John Lee

106

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4 Article
2 Letter

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

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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

11 Citations (Scopus)
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

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21 Citations (Scopus)

382 Downloads (Pure)
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

Open Access
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31 Citations (Scopus)

195 Downloads (Pure)
Mutations in KLHL24 add to the molecular heterogeneity of epidermolysis bullosa simplex
Lee, J. Y. W., Liu, L., Hsu, C-K., Aristodemou, S., Ozoemena, L., Ogboli, M., Moss, C., Martinez, A. E., Mellerio, J. E. & McGrath, J. A., 19 Jan 2017, (E-pub ahead of print) In: Journal of Investigative Dermatology. 137, 6, p. 1378-1380
Research output: Contribution to journal › Letter › peer-review

Open Access
File

40 Citations (Scopus)

212 Downloads (Pure)

John Lee

Fingerprint

Research output

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

Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica

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

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

Mutations in KLHL24 add to the molecular heterogeneity of epidermolysis bullosa simplex