University of Hertfordshire

• Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population

  Manchanda, R., Blyuss, O., Gaba, F., Gordeev, V. S., Jacobs, C., Burnell, M., Gan, C., Taylor, R., Turnbull, C., Legood, R., Zaikin, A., Antoniou, A. C., Menon, U. & Jacobs, I., 5 Apr 2018, In: American journal of medical genetics. Part A. 55, 8, p. 538-545 8 p.

  Research output: Contribution to journal › Article › peer-review

• Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene

  Stembridge, N. S., Vandersteen, A. M., Ghali, N., Sawle, P., Nesbitt, M., Pollitt, R. C., Ferguson, D. J. P., Holden, S., Elmslie, F., Henderson, A., Hulmes, D. J. S. & Pope, F. M., Aug 2015, In: American journal of medical genetics. Part A. 167A, 8, p. 1763-72 10 p.

  Research output: Contribution to journal › Article › peer-review

• Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations

  Vandersteen, A. M., Lund, A. M., Ferguson, D. J. P., Sawle, P., Pollitt, R. C., Holder, S. E., Wakeling, E., Moat, N. & Pope, F. M., Feb 2014, In: American journal of medical genetics. Part A. 164A, 2, p. 386-91 6 p.

  Research output: Contribution to journal › Article › peer-review

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