Quantification of Phenotype Information Aids the Identification of Novel Disease Genes

Anneke T. Vulto-van Silfhout*, Christian Gilissen, Jelle J. Goeman, Sandra Jansen, Claudia J. M. van Amen-Hellebrekers, Bregje W. M. van Bon, David A. Koolen, Erik A. Sistermans, Han G. Brunner, Arjan P. M. de Brouwer, Bert B. A. de Vries

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)594-599
Number of pages6
JournalHuman Mutation
Volume38
Issue number5
DOIs
Publication statusPublished - May 2017

Keywords

  • phenotype features
  • de novo mutations
  • systematic phenotyping
  • statistical approach
  • intellectual disability
  • patient cohorts
  • DE-NOVO MUTATIONS
  • AUTISM SPECTRUM DISORDERS
  • INTELLECTUAL DISABILITY
  • DEVELOPMENTAL DELAY
  • IMPLICATE
  • DISCOVERY
  • ONTOLOGY

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