Stephen F Kingsmore

Summary

Affiliation: Children's Mercy Hospital
Country: USA

Publications

  1. pmc Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism
    Laura Dotta
    Department of Experimental and Clinical Sciences, Institute of Molecular Medicine Angelo Nocivelli, University of Brescia, Brescia, Italy
    Orphanet J Rare Dis 8:168. 2013
  2. 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
  3. pmc 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
  4. 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
  5. ncbi 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
  6. ncbi 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
  7. 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
  • Laurie D Smith
  • Laura Dotta
  • Emily G Farrow
  • Callum J Bell
  • Julia M Bracken
  • Charles C Roberts
  • Meghan E Strenk
  • Maddalena Antolini
  • David L Zwick
  • Julie A Bass
  • Andrea M Atherton
  • Alberto Prandini
  • Jignesh Dalal
  • Raffaele Badolato
  • Vivekanand Singh
  • Giovanna Tabellini
  • Kathy Christenson
  • Silvia Parolini
  • Gary P Schroth
  • Jimmy E Woodward
  • Shannon L Hateley
  • Elena E Ganusova
  • Clarence C Lee
  • Ray J Langley
  • Faye D Schilkey
  • Vrunda Sheth
  • Heather E Peckham
  • Ryan W Kim
  • Joann Mudge

Detail Information

Publications8

  1. pmc Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism
    Laura Dotta
    Department of Experimental and Clinical Sciences, Institute of Molecular Medicine Angelo Nocivelli, University of Brescia, Brescia, Italy
    Orphanet J Rare Dis 8:168. 2013
    ..This review describes the molecular and pathogenetic mechanisms of these diseases, focusing on clinical and biochemical aspects that allow early differential diagnosis...
  2. 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...
  3. pmc 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...
  4. 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...
  5. ncbi 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. ..
  6. ncbi 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...
  7. 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
    ....