King's College London

Research portal

Dr Melita Irving

  1. Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease

    Youlten, S. E., Kemp, J. P., Logan, J. G., Ghirardello, E. J., Sergio, C. M., Dack, M. R. G., Guilfoyle, S. E., Leitch, V. D., Butterfield, N. C., Komla-Ebri, D., Chai, R. C., Corr, A. P., Smith, J. T., Mohanty, S. T., Morris, J. A., McDonald, M. M., Quinn, J. M. W., McGlade, A. R., Bartonicek, N., Jansson, M. & 17 others, Hatzikotoulas, K., Irving, M. D., Beleza-Meireles, A., Rivadeneira, F., Duncan, E., Richards, J. B., Adams, D. J., Lelliott, C. J., Brink, R., Phan, T. G., Eisman, J. A., Evans, D. M., Zeggini, E., Baldock, P. A., Bassett, J. H. D., Williams, G. R. & Croucher, P. I., Dec 2021, In: Nature Communications. 12, 1, 2444.

    Research output: Contribution to journalArticlepeer-review

  2. International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia

    Savarirayan, R., Ireland, P., Irving, M., Thompson, D., Alves, I., Baratela, W. A. R., Betts, J., Bober, M. B., Boero, S., Briddell, J., Campbell, J., Campeau, P. M., Carl-Innig, P., Cheung, M. S., Cobourne, M., Cormier-Daire, V., Deladure-Molla, M., del Pino, M., Elphick, H., Fano, V. & 35 others, Fauroux, B., Gibbins, J., Groves, M. L., Hagenäs, L., Hannon, T., Hoover-Fong, J., Kaisermann, M., Leiva-Gea, A., Llerena, J., Mackenzie, W., Martin, K., Mazzoleni, F., McDonnell, S., Meazzini, M. C., Milerad, J., Mohnike, K., Mortier, G. R., Offiah, A., Ozono, K., Phillips, J. A., Powell, S., Prasad, Y., Raggio, C., Rosselli, P., Rossiter, J., Selicorni, A., Sessa, M., Theroux, M., Thomas, M., Trespedi, L., Tunkel, D., Wallis, C., Wright, M., Yasui, N. & Fredwall, S. O., 26 Nov 2021, (E-pub ahead of print) In: Nature Reviews Endocrinology.

    Research output: Contribution to journalArticlepeer-review

  3. 100,000 genomes pilot on rare-disease diagnosis in health care — Preliminary report

    The 100,000 Genomes Project Pilot Investigators, 11 Nov 2021, In: New England Journal of Medicine. 385, 20, p. 1868-1880 13 p.

    Research output: Contribution to journalArticlepeer-review

  4. Clinical trials in skeletal dysplasia: A paradigm for treating rare diseases

    Sabir, A. & Irving, M., 1 Sep 2021, In: British medical bulletin. 139, 1, p. 16-35 20 p.

    Research output: Contribution to journalReview articlepeer-review

  5. Imprinted gene expression and function of the dopa decarboxylase gene in the developing heart

    Prickett, A., Montibus, B., Barkas, N., Amante, S., Franco, M., Cowley, M., Puszyk, W., Shannon, M., Irving, M., Madon-Simon, M., Ward, A., Schulz, R., Baldwin, H. S. & Oakey, R., 19 May 2021, (E-pub ahead of print) In: Frontiers in Cell and Developmental Biology. 00, 00, p. 00 00.

    Research output: Contribution to journalArticlepeer-review

  6. “A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops.”: a case report

    Shangaris, P., Ho, A., Marnerides, A., George, S., Mudher, A., Yau, S., Jansson, M., Hoyle, J., Ahn, J. W., Ellard, S., Irving, M., Wellesley, D., Pasupathy, D. & Holder-Espinasse, M., 26 Feb 2021, In: Bmc Medical Genomics. 14, 1, 58.

    Research output: Contribution to journalArticlepeer-review

  7. Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders

    Botto, L. D., Meeths, M., Campos-Xavier, B., Bergamaschi, R., Mazzanti, L., Scarano, E., Finocchi, A., Cancrini, C., Zirn, B., Kühnle, I., Kramm, C. M., Alanay, Y., Jones, W. D., Irving, M., Sabir, A., Henter, J. I., Borgström, B., Nordgren, A., Hammarsjö, A., Putti, C. & 7 others, Mozzato, C., Zuccarello, D., Nishimura, G., Bonafè, L., Grigelioniene, G., Unger, S. & Superti-Furga, A., Feb 2021, In: American Journal of Medical Genetics, Part A. 185, 2, p. 517-527 11 p.

    Research output: Contribution to journalArticlepeer-review

  8. Welcome to the new genomics: an introduction to the NHS Genomic Medicine Service for oral healthcare professionals

    Cobourne, M. T., Irving, M. & Seller, A., Nov 2020, In: British Dental Journal. 229, 10, p. 682-686 5 p.

    Research output: Contribution to journalArticlepeer-review

  9. Whole-genome sequencing of patients with rare diseases in a national health system

    NIHR BioResource for the 100,000 Genomes Project, Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., Stephens, J., Mapeta, R., Burren, O. S., Downes, K., Haimel, M., Tuna, S., Deevi, S. V. V., Aitman, T. J., Bennett, D. L. & 31 others, Calleja, P., Carss, K., Caulfield, M. J., Chinnery, P. F., Dixon, P. H., Gale, D. P., James, R., Koziell, A., Laffan, M. A., Levine, A. P., Maher, E. R., Markus, H. S., Morales, J., Morrell, N. W., Mumford, A. D., Ormondroyd, E., Rankin, S., Rendon, A., Richardson, S., Bennett, D. L., Bueser, T., Carr-White, G., Flinter, F. A., Irving, M., Josifova, D., Koziell, A., Mohammed, S. N., Thomas, E., Traylor, M., Trembath, R. & Williamson, C., 2 Jul 2020, In: Nature. 583, 7814, p. 96-102 7 p.

    Research output: Contribution to journalArticlepeer-review

  10. Acromesomelic Dysplasia, Type Maroteaux: Impact of Long-Term (8 Years) High-Dose Growth Hormone Treatment on Growth Velocity and Final Height in 2 Siblings

    Arya, V. B., Raj, M., Younes, M., Chapman, S., Irving, M., Kapoor, R. R. & Buchanan, C. R., 2020, (Accepted/In press) In: Hormone research in paediatrics.

    Research output: Contribution to journalArticlepeer-review

  11. 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 others, Mohammed, 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

  12. WNT10A mutation results in severe tooth agenesis in a family of three sisters

    Abid, M. F., Simpson, M. A., Barbosa, I. A., Seppala, M., Irving, M., Sharpe, P. T. & Cobourne, M. T., Aug 2018, In: Orthodontics and Craniofacial Research. 21, 3, p. 153-159 7 p.

    Research output: Contribution to journalArticlepeer-review

  13. Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene

    Irving, M. D., Dimitrov, B. I., Wessels, M., Holder-Espinasse, M., Chitayat, D. & Simpson, M. A., 1 Dec 2016, In: American Journal of Medical Genetics. Part A. 170, 12, p. 3133-3137 5 p.

    Research output: Contribution to journalArticlepeer-review

  14. Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions

    Tropeano, M., Howley, D., Gazzellone, M. J., Wilson, C. E., Ahn, J. W., Stavropoulos, D. J., Murphy, C., Eis, P. S., Hatchwell, E., Dobson, R. J. B., Robertson, D., Holder, M., Irving, M., Josifova, D., Nehammer, A., Ryten, M., Spain, D., Pitts, M., Bramham, J., Asherson, P. & 9 others, Curran, S., Vassos, E., Breen, G., Flinter, F., Ogilvie, C. M., Collier, D. A., Scherer, S. W., Mcalonan, G. M. & Murphy, D. G., 2016, In: Journal of Medical Genetics.

    Research output: Contribution to journalArticlepeer-review

  15. Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome

    Ghanim, M., Rossignol, S., Delobel, B., Irving, M., Miller, O., Devisme, L., Plennevaux, J-L., Lucidarme-Rossi, S., Manouvrier, S., Salah, A., Chivu, O., Netchine, I. & Vincent-Delorme, C., Mar 2013, In: American Journal of Medical Genetics. Part A. 161, 3, p. 572-577 6 p.

    Research output: Contribution to journalArticlepeer-review

  16. Segmental Paternal Uniparental Disomy (patUPD) of 14q32 With Abnormal Methylation Elicits the Characteristic Features of Complete patUPD14

    Irving, M., Buiting, K., Kanber, D., Donaghue, C., Schulz, R., Offiah, A., Mohammed, S. & Oakey, R. J., Aug 2010, In: American Journal of Medical Genetics. Part A. 152A, 8, p. 1942 - 1950 9 p.

    Research output: Contribution to journalArticlepeer-review

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