Hsin-Yu Huang

发表

“Spade sign” and inflammation/fibrosis limited to the upper and mid‐dermis as the pathognomonic features of acne keloidalis

Chao-Chun Yang, Chao-Kai Hsu, Chaw-Ning Lee, 2020, The Journal of dermatology.

Cas9‐guided haplotyping of three truncation variants in autosomal recessive disease

S. Fukushima, Hideki Nakamura, Y. Katsuda, 2022, Human mutation.

Microsporidial stromal keratitis: characterisation of clinical features, ultrastructural study by electron microscopy and efficacy of different surgical modalities

S. Tseng, Wei-Chen Lin, Sheng-Hsiang Lin, 2020, British Journal of Ophthalmology.

Case Report: A novel desmoplakin mutation in a taiwanese woman with familial dilated cardiomyopathy that necessitated heart transplantation

Chih-Hsin Hsu, Chao-Kai Hsu, P. Lin, 2022, Frontiers in Genetics.

Time series integrative analysis of RNA-Seq and miRNA expression data reveals key biologic wound healing pathways in keloid-prone individuals

J. McGrath, M. Tang, C. Ainali, 2018 .

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

M. Simpson, J. McGrath, R. Betz, 2017, Journal of Investigative Dermatology.

Semi-dominant GPNMB mutations in amyloidosis cutis dyschromica.

M. Simpson, J. Tolar, J. McGrath, 2019, The Journal of investigative dermatology.

Paper-based ELISA for the detection of autoimmune antibodies in body fluid-the case of bullous pemphigoid.

Hiroshi Shimizu, Chao-Min Cheng, Hsi-Kai Wang, 2014, Analytical chemistry.

Complexity of Transcriptional and Translational Interference of Laminin-332 Subunits in Junctional Epidermolysis Bullosa with LAMB3 Mutations

J. McGrath, Peng-Chieh Chen, K. Natsuga, 2021, Acta dermato-venereologica.

A de novo COL17A1 splicesite mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa

J. McGrath, Peng-Chieh Chen, M. Tang, 2021, European Journal of Dermatology.

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

M. Simpson, S. Blumen, J. Tolar, 2017, American journal of human genetics.

Late‐onset comedonal Darier's disease caused by a recurrent ATP2A2 mutation

Wen‐Chung Chen, B. Guevara, Julia Yu‐Yun Lee, 2019, The Journal of dermatology.

Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients

J. McGrath, Peng-Chieh Chen, M. Tang, 2022, Orphanet Journal of Rare Diseases.

Time Series Integrative Analysis of RNA Sequencing and MicroRNA Expression Data Reveals Key Biologic Wound Healing Pathways in Keloid-Prone Individuals.

J. McGrath, M. Tang, C. Ainali, 2018, The Journal of investigative dermatology.

Lymphocytic thrombophilic arteritis following mRNA-1273 severe acute respiratory syndrome coronavirus 2 vaccination: A case report and review of the literature

Julia Yu‐Yun Lee, Yi-Chen Liao, Hsin-Yu Huang, 2023, Dermatologica Sinica.

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

O. Sarig, M. Simpson, J. McGrath, 2020, The Journal of investigative dermatology.

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex

J. McGrath, Peng-Chieh Chen, K. Natsuga, 2020, Acta dermato-venereologica.

Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

Yen-Yin Chou, Yi-Han Chang, Meng-Che Tsai, 2022, Frontiers in Genetics.

Loss of RhoE function in dermatofibroma promotes disorganized dermal fibroblast extracellular matrix and increased integrin activation.

T. Shaw, M. Parsons, A. Onoufriadis, 2023, The Journal of investigative dermatology.

A possible role for second‐hit postzygotic GJB2 mutation in porokeratotic eccrine ostial and dermal duct nevus

Julia Yu‐Yun Lee, Hsin-Yu Huang, Hsing-San Yang, 2022, Journal of dermatology (Print).

Autosomal dominant epidermolysis bullosa simplex exacerbated by hyperkeratotic scabies

J. McGrath, Peng-Chieh Chen, Julia Yu‐Yun Lee, 2022, The Journal of dermatology.

Two cases of interleukin-7 (IL-7)-deficient generalized verrucosis.

H. Shimizu, Peng-Chieh Chen, T. Nomura, 2020, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Impact of narrow‐band ultraviolet B phototherapy on remission and relapses of mycosis fungoides in patients with Fitzpatrick skin III–IV

Julia Yu‐Yun Lee, Hsin-Yu Huang, C. Hsu, 2020, Journal of the European Academy of Dermatology and Venereology : JEADV.

Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14

J. McGrath, N. Levell, L. Liu, 2016, The British journal of dermatology.