Mr James O'Sullivan BSc

Ophthalmic Genetics Scientist

Full contact details
View graph of relations

Publications

  1. 2021
  2. E-pub ahead of print

    Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency

    Newman, W., O'Keefe, R., Demain, L., Beaman, G., O'Sullivan, J., Edgerley, J. J., Miles, E. K., Busby, G. & Fitzgerald, C., 16 Jul 2021, (E-pub ahead of print) In: Reproductive BioMedicine Online.

    Research output: Contribution to journalArticlepeer-review

  3. Published

    A CHALLENGING CASE OF SPORADIC MELANOCYTOMA OF THE JUGULAR FORAMEN

    Donofrio, C. A., Roncaroli, F., Riccio, L., Pereira, M., O'Sullivan, J., Mayers, H., Potter, G. M., Djoukhadar, I. & Rutherford, S. A., 19 Jun 2021, In: Neuro-Chirurgie.

    Research output: Contribution to journalArticlepeer-review

  4. Published
  5. 2020
  6. Accepted/In press

    Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom Syndrome

    Huson, S., Staab, T., Pereira, M., Ward, H., Paredes, R., Evans, D. G., Baumhoer, D., O'Sullivan, J., Cheesman, E., Schindler, D. & Meyer, S., 11 Nov 2020, (Accepted/In press) In: Familial Cancer.

    Research output: Contribution to journalArticlepeer-review

  7. Published

    Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations

    Madhu, R., Beaman, G. M., Chandler, K. E., O'Sullivan, J., Urquhart, J. E., Khan, N., Martindale, E., Briggs, T. A., Clayton-Smith, J., Higgs, J., Batra, G., Kerr, B., Woolf, A. S. & Newman, W. G., 1 Sep 2020, In: European journal of medical genetics. 63, 9, 103974.

    Research output: Contribution to journalArticlepeer-review

  8. Published

    Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts

    Belot, A., Rice, G., Ommar, O. S., Rouchon, Q., Smith, E. M. D., Moreews, M., Tusseau, M., Frachette, C., Bournhonesque, R., Thielens, N., Gaboriaud, C., Rouvet, I., Chopin, E., Hoshino, A., Latour, S., Ranchin, B., Cimaz, R., Romagnani, P., Malcus, C., Fabien, N. & 22 others, Sarda, M-N., Kassai, B., Lega, J. C., Decramer, S., Abou-Jaoude, P., Bruce, I., Simonet, T., Bardel, C., Rollat-Farnier, P. A., Viel, S., Reumaux, H., O'Sullivan, J., Walzer, T., Mathieu, A-L., Marenne, G., Ludwig, T., Genin, E., Ellingford, J., Bader-Meunier, B., Briggs, T., Beresford, M. W. & Crow, Y., Feb 2020, In: The Lancet Rheumatology. 2, p. e99-109 10 p.

    Research output: Contribution to journalArticlepeer-review

  9. 2019
  10. Published

    A homozygous missense variant in CHRM3 associated with familial urinary bladder disease

    Beaman, G. M., Galatà, G., Teik, K. W., Urquhart, J. E., Aishah, A., O'Sullivan, J., Bhaskar, S. S., Wood, K. A., Thomas, H. B., O'Keefe, R. T., Woolf, A. S., Stuart, H. M. & Newman, W. G., 19 Nov 2019, In: Clinical Genetics. 96, 6, p. 515-520 6 p.

    Research output: Contribution to journalArticlepeer-review

  11. Published

    Analysis of head and neck carcinoma progression reveals novel and relevant stage-specific changes associated with immortalisation and malignancy.

    Veeramachaneni, R., Walker, T., Revil, T., De Weck, A., Badescu, D., O'Sullivan, J., Higgins, C. L., Elliot, L., Liloglou, T., Risk, J. M., Shaw, R. J., Hampson, L., Hampson, I., Dearden, S., Woodwards, R., Prime, S., Hunter, K., Parkinson, E. K., Ragoussis, J. & Thakkar, N., 19 Aug 2019, In: Scientific Reports. 17 p., 11992.

    Research output: Contribution to journalArticlepeer-review

  12. Published

    Intracranial angiomatoid fibrous histiocytoma with EWSR1-CREB family fusions: a report of two pediatric cases

    Konstantinidis, A., Cheesman, E., O'Sullivan, J., Pavaine, J., Avula, S., Pizer, B. & Kilday, J. P., 2019, In: World Neurosurgery.

    Research output: Contribution to journalArticlepeer-review

  13. 2018
  14. 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

Previous 1 2 3 4 5 Next

Research Explorer downloads

199
120
69

Research output: Contribution to journalArticlepeer-review