J. Y. Lee

发表

Homozygous nonsense mutation in DSC3 resulting in skin fragility and hypotrichosis.

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

Lichen planus and lichenoid dermatoses: Conventional and emerging therapeutic strategies.

J. McGrath, D. Fenton, C. Tziotzios, 2018, Journal of the American Academy of Dermatology.

Lichen planus and lichenoid dermatoses: Clinical overview and molecular basis.

J. McGrath, D. Fenton, C. Tziotzios, 2018, Journal of the American Academy of Dermatology.

Recurrent KRT10 Variant in Ichthyosis with Confetti

M. Akiyama, J. McGrath, Y. Okuno, 2020, Acta Dermato-Venereologica.

Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45

M. Simpson, J. McGrath, A. Onoufriadis, 2017, American journal of medical genetics. Part A.

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.

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

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

Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility.

M. Simpson, J. McGrath, M. Parsons, 2017, Journal of dermatological science.

Advances in the genetic understanding of hypohidrotic ectodermal dysplasia

J. McGrath, T. Higashino, J. Y. Lee, 2017 .

Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation

M. Akiyama, J. McGrath, Y. Okuno, 2022, Frontiers in Immunology.

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

D. Kelsell, M. Simpson, M. Akiyama, 2017, Journal of Investigative Dermatology.

Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1.

M. Simpson, J. R. McMillan, J. McGrath, 2016, Journal of dermatological science.

Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex.

J. McGrath, J. Mellerio, Lu Liu, 2017, The Journal of investigative dermatology.

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.

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.

Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.

S. Banka, J. Mellerio, K. Chandler, 2022, The British journal of dermatology.

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

D. Kelsell, M. Simpson, M. Akiyama, 2017, The Journal of investigative dermatology.