Dopping-Hepenstal, Patricia J.C.

Top Publications

Top Publications Authored or Co-Authored by "Dopping-Hepenstal, Patricia J.C."

• 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
• Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

  Nature Genetics, Volume 44, No. 11, Year 2012, Citations 70
• 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