L. Dai

发表

Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.

R. Betz, K. Giehl, Ruoyu Li, 2012, American journal of human genetics.

CARD9 mutations linked to subcutaneous phaeohyphomycosis and TH17 cell deficiencies.

Xiaolin Wang, Yong-hao Xu, Wei Liu, 2014, The Journal of allergy and clinical immunology.

Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.

D. Kelsell, C. Scott, Xun Xu, 2015, American journal of human genetics.

Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type.

Hui Jiang, Jianguo Zhang, Jinghua Yin, 2014, The Journal of investigative dermatology.

Recurrent splice‐site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome‐like features in a Chinese patient

Y. Yang, L. Dai, H. Wang, 2014, Clinical and experimental dermatology.

Exome sequencing identified FGF12 as a novel candidate gene for Kashin-Beck disease

Hui Shen, Xiangding Chen, L. Tan, 2015, Functional & Integrative Genomics.

Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.

Jianguo Zhang, L. Guan, E. Y. Zhou, 2015, Human molecular genetics.

Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.

Jianguo Zhang, L. Guan, Yali Ren, 2015, Human molecular genetics.

Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.

A. Wei, M. Zhang, Lin Yang, 2013, The Journal of investigative dermatology.

Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility

O. Sarig, E. Sprecher, Jianguo Zhang, 2016, Nature Genetics.

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

Z. Tümer, T. Rosenberg, Jianguo Zhang, 2019, Scientific Reports.

Exome Sequencing and Functional Analysis Identifies a Novel Mutation in EXT1 Gene That Causes Multiple Osteochondromas

Ling Yang, Jun Wang, Xiong Guo, 2013, PloS one.

FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome

Huanming Yang, Jianguo Zhang, N. Fan, 2017, Oncotarget.

Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.

Jianguo Zhang, L. Duo, Xuanzhu Liu, 2015, Gene.