Advances in genetics

  • 1  Leech SN, Moss CA. Current and online genodermatosis database. Br J Dermatol 2007;156:1115–48. Cross Ref link Pubmed link
  • 2  Takeichi T, Nanda A, Liu L, et al. Impact of next generation sequencing on diagnostics in a genetic skin disease clinic. Exp Dermatol 2013;22:825‐31. Cross Ref link Pubmed link
  • 3  McLean WH, Irvine AD. Heritable filaggrin disorders: the paradigm of atopic dermatitis. J Invest Dermatol 2012;132(E1):E20–1. Cross Ref link Pubmed link
  • 4  International Human Genome Sequencing Consortium. Initial sequencing of the human genome. Nature 2001;409:860–921. Cross Ref link Pubmed link
  • 5  Qu H, Fang X. A brief review on the Human Encyclopedia of DNA Elements (ENCODE) project. Genomics Proteomics Bioinformatics 2013;11:135–41. Cross Ref link Pubmed link

Nosology and principles of medical genetics

  • 6  Schaffer JV. Molecular diagnostics in genodermatoses. Semin Cutan Med Surg 2012;31:211–20. Cross Ref link Pubmed link
  • 7  Brown SJ, Kroboth K, Sandilands A, et al. Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose‐dependent effect. J Invest Dermatol 2012;132:98–104. Cross Ref link Pubmed link
  • 8  Delhanty JD. Mechanisms of aneuploidy induction in human oogenesis and early embryogenesis. Cytogenet Genome Res 2005;111:237–44. Cross Ref link Pubmed link
  • 9  Lawson HA, Cheverud JM, Wolf JB. Genomic imprinting and parent‐of‐origin effects on complex traits. Nat Rev Genet 2013;14:609–17. Cross Ref link Pubmed link
  • 10  Cheng JB, Cho RJ. Genetics and epigenetics of the skin meet deep sequence. J Invest Dermatol 2012;132:923–32. Cross Ref link Pubmed link
  • 11  Friedman JR, Nunnari J. Mitochondrial form and function. Nature 2014;505:335–43. Cross Ref link Pubmed link

Mutations and disease

  • 12  Riegel M. Human molecular cytogenetics:From cells to nucleotides. Genet Mol Biol 2014;37(Suppl. 1):194–209. Cross Ref link Pubmed link
  • 13  Haraksingh RR, Snyder MP. Impacts of variation in the human genome on gene regulation. J Mol Biol 2013;425:3970–7. Cross Ref link Pubmed link
  • 14  Bataille V, Lens M, Spector TD. The use of the twin model to investigate the genetics and epigenetics of skin diseases with genomic, transcriptomic and methylation data. J Eur Acad Dermatol Venereol 2012;26:1067–73. Cross Ref link Pubmed link
  • 15  Illing PT, Vivian JP, Purcell AW, et al. Human leukocyte antigen‐associated drug hypersensitivity. Curr Opin Immunol 2013;25:81–9. Cross Ref link Pubmed link
  • 16  Shornick JK. Herpes gestationis. Dermatol Clin 1993;11:527–33. Pubmed link

Mosaicism, Lyonization and the lines of Blaschko

  • 17  Vreeburg M, van Steensel MA. Genodermatoses caused by genetic mosaicism. Eur J Pediatr 2012;171:1725–35. Cross Ref link Pubmed link
  • 18  Molho‐Pessach V, Schaffer JV. Blaschko lines and other patterns of cutaneous mosaicism. Clin Dermatol 2011;29:205–25. Cross Ref link Pubmed link
  • 19  Blaschko A. Die Nervenverteilung in der Haut in Ihrer Beziehung Zu Den Erkrankungen der Haut. Vienna, Leipzig: Braumuller, 1901.
  • 20  Happle R. Mosaicism in human skin: understanding the pattern and mechanisms. Arch Dermatol 1993;129:1460–70. Cross Ref link Pubmed link
  • 21  Lyon MF. Sex chromatin and gene action in the mammalian X‐chromosome. Am J Hum Genet 1962;14:135–48. Pubmed link
  • 22  Pasmooij AM, Jonkman MF, Uitto J. Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy. Discov Med 2012;14:167–79. Pubmed link

Genome sequence and analysis of inherited disorders

  • 23  Zhang X. Genome‐wide association study of skin complex diseases. J Dermatol Sci 2012;66:89–97. Cross Ref link Pubmed link
  • 24  Stern DL. The genetic causes of convergent evolution. Nat Rev Genet 2013;14:751–64. Cross Ref link Pubmed link
  • 25  Mardis ER. Next‐generation sequencing platforms. Annu Rev Anal Chem (Palo Alto Calif) 2013;6:287–303. Cross Ref link Pubmed link
  • 26  Salam A, Simpson MA, Stone KL, et al. Next generation diagnostics of heritable connective tissue disorders. Matrix Biol 2014;33:35–40. Cross Ref link Pubmed link

Prenatal diagnosis

  • 27  Rodeck CH, Eady RA, Gosden CM. Prenatal diagnosis of epidermolysis bullosa letalis. Lancet 1980;i:949–52. Cross Ref link
  • 28  Eady RA, Gunner DB, Tidman MJ, et al. Rapid processing of fetal skin for prenatal diagnosis by light and electron microscopy. J Clin Pathol 1984;37:633–8. Cross Ref link Pubmed link
  • 29  Heagerty AH, Kennedy AR, Gunner DB, et al. Rapid prenatal diagnosis and exclusion of epidermolysis bullosa using novel antibody probes. J Invest Dermatol 1986;86:603–5. Cross Ref link Pubmed link
  • 30  Fassihi H, Eady RA, Mellerio JE, et al. Prenatal diagnosis for severe inherited skin disorders:25 years' experience. Br J Dermatol 2006;154:106–13. Cross Ref link Pubmed link
  • 31  Fassihi H, Wessagowit V, Ashton GH, et al. Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa. Clin Exp Dermatol 2005;30:71–4. Cross Ref link Pubmed link
  • 32  McGrath JA, Handyside AH. Preimplantation genetic diagnosis of severe inherited skin diseases. Exp Dermatol 1998;7:65–72. Cross Ref link Pubmed link
  • 33  Thornhill AR, Pickering SJ, Whittock NV, et al. Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin‐1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report. Prenat Diagn 2000;20:1055–62. Cross Ref link Pubmed link
  • 34  Fassihi H, Liu L, Renwick PJ, et al. Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa. Br J Dermatol 2010;162:1330–6. Cross Ref link Pubmed link
  • 35  Hui L, Bianchi DW. Recent advances in the prenatal interrogation of the human fetal genome. Trends Genet 2013;29:84–91. Cross Ref link Pubmed link