King's College London

• Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica

  Onoufriadis, A., Hsu, C. K., Eide, C. R., Nanda, A., Orchard, G. E., Tomita, K., Sheriff, A., Scott, W., Tierney, C., Lee, J. Y. W., Gomaa, N. S., Desomchoke, R., Lwin, S. M., Tu, W. T., Chen, L. Y., Huang, H. Y., Chao, S. C., Yu-Yun Lee, J., Bare, Y., Hayday, T., & 12 othersGuy, A. L., Liu, L., Lees, C., Hirdler, T., Lovell, P., Xia, L., Dayrit, J. F., Calonje, E., Simpson, M. A., Tolar, J., Parsons, M. & McGrath, J. A., 1 Dec 2019, In: Journal of Investigative Dermatology. 139, 12, p. 2550-2554.e9

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

• Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple Dermatofibromas

  Supsrisunjai, C., Hsu, C-K., Michael, M., Duval, C., Lee, J., Yang, H-S., Huang, H-Y., Thitiwat, C., Onoufriadis, A., Steiner, R., Ariëns, R. A. S., Sarig, O., Sprecher, E., Eskin-Schwartz, M., Samlaska, C., Simpson, M. A., Calonje, E., Parsons, M. & McGrath, J. A., 7 Aug 2019, In: Journal of Investigative Dermatology.

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

• Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3

  Hsu, C. K., Romano, M. T., Nanda, A., Rashidghamat, E., Lee, J. Y. W., Huang, H. Y., Songsantiphap, C., Lee, J. Y. Y., Al-Ajmi, H., Betz, R. C., Simpson, M. A., McGrath, J. A. & Tziotzios, C., 1 May 2017, In: Journal of Investigative Dermatology. 137, 5, p. 1176-1179 4 p.

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

• Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23

  Lee, J. Y. W., Hsu, C. K., Michael, M., Nanda, A., Liu, L., McMillan, J. R., Pourreyron, C., Takeichi, T., Tolar, J., Reid, E., Hayday, T., Blumen, S. C., Abu-Mouch, S., Straussberg, R., Basel-Vanagaite, L., Barhum, Y., Zouabi, Y., Al-Ajmi, H., Huang, H. Y., Lin, T. C., & 6 othersAkiyama, M., Lee, J. Y. Y., McLean, W. H. I., Simpson, M. A., Parsons, M. & McGrath, J. A., 2 Feb 2017, In: American Journal of Human Genetics. 100, 2, p. 364-370

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

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