Linda Ozoemena

A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex

Richard Groves, Lu Liu, Patricia J.C. Dopping-Hepenstal et al. · Journal of Investigative Dermatology · 2010 · 145 citations · Full text

Skin Development, Coiled-coil Domain, Genetic Disorder +7

Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa

Ellie Rashidghamat, Tendai Kadiyirire, Salma Ayis et al. · Journal of the American Academy of Dermatology · 2019 · 109 citations · Full text

Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

Takuya Takeichi, L. Liu, Kenneth Fong et al. · British Journal of Dermatology · 2014 · 88 citations · Full text

Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa

Su M. Lwin, Farhatullah Syed, Wei‐Li Di et al. · JCI Insight · 2019 · 88 citations · Full text

Early Efficacy Outcomes, Immunology, Pathology +19

Complete Maternal Isodisomy of Chromosome 3 in a Child with Recessive Dystrophic Epidermolysis Bullosa but No Other Phenotypic Abnormalities

Hiva Fassihi, Lu Liu, Vesarat Wessagowit et al. · Journal of Investigative Dermatology · 2006 · 69 citations · Full text

Complete Maternal Isodisomy, Gynecology, Chromosome 3 +3