• 2510 Citations
  • 28 h-Index
1965 …2019

Research output per year

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Research Output

  • 2510 Citations
  • 28 h-Index
  • 67 Article
  • 3 Review article
  • 2 Editorial
  • 1 Letter

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

Jeffries, A. R., Maroofian, R., Salter, C. G., Chioza, B. A., Cross, H. E., Patton, M. A., Dempster, E., Karen Temple, I., Mackay, D. J. G., Rezwan, F. I., Aksglaede, L., Baralle, D., Dabir, T., Hunter, M. F., Kamath, A., Kumar, A., Newbury-Ecob, R., Selicorni, A., Springer, A., Van Maldergem, L. & 6 others, Varghese, V., Yachelevich, N., Tatton-Brown, K., Mill, J., Crosby, A. H. & Baple, E. L., 2019, In : Genome Research. 29, 7, p. 1057-1066 10 p.

Research output: Contribution to journalArticle

Open Access
  • 4 Scopus citations

    MNS1 variant associated with situs inversus and male infertility

    Leslie, J. S., Rawlins, L. E., Chioza, B. A., Olubodun, O. R., Salter, C. G., Fasham, J., Jones, H. F., Cross, H. E., Lam, S., Harlalka, G. V., Muggenthaler, M. M. A., Crosby, A. H. & Baple, E. L., Jan 1 2019, (Accepted/In press) In : European Journal of Human Genetics.

    Research output: Contribution to journalArticle

  • Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

    Muggenthaler, M. M. A., Chowdhury, B., Hasan, S. N., Cross, H. E., Mark, B., Harlalka, G. V., Patton, M. A., Ishida, M., Behr, E. R., Sharma, S., Zahka, K., Faqeih, E., Blakley, B., Jackson, M., Lees, M., Dolinsky, V., Cross, L., Stanier, P., Salter, C., Baple, E. L. & 4 others, Alkuraya, F. S., Crosby, A. H., Triggs-Raine, B. & Chioza, B. A., Jan 2017, In : PLoS genetics. 13, 1, e1006470.

    Research output: Contribution to journalArticle

  • 7 Scopus citations

    Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73

    Jinks, R. N., Puffenberger, E. G., Baple, E., Harding, B., Crino, P., Fogo, A. B., Wenger, O., Xin, B., Koehler, A. E., McGlincy, M. H., Provencher, M. M., Smith, J. D., Tran, L., Al Turki, S., Chioza, B. A., Cross, H., Harlalka, G. V., Hurles, M. E., Maroofian, R., Heaps, A. D. & 10 others, Morton, M. C., Stempak, L., Hildebrandt, F., Sadowski, C. E., Zaritsky, J., Campellone, K., Morton, D. H., Wang, H., Crosby, A. & Strauss, K. A., Aug 1 2015, In : Brain. 138, 8, p. 2173-2190 18 p.

    Research output: Contribution to journalArticle

  • 24 Scopus citations

    A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression

    Wilson, W. C., Hornig-Do, H. T., Bruni, F., Chang, J. H. O., Jourdain, A. A., Martinou, J. C., Falkenberg, M., Spåhr, H., Larsson, N. G., Lewis, R. J., Hewitt, L., Baslé, A., Cross, H. E., Tong, L., Lebel, R. R., Crosby, A. H., Chrzanowska-Lightowlers, Z. M. A. & Lightowlers, R. N., Dec 1 2014, In : Human molecular genetics. 23, 23, p. 6345-6355 11 p.

    Research output: Contribution to journalArticle

  • 38 Scopus citations