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 De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies
    Darrell L Dinwiddie
    Center for Pediatric Genomic Medicine, Children s Mercy Hospital, Kansas City, MO 64108, USA
    BMC Med Genomics 6:32. 2013
  4. doi request reprint Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome
    Darrell L Dinwiddie
    Center for Pediatric Genomic Medicine, Children s Mercy Hospital, Kansas City, MO 64108, USA
    Genomics 102:148-56. 2013
  5. doi request reprint Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing
    Darrell L Dinwiddie
    Center for Pediatric Genomic Medicine, Children s Mercy Hospital, Kansas City, MO 64108, USA Department of Pediatrics, Children s Mercy Hospital, Kansas City, MO 64108, USA Department of Pathology, Children s Mercy Hospital, Kansas City, MO 64108, USA School of Medicine, University of Missouri Kansas City, Kansas City, MO 64110, USA Department of Pediatrics, University of New Mexico Health Science Center, Albuquerque, NM 87131, USA Clinical Translational Science Center, University of New Mexico, Albuquerque, NM 87131, USA Electronic address
    Genomics 102:442-7. 2013
  6. 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

  • Lu Zhang
  • Darrell L Dinwiddie
  • Neil A Miller
  • Sarah E Soden
  • Carol J Saunders
  • Emily G Farrow
  • Laurie D Smith
  • Callum J Bell
  • Vivekanand Singh
  • Charles C Roberts
  • Kathy Christenson
  • Andrea M Atherton
  • Jignesh Dalal
  • Julia M Bracken
  • Julie A Bass
  • Meghan E Strenk
  • David L Zwick
  • Elena E Ganusova
  • Joann Mudge
  • Heather E Peckham
  • Gary P Schroth
  • Ray J Langley
  • Vrunda Sheth
  • Jimmy E Woodward
  • Clarence C Lee
  • Shannon L Hateley
  • Faye D Schilkey
  • Ryan W Kim

Detail Information

Publications7

  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 De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies
    Darrell L Dinwiddie
    Center for Pediatric Genomic Medicine, Children s Mercy Hospital, Kansas City, MO 64108, USA
    BMC Med Genomics 6:32. 2013
    ..In particular, whole exome and genome sequencing of families has been particularly useful in discovering de novo germline mutations as the cause of both rare diseases and complex disorders...
  4. doi request reprint Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome
    Darrell L Dinwiddie
    Center for Pediatric Genomic Medicine, Children s Mercy Hospital, Kansas City, MO 64108, USA
    Genomics 102:148-56. 2013
    ..We suggest that additional studies should be conducted to evaluate exome sequencing as a primary diagnostic test for mitochondrial diseases, including those due to mtDNA mutations. ..
  5. doi request reprint Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing
    Darrell L Dinwiddie
    Center for Pediatric Genomic Medicine, Children s Mercy Hospital, Kansas City, MO 64108, USA Department of Pediatrics, Children s Mercy Hospital, Kansas City, MO 64108, USA Department of Pathology, Children s Mercy Hospital, Kansas City, MO 64108, USA School of Medicine, University of Missouri Kansas City, Kansas City, MO 64110, USA Department of Pediatrics, University of New Mexico Health Science Center, Albuquerque, NM 87131, USA Clinical Translational Science Center, University of New Mexico, Albuquerque, NM 87131, USA Electronic address
    Genomics 102:442-7. 2013
    ..Exome sequencing can be an effective tool to aid in the molecular diagnosis of pediatric-onset IBD. We provide additional evidence of the safety and benefit of HSCT for patients with IBD due to mutations in the IL10RA gene...
  6. 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
    ....