History regarding the description of sequence variations

Publications on the description of sequence changes

• 1993
  • Beaudet AL, Tsui LC (1993). A suggested nomenclature for designating mutations. Hum.Mutat. 2 (4): 245-248. PMID:8401532..
  • Beutler E (1993). The designation of mutations. Am.J.Hum.Genet. 53 (3): 783-785. PMID:8352285..
• 1994
  • Antonarakis SE, McKusick VA (1994). Discussion on mutation nomenclature. Hum.Mutat. 4 (2): 166. PMID:7981723..
• 1996
  • Ad Hoc Committee on Mutation Nomenclature (1996). Update on nomenclature for human gene mutations. Hum.Mutat. 8 (3): 197-202. PMID:8889576..
  • Beutler E, McKusick VA, Motulsky AG, Scriver CR, Hutchinson F (1996). Mutation nomenclature: nicknames, systematic names, and unique identifiers. Hum.Mutat. 8 (3): 203-206. PMID:8889577..
• 1998
  • Antonarakis SE (1998). Recommendations for a nomenclature system for human gene mutations. Hum.Mutat. 11 (1): 1-3. PMID:9450896..
    Original discussion document.
• 2000
  • den Dunnen JT, Antonarakis SE (2000). Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum.Mutat. 15 (1): 7-12. PMID:10612815.
    A modified version of this paper was published as; den Dunnen JT, Antonarakis SE (2001). Nomenclature for the description of human sequence variations. Hum.Genet. 109 (1): 121-124. PMID:11479744.
• 2003
  • den Dunnen JT (2003). Mutation nomenclature. Nature Encyclopedia of the Human Genome 211-214.
• 2003
  • den Dunnen JT, Antonarakis SE (2003). Mutation nomenclature. Current Protocols in Human Genetics 7.13.1-7.13.8.
• 2004
  • den Dunnen JT, Paalman MH (2004). Standardizing mutation nomenclature: why bother?. Hum.Mutat. 22 (3): 181-182. PMID:12938082.