Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly

Nicholas Raun, Janette Mailo, Egidio Spinelli, Xu He, Sarah McAvena, Logan Brand, Julia O'Sullivan, John Andersen, Lawrence Richer, Richard Tang-Wai, Francois V. Bolduc

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)972-977
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume173
Issue number4
DOIs
StatePublished - Apr 1 2017
Externally publishedYes

ASJC Scopus Subject Areas

  • Genetics
  • Genetics(clinical)

Keywords

  • 1q43 deletion
  • AKT3
  • HNRNPU
  • TP53
  • microcephaly
  • Chromosome Deletion
  • NLR Family, Pyrin Domain-Containing 3 Protein/genetics
  • Humans
  • Computational Biology
  • Male
  • Histone-Lysine N-Methyltransferase/genetics
  • Gene Regulatory Networks
  • Kinesins/genetics
  • Proto-Oncogene Proteins c-akt/genetics
  • DNA Copy Number Variations
  • Heterogeneous-Nuclear Ribonucleoprotein U/genetics
  • Chromosomes, Human, Pair 1/chemistry
  • Phenotype
  • Microcephaly/diagnosis
  • Intellectual Disability/diagnosis
  • Child

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