Mellerio, Jemima Elizabeth

Top Publications

Top Publications Authored or Co-Authored by "Mellerio, Jemima Elizabeth"

• Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)

  Human Molecular Genetics, Volume 11, No. 7, Year 2002, Citations 277
• Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa

  Acta Dermato-Venereologica, Volume 91, No. 3, Year 2011, Citations 61
• Homozygous mutations in the 5′ region of the JUP gene result in cutaneous disease but normal heart development in children

  Journal of Investigative Dermatology, Volume 130, No. 6, Year 2010, Citations 54
• Multidisciplinary care of epidermolysis bullosa during the COVID-19 pandemic—Consensus: Recommendations by an international panel of experts

  Journal of the American Academy of Dermatology, Volume 83, No. 4, Year 2020, Citations 44
• Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis

  Journal of Investigative Dermatology, Volume 140, No. 6, Year 2020, Citations 12