Miss Leigh Demain

Honorary Research Fellow

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Publications

  1. 2019
  2. Published

    A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families.

    Newman, W., Demain, L., O'Keefe, R. & Molina Ramirez, L., 12 Dec 2019, In : Journal of Human Genetics.

    Research output: Contribution to journalArticlepeer-review

  3. Published

    Diagnosing and Preventing Hearing Loss in the Genomic Age

    McDermott, J. H., Molina-Ramírez, L. P., Bruce, I. A., Mahaveer, A., Turner, M., Miele, G., Body, R., Mahood, R., Ulph, F., MacLeod, R., Harvey, K., Booth, N., Demain, L. A. M., Wilson, P., Black, G. C., Morton, C. C. & Newman, W. G., 18 Oct 2019, In : Trends in Hearing (Online). 23, p. 2331216519878983

    Research output: Contribution to journalArticlepeer-review

  4. 2018
  5. Published

    A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects

    Demain, L. A. M., Antunes, D., O'Sullivan, J., Bhaskhar, S. S., O'Keefe, R. T. & Newman, W. G., 19 Apr 2018, In : Clinical Genetics.

    Research output: Contribution to journalArticlepeer-review

  6. 2017
  7. Published

    Marfanoid habitus is a nonspecific feature of Perrault syndrome

    Zerkaoui, M., Demain, L. A. M., Cherkaoui Jaouad, I., Ratbi, I., Amjoud, K., Urquhart, J. E., O'Sullivan, J., Newman, W. G. & Sefiani, A., 1 Oct 2017, In : Clinical dysmorphology. 26, 4, p. 200-204 5 p.

    Research output: Contribution to journalArticlepeer-review

  8. Published

    Genetics of mitochondrial dysfunction and infertility

    Demain, L. A. M., Conway, G. S. & Newman, W., Feb 2017, In : Clinical Genetics. 91, 2, p. 199-207 9 p.

    Research output: Contribution to journalReview articlepeer-review

  9. 2016
  10. Published

    Expanding the Genotypic Spectrum of Perrault syndrome.

    Demain, L., Urquhart, J., O'Sullivan, J., Williams, S., Jenkinson, E., Bhaskar, S. S., Lourenco, C. M., Heiberg, A., Pearce, S. H., Shalev, S. A., Yue, W. W., Mackinnon, S., Munro, K., Newbury-Ecob, R., Becker, K., Kim, M. J., O'Keefe, R. & Newman, W., 2016, In : Clinical Genetics.

    Research output: Contribution to journalArticlepeer-review

  11. Published

    Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.

    Faridi, R., Rehman, A. U., Morell, R. J., Friedman, P. E., Demain, L., Zahra, S., Khan, A. A., Tohlob, D., Assir, M. Z., Beaman, G., Khan, S. N., Newman, W., Riazuddin, S. & Friedman, T. B., 2016, In : Clinical Genetics. 15 p.

    Research output: Contribution to journalArticlepeer-review

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Research output: Contribution to journalArticlepeer-review