Works by Arumugam, P.


Results: 69
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    Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome.

    Published in:
    Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-06525-9
    By:
    • Gibson, Joel T.;
    • Huang, Mary;
    • Shenelli Croos Dabrera, Marina;
    • Shukla, Krushnam;
    • Rothe, Hansjörg;
    • Hilbert, Pascale;
    • Deltas, Constantinos;
    • Storey, Helen;
    • Lipska-Ziętkiewicz, Beata S.;
    • Chan, Melanie M. Y.;
    • Sadeghi-Alavijeh, Omid;
    • Gale, Daniel P.;
    • Genomics England Research Consortium;
    • Ambrose, J. C.;
    • Arumugam, P.;
    • Baple, E. L.;
    • Bleda, M.;
    • Boardman-Pretty, F.;
    • Boissiere, J. M.;
    • Boustred, C. R.
    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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    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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    Cardiac Investigations in Sudden Unexpected Death in DEPDC5‐Related Epilepsy.

    Published in:
    Annals of Neurology, 2022, v. 91, n. 1, p. 101, doi. 10.1002/ana.26256
    By:
    • Bacq, Alexandre;
    • Roussel, Delphine;
    • Bonduelle, Thomas;
    • Zagaglia, Sara;
    • Maletic, Marina;
    • Ribierre, Théo;
    • Adle‐Biassette, Homa;
    • Marchal, Cécile;
    • Jennesson, Mélanie;
    • An, Isabelle;
    • Ambrose, J. C.;
    • Jackson, R.;
    • Ryten, M.;
    • Arumugam, P.;
    • Jones, L. J.;
    • Savage, K.;
    • Baple, E. L.;
    • Kasperaviciute, D.;
    • Sawant, K.;
    • Bleda, M.
    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
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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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    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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    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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    The second data release from the European Pulsar Timing Array: V. Search for continuous gravitational wave signals.

    Published in:
    Astronomy & Astrophysics / Astronomie et Astrophysique, 2024, v. 690, p. 1, doi. 10.1051/0004-6361/202348568
    By:
    • Antoniadis, J.;
    • Arumugam, P.;
    • Arumugam, S.;
    • Babak, S.;
    • Bagchi, M.;
    • Bak Nielsen, A.-S.;
    • Bassa, C. G.;
    • Bathula, A.;
    • Berthereau, A.;
    • Bonetti, M.;
    • Bortolas, E.;
    • Brook, P. R.;
    • Burgay, M.;
    • Caballero, R. N.;
    • Chalumeau, A.;
    • Champion, D. J.;
    • Chanlaridis, S.;
    • Chen, S.;
    • Cognard, I.;
    • Dandapat, S.
    Publication type:
    Article
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    The second data release from the European Pulsar Timing Array: IV. Implications for massive black holes, dark matter, and the early Universe.

    Published in:
    Astronomy & Astrophysics / Astronomie et Astrophysique, 2024, v. 685, p. 1, doi. 10.1051/0004-6361/202347433
    By:
    • EPTA Collaboration and InPTA Collaboration;
    • Antoniadis, J.;
    • Arumugam, P.;
    • Arumugam, S.;
    • Babak, S.;
    • Bagchi, M.;
    • Bak Nielsen, A.-S.;
    • Bassa, C. G.;
    • Bathula, A.;
    • Berthereau, A.;
    • Bonetti, M.;
    • Bortolas, E.;
    • Brook, P. R.;
    • Burgay, M.;
    • Caballero, R. N.;
    • Chalumeau, A.;
    • Champion, D. J.;
    • Chanlaridis, S.;
    • Chen, S.;
    • Cognard, I.
    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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