Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome Z Lin, Q Chen, M Lee, X Cao, J Zhang, D Ma, L Chen, X Hu, H Wang, ... The American Journal of Human Genetics 90 (3), 558-564, 2012 | 345 | 2012 |
Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia Z Lin, Q Chen, L Shi, M Lee, KA Giehl, Z Tang, H Wang, J Zhang, J Yin, ... The American Journal of Human Genetics 91 (5), 906-911, 2012 | 76 | 2012 |
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome H Wang, X Cao, Z Lin, M Lee, X Jia, Y Ren, L Dai, L Guan, J Zhang, X Lin, ... Human molecular genetics 24 (1), 243-250, 2015 | 60 | 2015 |
Gain-of-function mutations in TRPM4 activation gate cause progressive symmetric erythrokeratodermia H Wang, Z Xu, BH Lee, S Vu, L Hu, M Lee, D Bu, X Cao, S Hwang, ... Journal of Investigative Dermatology 139 (5), 1089-1097, 2019 | 42 | 2019 |
Mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal-dominant IFAP syndrome H Wang, A Humbatova, Y Liu, W Qin, M Lee, N Cesarato, F Kortüm, ... The American Journal of Human Genetics 107 (1), 34-45, 2020 | 38 | 2020 |
Allele-specific small interfering RNA corrects aberrant cellular phenotype in keratitis-ichthyosis-deafness syndrome keratinocytes MY Lee, HZ Wang, TW White, T Brooks, A Pittman, H Halai, A Petrova, ... Journal of Investigative Dermatology 140 (5), 1035-1044. e7, 2020 | 26 | 2020 |
Genotype‒phenotype correlation of TRPV3-related Olmsted Syndrome W Zhong, L Hu, X Cao, J Zhao, X Zhang, M Lee, H Wang, J Zhang, ... Journal of Investigative Dermatology 141 (3), 545-554, 2021 | 24 | 2021 |
Oral acyclovir and intralesional interferon injections for treatment of giant pyogenic granuloma–like lesions in an immunocompromised patient with human orf M Ran, M Lee, J Gong, Z Lin, R Li JAMA dermatology 151 (9), 1032-1034, 2015 | 22 | 2015 |
Epidermolysis bullosa pruriginosa treated with baricitinib X Jiang, H Wang, M Lee, Z Lin JAMA dermatology 157 (10), 1243-1244, 2021 | 17 | 2021 |
Semidominant inheritance in olmsted syndrome X Cao, H Wang, Y Li, M Lee, L Jiang, Y Zhou, C Feng, Z Lin, Y Yang The Journal of investigative dermatology 136 (8), 1722-1725, 2016 | 14 | 2016 |
Lipoid proteinosis resulting from a large homozygous deletion affecting part of the ECM1 gene and adjacent long non-coding RNA MY Lee, HJ Wang, Y Han, Y Zhou, JH Zhao, LN Duo, C Feng, H Hua, ... Acta Dermato-Venereologica 95 (5), 608-610, 2015 | 13 | 2015 |
A patient‐oriented, general‐practitioner‐level, deep‐learning‐based cutaneous pigmented lesion risk classifier on a smartphone YPH Chin, ZY Hou, MY Lee, HM Chu, HH Wang, YT Lin, A Gittin, ... British Journal of Dermatology 182 (6), 1498-1500, 2020 | 12 | 2020 |
ITGB4-associated junctional epidermolysis bullosa without pylori atresia but profound genito-urinary involvement M Lee, Q Chen, H Wang, J Zhang, Z Lin, Y Yang Acta Dermato-Venereologica 95 (1), 112-113, 2015 | 11 | 2015 |
Biallelic variants in lanosterol synthase (LSS) cause palmoplantar keratoderma-congenital alopecia syndrome type 2 F Yang, X Jiang, Y Zhu, M Lee, Z Xu, J Zhang, Q Li, M Lin, H Wang, Z Lin Journal of Investigative Dermatology 142 (10), 2687-2694. e2, 2022 | 9 | 2022 |
Olmsted syndrome with alopecia universalis caused by heterozygous mutation in PERP S Dai, Z Sun, M Lee, H Wang, Y Yang, Z Lin British Journal of Dermatology 182 (1), 242-244, 2020 | 9 | 2020 |
Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization Y Pan, C Feng, H Wang, M Lee, Z Tang, Z Lin Journal of Dermatological Science 98 (1), 35-40, 2020 | 6 | 2020 |
Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder Z Gong, S Dai, X Jiang, M Lee, X Zhu, H Wang, Z Lin British Journal of Dermatology 188 (1), 100-111, 2023 | 5 | 2023 |
Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads R Mo, M Lin, M Lee, W Yan, H Wang, Z Lin Journal of the European Academy of Dermatology and Venereology 36 (10), 1857 …, 2022 | 3 | 2022 |
Recessive dystrophic epidermolysis bullosa caused by a de novo interstitial deletion spanning COL7A1 and a hemizygous splicing mutation in trans M Lee, G Xu, K Wang, H Wang, J Zhang, Z Tang, Z Lin, Y Yang Clinical and Experimental Dermatology 41 (4), 372-378, 2016 | 3 | 2016 |
A stepwise approach for the management of primary erythromelalgia: A prospective single-arm study Z Wang, H Wang, M Lee, MY Lin, Z Lin Journal of the American Academy of Dermatology 87 (3), 698-700, 2022 | 1 | 2022 |