Finding genes involved in human developmental disorders

This publication has 74 references indexed in Scilit:

• Fibroblast-growth-factor receptor mutations in human skeletal disorders
  Trends in Genetics, 1995
• Positional cloning moves from perditional to traditional
  Nature Genetics, 1995
• Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
  Nature Genetics, 1995
• From mutation mapping to phenotype cloning.
  Proceedings of the National Academy of Sciences, 1995
• A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1
  Science, 1994
• Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
  Nature, 1994
• Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
  Published by Elsevier ,1994
• A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
  Cell, 1993
• Positional cloning: Let's not call it reverse anymore
  Nature Genetics, 1992
• Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping
  Science, 1989