Works matching AU Arumugam, P.

Results: 70
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    Signature splitting in the positive parity bands of 127Xe.

    Published in:
    European Physical Journal A -- Hadrons & Nuclei, 2020, v. 56, n. 2, p. 1, doi. 10.1140/epja/s10050-020-00066-3
    By:
    • Chakraborty, S.;
    • Sharma, H. P.;
    • Tiwary, S. S.;
    • Majumder, C.;
    • Banerjee, P.;
    • Ganguly, S.;
    • Rai, S.;
    • Popli, Pragati;
    • Modi, Swati;
    • Arumugam, P.;
    • Singh, Mayank;
    • Kumar, S.;
    • Kumar, A.;
    • Bhattacharjee, S. S.;
    • Singh, R. P.;
    • Muralithar, S.;
    • Palit, R.
    Publication type:
    Article
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    Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32908-7
    By:
    • Macken, William L.;
    • Falabella, Micol;
    • McKittrick, Caroline;
    • Pizzamiglio, Chiara;
    • Ellmers, Rebecca;
    • Eggleton, Kelly;
    • Woodward, Cathy E.;
    • Patel, Yogen;
    • Labrum, Robyn;
    • Genomics England Research Consortium;
    • Ambrose, J. C.;
    • Arumugam, P.;
    • Bevers, R.;
    • Bleda, M.;
    • Boardman-Pretty, F.;
    • Boustred, C. R.;
    • Brittain, H.;
    • Brown, M. A.;
    • Caulfield, M. J.;
    • Chan, G. C.
    Publication type:
    Article
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    Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01204-4
    By:
    • Sanjaya, Prima;
    • Maljanen, Katri;
    • Katainen, Riku;
    • Waszak, Sebastian M.;
    • Ambrose, J. C.;
    • Arumugam, P.;
    • Bevers, R.;
    • Bleda, M.;
    • Boardman-Pretty, F.;
    • Boustred, C. R.;
    • Brittain, H.;
    • Brown, M. A.;
    • Caulfield, M. J.;
    • Chan, G. C.;
    • Giess, A.;
    • Griffin, J. N.;
    • Hamblin, A.;
    • Henderson, S.;
    • Hubbard, T. J. P.;
    • Jackson, R.
    Publication type:
    Article
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    MELAS syndrome presenting as an acute surgical abdomen.

    Published in:
    Annals of the Royal College of Surgeons of England, 2014, v. 96, n. 1, p. 1, doi. 10.1308/003588414X13824511649733
    By:
    • Dindyal, S.;
    • Mistry, K.;
    • Angamuthu, N.;
    • Smith, G.;
    • Hilton, D.;
    • Arumugam, P.;
    • Mathew, J.
    Publication type:
    Article
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    A novel likely pathogenic CLCN5 variant in Dent's disease.

    Published in:
    2023
    By:
    • Hayward, S;
    • Norton, J;
    • Bownass, L;
    • Platt, C;
    • Genomics England Research Consortium;
    • Ambrose, J. C.;
    • Arumugam, P;
    • Bevers, R.;
    • Bleda, M.;
    • Boardman-Pretty, F.;
    • Boustred, C. R.;
    • Brittain, H.;
    • Brown, M. A.;
    • Caulfield, M. J.;
    • Chan, G. C.;
    • Giess, A.;
    • Griffin, J. N.;
    • Hamblin, A.;
    • Henderson, S.;
    • Hubbard, T. J. P.
    Publication type:
    Case Study
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    The relationship between the gastric cancer microbiome and clinicopathological factors: a metagenomic investigation from the 100,000 genomes project and The Cancer Genome Atlas: Microbiome and clinicopathological factors...: ME. Booth et al.

    Published in:
    Gastric Cancer, 2025, v. 28, n. 3, p. 358, doi. 10.1007/s10120-025-01588-9
    By:
    • Booth, Mary E.;
    • Wood, Henry M.;
    • Travis, Mark A.;
    • Ambrose, J. C.;
    • Arumugam, p.;
    • Bevers, R.;
    • Bleda, M.;
    • Boardman-Pretty, F.;
    • Boustred, C. R.;
    • Brittain, H.;
    • Brown, M. A.;
    • Caulfield, M. J.;
    • Chan, G. C.;
    • Giess, A.;
    • Griffin, J. N.;
    • Hamblin, A.;
    • Henderson, S.;
    • Hubbard, T. J. P.;
    • Jackson, R.;
    • Jones, L. J.
    Publication type:
    Article
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    Diabetes Detection by Data Mining Methods.

    Published in:
    Wireless Personal Communications, 2023, v. 133, n. 4, p. 2087, doi. 10.1007/s11277-023-10809-2
    By:
    • Ambikavathi, V.;
    • Arumugam, P.;
    • Jose, P.
    Publication type:
    Article
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    Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project.

    Published in:
    Human Genetics, 2023, v. 142, n. 3, p. 351, doi. 10.1007/s00439-022-02509-x
    By:
    • Seaby, Eleanor G.;
    • Thomas, N. Simon;
    • Webb, Amy;
    • Brittain, Helen;
    • Taylor Tavares, Ana Lisa;
    • Genomics England Consortium;
    • Ambrose, J. C.;
    • Arumugam, P;
    • Bevers, R;
    • Bleda, M;
    • Boardman-Pretty, F;
    • Boustred, C. R.;
    • Brittain, H;
    • Caulfield, M. J.;
    • Chan, G. C.;
    • Fowler, T;
    • Giess, A;
    • Hamblin, A;
    • Henderson, S;
    • Hubbard, T. J. P.
    Publication type:
    Article
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    Late diagnoses of Dravet syndrome: How many individuals are we missing?

    Published in:
    Epilepsia Open, 2021, v. 6, n. 4, p. 770, doi. 10.1002/epi4.12525
    By:
    • Silvennoinen, Katri;
    • Puvirajasinghe, Clinda;
    • Hudgell, Kirsty;
    • Sidhu, Meneka K.;
    • Martins Custodio, Helena;
    • Jones, Wendy D.;
    • Balestrini, Simona;
    • Sisodiya, Sanjay M.;
    • Ambrose, J. C.;
    • Arumugam, P.;
    • Baple, E. L.;
    • Bleda, M.;
    • Boardman‐Pretty, F.;
    • Boissiere, J. M.;
    • Boustred, C. R.;
    • Caulfield, M. J.;
    • Chan, G. C.;
    • Craig, C. E. H.;
    • Daugherty, L. C.;
    • de Burca, A.
    Publication type:
    Article
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    Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00330-z
    By:
    • Jurkute, Neringa;
    • Cancellieri, Francesca;
    • Pohl, Lisa;
    • Li, Catherina H. Z.;
    • Heaton, Robert A.;
    • Reurink, Janine;
    • Bellingham, James;
    • Quinodoz, Mathieu;
    • Yioti, Georgia;
    • Stefaniotou, Maria;
    • Weener, Marianna;
    • Zuleger, Theresia;
    • Haack, Tobias B.;
    • Stingl, Katarina;
    • Genomics England Research Consortium;
    • Ambrose, J. C.;
    • Arumugam, P.;
    • Bevers, R.;
    • Bleda, M.;
    • Boardman-Pretty, F.
    Publication type:
    Article
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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).

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-32169-4
    By:
    • Leggatt, Gary;
    • Cheng, Guo;
    • Narain, Sumit;
    • Briseño-Roa, Luis;
    • Annereau, Jean-Philippe;
    • Ambrose, J. C.;
    • Arumugam, P.;
    • Bevers, R.;
    • Bleda, M.;
    • Boardman-Pretty, F.;
    • Boustred, C. R.;
    • Brittain, H.;
    • Brown, M. A.;
    • Caulfield, M. J.;
    • Chan, G. C.;
    • Giess, A.;
    • Griffin, J. N.;
    • Hamblin, A.;
    • Henderson, S.;
    • Hubbard, T. J. P.
    Publication type:
    Article
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    Application of ensemble clustering and survival tree analysis for identifying prognostic clinicogenomic features in patients with colorectal cancer from the 100,000 Genomes Project.

    Published in:
    BMC Research Notes, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13104-021-05789-0
    By:
    • Wei, Yuguo;
    • Papachristou, Nikolaos;
    • Mueller, Stefanie;
    • Genomics England Research Consortium;
    • Ambrose, J. C.;
    • Arumugam, P.;
    • Bleda, M.;
    • Boardman-Pretty, F.;
    • Boustred, C. R.;
    • Brittain, H.;
    • Caulfield, M. J.;
    • Chan, G. C.;
    • Fowler, T.;
    • Giess, A.;
    • Hamblin, A.;
    • Henderson, S.;
    • Hubbard, T. J. P.;
    • Jackson, R.;
    • Jones, L. J.;
    • Kasperaviciute, D.
    Publication type:
    Article