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 · 144 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

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 · 112 citations · Full text

Medicine, Clinical Sciences, Dermatology +14

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 · 90 citations · Full text

Medicine, Dermatology, Pathology +14

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 · 89 citations · Full text

Medicine, Dermatology, Molecular Genetics +17

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

Life Sciences, Genetics, Molecular Genetics +13