Stephen F Kingsmore

Summary

Affiliation: Children's Mercy Hospital
Country: USA

Publications

  1. doi request reprint Deep sequencing of patient genomes for disease diagnosis: when will it become routine?
    Stephen F Kingsmore
    National Center for Genome Resources, Santa Fe, NM 87505, USA
    Sci Transl Med 3:87ps23. 2011
  2. pmc Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing
    Stephen F Kingsmore
    Children s Mercy Hospital and Clinics, 2401 Gillham Road, Kansas City, MO 64108, USA
    Expert Rev Mol Diagn 11:855-68. 2011
  3. pmc Carrier testing for severe childhood recessive diseases by next-generation sequencing
    Callum J Bell
    National Center for Genome Resources, Santa Fe, NM 87505, USA
    Sci Transl Med 3:65ra4. 2011

Collaborators

  • Callum J Bell
  • Elena E Ganusova
  • Neil A Miller
  • Lu Zhang
  • Joann Mudge
  • Heather E Peckham
  • Gary P Schroth
  • Ray J Langley
  • Darrell L Dinwiddie
  • Vrunda Sheth
  • Jimmy E Woodward
  • Clarence C Lee
  • Shannon L Hateley
  • Faye D Schilkey
  • Ryan W Kim

Detail Information

Publications3

  1. doi request reprint Deep sequencing of patient genomes for disease diagnosis: when will it become routine?
    Stephen F Kingsmore
    National Center for Genome Resources, Santa Fe, NM 87505, USA
    Sci Transl Med 3:87ps23. 2011
    ..In this Perspective, we discuss whether and how genome sequencing might become routine for clinical diagnosis...
  2. pmc Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing
    Stephen F Kingsmore
    Children s Mercy Hospital and Clinics, 2401 Gillham Road, Kansas City, MO 64108, USA
    Expert Rev Mol Diagn 11:855-68. 2011
    ..These advances will be reviewed in the setting of a recently developed test for 592 autosomal recessive and X-linked diseases...
  3. pmc Carrier testing for severe childhood recessive diseases by next-generation sequencing
    Callum J Bell
    National Center for Genome Resources, Santa Fe, NM 87505, USA
    Sci Transl Med 3:65ra4. 2011
    ....