Mendelian disorders deserve more attention
Top Cited Papers
- 14 March 2006
- journal article
- review article
- Published by Springer Nature in Nature Reviews Genetics
- Vol. 7 (4) , 277-282
- https://doi.org/10.1038/nrg1826
Abstract
The study of inherited monogenic diseases has contributed greatly to our mechanistic understanding of pathogenic mutations and gene regulation, and to the development of effective diagnostic tools. But interest has gradually shifted away from monogenic diseases, which collectively affect only a small fraction of the world's population, towards multifactorial, common diseases. The quest for the genetic variability associated with common traits should not be done at the expense of Mendelian disorders, because the latter could still contribute greatly to understanding the aetiology of complex traits.Keywords
This publication has 59 references indexed in Scilit:
- Full-genome RNAi profiling of early embryogenesis in Caenorhabditis elegansNature, 2005
- Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disordersNucleic Acids Research, 2004
- The ENCODE (ENCyclopedia Of DNA Elements) ProjectScience, 2004
- Finishing the euchromatic sequence of the human genomeNature, 2004
- Human Gene Mutation Database (HGMD®): 2003 updateHuman Mutation, 2003
- Functional profiling of the Saccharomyces cerevisiae genomeNature, 2002
- Consanguinity and its relevance to clinical geneticsClinical Genetics, 2001
- Towards an understanding of the genetics of human male infertility: lessons from fliesTrends in Genetics, 2000
- OMIM passes the 1,000-disease-gene markNature Genetics, 2000
- A new dimension for the human genome project: towards comprehensive expression mapsNature Genetics, 1997