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Rajiv Machado

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Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being

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  • 1 Similar Profiles
  • Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

    Deciphering Developmental Disorders Study, UK10K Consortium, NIHR BioResource, Simpson, M. A., Prigmore, E., Jones, P., Armstrong, R., Bennett, C., Berg, J., Bernhard, B., Cooper, N., Cox, H., Flinter, F., Fry, A., Gill, H., Gray, E., Harrison, V., Irving, M., Josifova, D., Langman, C., & 44 othersMohammed, S., Moore, D., Murphy, H., Roberts, J., Tischkowitz, M., Wright, M., Bolton, P., Breen, G., Clement, G., Collier, D., Curran, S., Ellis, P., Evans, D., Hart, D., Hubbard, T., Hysi, P., Jamshidi, Y., Lachance, G., Lopes, M., McGuffin, P., Metrustry, S., Moayyeri, A., Onoufriadis, A., Parr, J. R., Quaye, L., Sharp, S. I., Small, K., Spasic-Boskovic, O., Stevens, E., Valdes, A., Walters, J. T. R., Wang, Y., Bennett, D., Bradley, J. R., Davis, J., Koziell, A., Machado, R., Richards, M., Smith, K., Southgate, L., Thomas, E., Trembath, R., Williamson, C. & Yong, P., 2 May 2019, In: American Journal of Human Genetics. 104, 5, p. 948-956 9 p.

    Research output: Contribution to journalArticlepeer-review

    39 Citations (Scopus)
  • Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

    Carss, K. J., Arno, G., Erwood, M., Stephens, J., Sanchis-Juan, A., Hull, S., Megy, K., Grozeva, D., Dewhurst, E., Malka, S., Plagnol, V., Penkett, C., Stirrups, K., Rizzo, R., Wright, G., Josifova, D., Bitner-Glindzicz, M., Scott, R. H., Clement, E., Allen, L., & 290 othersArmstrong, R., Brady, A. F., Carmichael, J., Chitre, M., Henderson, R. H. H., Hurst, J., MacLaren, R. E., Murphy, E., Paterson, J., Rosser, E., Thompson, D. A., Wakeling, E., Ouwehand, W. H., Michaelides, M., Moore, A. T., Aitman, T., Alachkar, H., Ali, S., Allen, L., Allsup, D., Ambegaonkar, G., Anderson, J., Antrobus, R., Armstrong, R., Arno, G., Arumugakani, G., Ashford, S., Astle, W., Attwood, A., Austin, S., Bacchelli, C., Bakchoul, T., Bariana, T. K., Baxendale, H., Bennett, D., Bethune, C., Bibi, S., Bitner-Glindzicz, M., Bleda, M., Boggard, H., Bolton-Maggs, P., Booth, C., Brady, A., Brown, M., Browning, M., Bryson, C., Burns, S., Calleja, P., Canham, N., Carmichael, J., Carss, K., Caulfield, M., Chalmers, E., Chandra, A., Chinnery, P., Chitre, M., Church, C., Clement, E., Clements-Brod, N., Clowes, V., Coghlan, G., Collins, P., Cooper, N., Creaser-Myers, A., DaCosta, R., Daugherty, L., Davies, S., Davis, J., De Vries, M., Deegan, P., Deevi, S. V. V., Deshpande, C., Devlin, L., Dewhurst, E., Doffinger, R., Dormand, N., Drewe, E., Edgar, D., Egner, W., Erber, W. N., Erwood, M., Everington, T., Favier, R., Firth, H., Fletcher, D., Flinter, F., Fox, J. C., Frary, A., Freson, K., Furie, B., Furnell, A., Gale, D., Gardham, A., Gattens, M., Ghali, N., Ghataorhe, P. K., Ghurye, R., Gibbs, S., Gilmour, K., Gissen, P., Goddard, S., Gomez, K., Gordins, P., Gräf, S., Greene, D., Greenhalgh, A., Greinacher, A., Grigoriadou, S., Grozeva, D., Hackett, S., Hadinnapola, C., Hague, R., Haimel, M., Halmagyi, C., Hammerton, T., Hart, D., Hayman, G., Heemskerk, J. W. M., Henderson, R., Hensiek, A., Henskens, Y., Herwadkar, A., Holden, S., Holder, M., Holder, S., Hu, F., Huissoon, A., Humbert, M., Hurst, J., James, R., Jolles, S., Josifova, D., Kazmi, R., Keeling, D., Kelleher, P., Kelly, A. M., Kennedy, F., Kiely, D., Kingston, N., Koziell, A., Krishnakumar, D., Kuijpers, T. W., Kumararatne, D., Kurian, M., Laffan, M. A., Lambert, M. P., Allen, H. L., Lawrie, A., Lear, S., Lees, M., Lentaigne, C., Liesner, R., Linger, R., Longhurst, H., Lorenzo, L., Machado, R., Mackenzie, R., MacLaren, R., Maher, E., Maimaris, J., Mangles, S., Manson, A., Mapeta, R., Markus, H. S., Martin, J., Masati, L., Mathias, M., Matser, V., Maw, A., McDermott, E., McJannet, C., Meacham, S., Meehan, S., Megy, K., Mehta, S., Michaelides, M., Millar, C. M., Moledina, S., Moore, A., Morrell, N., Mumford, A., Murng, S., Murphy, E., Nejentsev, S., Noorani, S., Nurden, P., Oksenhendler, E., Ouwehand, W. H., Papadia, S., Park, S. M., Parker, A., Pasi, J., Patch, C., Paterson, J., Payne, J., Peacock, A., Peerlinck, K., Penkett, C. J., Pepke-Zaba, J., Perry, D. J., Pollock, V., Polwarth, G., Ponsford, M., Qasim, W., Quinti, I., Rankin, S., Rankin, J., Raymond, F. L., Rehnstrom, K., Reid, E., Rhodes, C. J., Richards, M., Richardson, S., Richter, A., Roberts, I., Rondina, M., Rosser, E., Roughley, C., Rue-Albrecht, K., Samarghitean, C., Sanchis-Juan, A., Sandford, R., Santra, S., Sargur, R., Savic, S., Schulman, S., Schulze, H., Scott, R., Scully, M., Seneviratne, S., Sewell, C., Shamardina, O., Shipley, D., Simeoni, I., Sivapalaratnam, S., Smith, K., Sohal, A., Southgate, L., Staines, S., Staples, E., Stauss, H., Stein, P., Stephens, J., Stirrups, K., Stock, S., Suntharalingam, J., Tait, R. C., Talks, K., Tan, Y., Thachil, J., Thaventhiran, J., Thomas, E., Thomas, M., Thompson, D., Thrasher, A., Tischkowitz, M., Titterton, C., Toh, C. H., Toshner, M., Treacy, C., Trembath, R., Tuna, S., Turek, W., Turro, E., Van Geet, C., Veltman, M., Vogt, J., von Ziegenweldt, J., Noordegraaf, A. V., Wakeling, E., Wanjiku, I., Warner, T. Q., Wassmer, E., Watkins, H., Webster, A., Welch, S., Westbury, S., Wharton, J., Whitehorn, D., Wilkins, M., Willcocks, L., Williamson, C., Woods, G., Wort, J., Yeatman, N., Yong, P., Young, T., Yu, P., Webster, A. R. & Raymond, F. L., 5 Jan 2017, In: American Journal of Human Genetics. 100, 1, p. 75-90 16 p.

    Research output: Contribution to journalArticlepeer-review

    300 Citations (Scopus)
  • Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

    Southgate, L., Sukalo, M., Karountzos, A. S. V., Taylor, E. J., Collinson, C. S., Ruddy, D., Snape, K. M., Dallapiccola, B., Tolmie, J. L., Joss, S., Brancati, F., Digilio, M. C., Graul-Neumann, L. M., Salviati, L., Coerdt, W., Jacquemin, E., Wuyts, W., Zenker, M., Machado, R. D. & Trembath, R. C., Aug 2015, In: Circulation-Cardiovascular Genetics. 8, 4, p. 572-81 10 p.

    Research output: Contribution to journalArticlepeer-review

    76 Citations (Scopus)
  • Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

    Machado, R. D., Southgate, L., Eichstaedt, C. A., Aldred, M. A., Austin, E. D., Best, D. H., Chung, W. K., Benjamin, N., Elliott, C. G., Eyries, M., Fischer, C., Gräf, S., Hinderhofer, K., Humbert, M., Keiles, S. B., Loyd, J. E., Morrell, N. W., Newman, J. H., Soubrier, F., Trembath, R. C., & 2 othersViales, R. R. & Grünig, E., Dec 2015, In: Human Mutation. 36, 12, p. 1113-27 15 p.

    Research output: Contribution to journalArticlepeer-review

    175 Citations (Scopus)
  • Assessment of a pulmonary origin for blood outgrowth endothelial cells by examination of identical twins harboring a BMPR2 mutation

    Ormiston, M. L., Southgate, L., Treacy, C., Pepke-Zaba, J., Trembath, R. C., Machado, R. D. & Morrell, N. W., 15 Jul 2013, In: American Journal of Respiratory and Critical Care Medicine. 188, 2, p. 258-60 3 p.

    Research output: Contribution to journalArticlepeer-review

    4 Citations (Scopus)