SEARCH

SEARCH BY CITATION

REFERENCES

  • Antonarakis SE, the Nomenclature Working Group. 1998. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11:13.
  • Baird PA, Anderson TW, Newcombe HB, Lowry RB. 1988. Genetic disorders in children and young adults: a population study. Am J Med Genet 42:677693.
  • Claustres M, Horaitis O, Vanevski M, Cotton RGH. 2002. Time for a unified system of mutation description and reporting: a review of locus specific mutation databases. Genome Res 12:680688.
  • Cotton RGH. 2000. Progress of the HUGO Mutation Database Initiative: a brief introduction to the Human Mutation MDI Special Issue. Hum Mutat 15:46.
  • Cotton RGH, Scriver CR. 1998. Proof of “disease causing” mutation. Hum Mutat 12:13.
  • Cotton RGH, Horaitis O. 2000. Quality control in the discovery, reporting, and recording of genomic variation. Hum Mutat 15:1621.
  • Cotton RGH, Horaitis O. 2003. Mutation databases and ethical considerations. In: KnoppersBM, editor. Populations and genetics: legal and socio-ethical perspectives. Leiden/Boston: Martinus Nijhoff Publishers. pp 169178.
  • Czeizel A, Sankaranarayanan K. 1984. The load of genetic and partially genetic disorders in man. Mutat Res 128:73103.
  • den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 22:181182.
  • den Dunnen JT, Paalman MH. 2003. Standardizing mutation nomenclature: why bother? Hum Mutat 15:712.
  • Fredman D, Siegfried M, Yuan YP, Bork P, Lehväslaiho H, Brookes AJ. 2002. HGVbase: a human sequence variation database emphasizing data quality and a broad spectrum of data sources. Nucleic Acid Res 30:387391.
  • Hamosh A, Scott AF, Amberger J, Valle D, McKusick VA. 2000. Online Mendelian Inheritance In Man (OMIM). Hum Mutat 15:5761.
  • Hardison RC, Chui DH, Giardine B, Riemer C, Patrinos GP, Anagnou N, Miller W, Wajcman H. 2002. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat 19:225233.
  • Horaitis O, Scriver CR, Cotton RGH. 2001. Chapter 1, appendix 1-2, locus-specific mutation databases. In: ScriverCR, BeaudetAL, SlyWS, ValleD, editors. The metabolic and molecular bases of inherited disease, 8th edition. McGraw Hill. pp 113125.
  • Horaitis O, Cotton RGH. 2003. Human Mutation Databases. In: Current protocols in Human genetics. New York: Wiley-Liss. 7.11.17.11.12.
  • Huisman THJ, Carver MFH, Efremov GD. 1976. A syllabus of human hemoglobin variants. Atlanta, GA: The Sickle Cell Anemia Foundation.
  • Najmabadi H, Neishabury M, Sahebjam F, Kahrizi K, Shafaghati Y, Nikzat N, Jalalvand M, Aminy F, Hashemi SB, Moghimi B, Noorian AR, Jannati A, Mohammadi M, Javan K. 2003. The Iranian Human Mutation Gene Bank: a data and sample resource for worldwide collaborative genetics research. Hum Mutat 21:146150.
  • Scriver CR, Nowacki PM, Lehvaslaiho H. 1999. Guidelines and recommendations for content, structure and deployment of mutation databases. Hum Mutat 13:344350.
  • Scriver CR, Nowacki PM, Lehväslaiho H. 2000. Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress. Hum Mutat 15:1315.
  • Sipilä K, Aula P. 2002. Database for the mutations of the Finnish disease heritage. Hum Mutat 19:1622.
  • Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN. 2003. Human Gene Mutation Database (HGMD®): 2003 update. Hum Mutat 21:577581.
  • Teebi AS, Teebi SA, Porter CJ, Cuticchia AJ. 2002. Arab genetic disease database (AGDDB): a population-specific clinical and mutation database. Hum Mutat 19:615621.