hoong Chang, Alvina G. Lai

    Diterbitkan 2021-10-01
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  4. 4
    Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome

    Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome oleh Joel T. Gibson, Omid Sadeghi-Alavijeh, Daniel P. Gale, Hansjörg Rothe, Genomics England Research Consortium, Judy Savige

    Diterbitkan 2022-07-01
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  5. 5
    De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies

    De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies oleh Nirmal Vadgama, Mohamed Ameen, Laksshman Sundaram, Sadhana Gaddam, Genomics England Research Consortium, Casey Gifford, Jamal Nasir, Ioannis Karakikes

    Diterbitkan 2022-11-01
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  6. 6
    Increased COVID-19 mortality rate in rare disease patients: a retrospective cohort study in participants of the Genomics England 100,000 Genomes project

    Increased COVID-19 mortality rate in rare disease patients: a retrospective cohort study in participants of the Genomics England 100,000 Genomes project oleh Huayu Zhang, Johan H. Thygesen, Ting Shi, Georgios V. Gkoutos, Harry Hemingway, Bruce Guthrie, Honghan Wu, Genomics England Research Consortium

    Diterbitkan 2022-04-01
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  7. 7
    A novel likely pathogenic CLCN5 variant in Dent’s disease

    A novel likely pathogenic CLCN5 variant in Dent’s disease oleh S Hayward, J Norton, L Bownass, C Platt, Genomics England Research Consortium, H Campbell, E Watson, N Forrester, S Smithson, A Menon

    Diterbitkan 2023-08-01
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  8. 8
    Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

    Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci oleh Victor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, Genomics England Research Consortium, Frauke Coppieters, Miriam Bauwens, Andy Willaert, Elfride De Baere

    Diterbitkan 2024-02-01
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  9. 9
    Author Correction: Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

    Author Correction: Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci oleh Victor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, Genomics England Research Consortium, Frauke Coppieters, Miriam Bauwens, Andy Willaert, Elfride De Baere

    Diterbitkan 2024-05-01
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  10. 10
    Validation of clinical‐grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly‐diagnosed multiple myeloma patients: A pilot study from the 100,000 Genomes Project

    Validation of clinical‐grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly‐diagnosed multiple myeloma patients: A pilot study... oleh Oliver C. Lomas, Sarah Gooding, Maite Cabes, Helene Dreau, Edward Wilson, Paolo Polzella, Genomics England Research Consortium, Karthik Ramasamy, Angela D. Hamblin

    Diterbitkan 2021-11-01
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  11. 11
    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 oleh Christine L. Jones, Andrea Degasperi, Vieri Grandi, Tauanne D. Amarante, Genomics England Research Consortium, Tracey J. Mitchell, Serena Nik-Zainal, Sean J. Whittaker

    Diterbitkan 2021-02-01
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  12. 12
    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 oleh Prima Sanjaya, Katri Maljanen, Riku Katainen, Sebastian M. Waszak, Genomics England Research Consortium, Lauri A. Aaltonen, Oliver Stegle, Jan O. Korbel, Esa Pitkänen

    Diterbitkan 2023-07-01
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  13. 13
    A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)

    A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project) oleh Gary Leggatt, Guo Cheng, Sumit Narain, Luis Briseño-Roa, Jean-Philippe Annereau, The Genomics England Research Consortium, Christine Gast, Rodney D. Gilbert, Sarah Ennis

    Diterbitkan 2023-06-01
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  14. 14
    Late diagnoses of Dravet syndrome: How many individuals are we missing?

    Late diagnoses of Dravet syndrome: How many individuals are we missing? oleh Katri Silvennoinen, Clinda Puvirajasinghe, Kirsty Hudgell, Meneka K. Sidhu, Helena Martins Custodio, Genomics England Research Consortium, Wendy D. Jones, Simona Balestrini, Sanjay M. Sisodiya

    Diterbitkan 2021-12-01
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  15. 15
    Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project

    Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project oleh Omayma Al-Saei, Samantha Malka, Nicholas Owen, Elbay Aliyev, Fazulur Rehaman Vempalli, Paulina Ocieczek, Bashayer Al-Khathlan, Genomics England Research Consortium, Khalid Fakhro, Mariya Moosajee

    Diterbitkan 2024-05-01
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  16. 16
    FISH-negative BCR::ABL1-positive e19a2 chronic myeloid leukaemia: the most cryptic of insertions

    FISH-negative BCR::ABL1-positive e19a2 chronic myeloid leukaemia: the most cryptic of insertions oleh 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

    Diterbitkan 2023-07-01
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  17. 17
    POS-421 KIDNEYNETWORK: A NEW METHOD TO PREDICT KIDNEY DISEASE GENES USING KIDNEY DERIVED GENE EXPRESSION DATA IDENTIFIES A NEW CANDIDATE GENE FOR MILD ADPKD / PCLD

    POS-421 KIDNEYNETWORK: A NEW METHOD TO PREDICT KIDNEY DISEASE GENES USING KIDNEY DERIVED GENE EXPRESSION DATA IDENTIFIES A NEW CANDIDATE GENE FOR MILD ADPKD / PCLD oleh F. Boulogne, L. CLAUS, H. Wiersma, F. Schukking, N. de Klein, S. Li, H.J. Westra, U.K. Genomics England Research Consortium, P. Deelen, N.V.A.M. Knoers, A.M. van Eerde, L. Franke

    Diterbitkan 2021-04-01
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  18. 18
    SARS-CoV-2 Susceptibility and ACE2 Gene Variations Within Diverse Ethnic Backgrounds

    SARS-CoV-2 Susceptibility and ACE2 Gene Variations Within Diverse Ethnic Backgrounds oleh Nirmal Vadgama, Nirmal Vadgama, Alexander Kreymerman, Alexander Kreymerman, Jackie Campbell, Olga Shamardina, Christiane Brugger, Genomics England Research Consortium, Alexandra M. Deaconescu, Richard T. Lee, Christopher J. Penkett, Casey A. Gifford, Mark Mercola, Jamal Nasir, Ioannis Karakikes

    Diterbitkan 2022-04-01
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  19. 19
    Whole genome sequencing in the diagnosis of primary ciliary dyskinesia

    Whole genome sequencing in the diagnosis of primary ciliary dyskinesia oleh Gabrielle Wheway, N. Simon Thomas, Mary Carroll, Janice Coles, Regan Doherty, Genomics England Research Consortium, Patricia Goggin, Ben Green, Amanda Harris, David Hunt, Claire L. Jackson, Jenny Lord, Vito Mennella, James Thompson, Woolf T. Walker, Jane S. Lucas

    Diterbitkan 2021-09-01
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  20. 20
    Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion

    Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion oleh 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

    Diterbitkan 2021-09-01
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