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 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
  3. 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
  4. pmc Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings
    Laurel K Willig
    Center for Pediatric Genomic Medicine, Children s Mercy Kansas City, Kansas City, MO, USA Department of Pediatrics, Children s Mercy Kansas City, Kansas City, MO, USA School of Medicine, University of Missouri Kansas City, Kansas City, Missouri 64108, USA
    Lancet Respir Med 3:377-87. 2015
  5. 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
  6. pmc Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
    Sarah E Soden
    Center for Pediatric Genomic Medicine, Children s Mercy Kansas City, Kansas City, MO 64108, USA Department of Pediatrics, Children s Mercy Kansas City, Kansas City, MO 64108, USA School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA
    Sci Transl Med 6:265ra168. 2014
  7. pmc 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
  8. 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
  9. pmc A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
    Neil A Miller
    Center for Pediatric Genomic Medicine, Children s Mercy, 2401 Gilham Road, Kansas City, MO, 64108, USA
    Genome Med 7:100. 2015
  10. pmc A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization
    Isabelle Thiffault
    Center for Pediatric Genomic Medicine, Department of Pathology and Laboratory Medicine, and Department of Pediatrics, Children s Mercy Hospital, Kansas City, MO 64108
    J Gen Physiol 146:399-410. 2015

Collaborators

  • Darrell L Dinwiddie
  • Lu Zhang
  • Isabelle Thiffault
  • Neil A Miller
  • Carol J Saunders
  • Laurel K Willig
  • Emily G Farrow
  • Greyson Twist
  • Sarah E Soden
  • Laurie D Smith
  • Josh E Petrikin
  • Lee Zellmer
  • Nikita Raje
  • Lauren Grote
  • Julie A Cakici
  • Nicole P Safina
  • Neil Miller
  • Mitchell Creed
  • Aaron Noll
  • Sarah Soden
  • Suzanne Herd
  • Laura Dotta
  • Callum J Bell
  • Byunggil Yoo
  • Janda Jenkins
  • Mike Ruehle
  • Jon T Sack
  • Ryan T Fischer
  • Shane Corder
  • Daniel C Austin
  • Carol Saunders
  • Howard Kilbride
  • David J Speca
  • Ryan J McDonough
  • Mark A Clements
  • Melanie M Cobb
  • Margaret Gibson
  • Patria M Alba
  • Holly I Welsh
  • Severine Catreux
  • Lisa Krivohlavek
  • J Allyson Hays
  • James S Trimmer
  • Mukta Sharma
  • Shannon L Carpenter
  • Emily Farrow
  • Tyler Marrs
  • Sarah L Tsai
  • Adam Walter
  • Jamie L Rosterman
  • David Zwick
  • Suzanne M Herd
  • Kristi Canty
  • Kenneth S Eum
  • Xuan Yuan
  • Ann Modrcin
  • Ahmed T Abdelmoity
  • Ingrid A Larson
  • Nicole Safina
  • Sarah S Nyp
  • Andrea M Atherton
  • Zhaohui Ye
  • Bryce A Heese
  • Jean Baptiste Lepichon
  • Robert A Brodsky
  • Christina E Ciaccio
  • Britton Zuccarelli
  • Douglas Swanson
  • Silvia Parolini
  • Maddalena Antolini
  • Alberto Prandini
  • Raffaele Badolato
  • Giovanna Tabellini
  • Heather E Peckham
  • Faye D Schilkey
  • Gary P Schroth
  • Vrunda Sheth
  • Elena E Ganusova
  • Clarence C Lee
  • Shannon L Hateley
  • Ryan W Kim
  • Ray J Langley
  • Joann Mudge
  • Jimmy E Woodward

Detail Information

Publications14

  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 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...
  3. 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...
  4. pmc Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings
    Laurel K Willig
    Center for Pediatric Genomic Medicine, Children s Mercy Kansas City, Kansas City, MO, USA Department of Pediatrics, Children s Mercy Kansas City, Kansas City, MO, USA School of Medicine, University of Missouri Kansas City, Kansas City, Missouri 64108, USA
    Lancet Respir Med 3:377-87. 2015
    ....
  5. 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...
  6. pmc Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
    Sarah E Soden
    Center for Pediatric Genomic Medicine, Children s Mercy Kansas City, Kansas City, MO 64108, USA Department of Pediatrics, Children s Mercy Kansas City, Kansas City, MO 64108, USA School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA
    Sci Transl Med 6:265ra168. 2014
    ..It is suggested that initial diagnostic evaluation of children with NDD should include trio WGS or WES, with extension of accelerated sequencing modalities to high-acuity patients. ..
  7. pmc 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. ..
  8. 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...
  9. pmc A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
    Neil A Miller
    Center for Pediatric Genomic Medicine, Children s Mercy, 2401 Gilham Road, Kansas City, MO, 64108, USA
    Genome Med 7:100. 2015
    ..5 % sensitivity and specificity of genotypes. STATseq appears to be an appropriate strategy for acutely ill patients with potentially actionable genetic diseases. ..
  10. pmc A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization
    Isabelle Thiffault
    Center for Pediatric Genomic Medicine, Department of Pathology and Laboratory Medicine, and Department of Pediatrics, Children s Mercy Hospital, Kansas City, MO 64108
    J Gen Physiol 146:399-410. 2015
    ..In addition to electrophysiological differences, we suggest that defects in expression and subcellular localization of Kv2.1 V378A channels could contribute to the pathophysiology of this KCNB1 variant...
  11. pmc A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes
    Isabelle Thiffault
    Center for Pediatric Genomic Medicine, Children s Mercy Hospital, Kansas City, MO, 64108, USA
    BMC Med Genet 16:31. 2015
    ..Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage, often leading to immunodeficiency, growth retardation and increased risk of malignancy...
  12. pmc Utility of next generation sequencing in clinical primary immunodeficiencies
    Nikita Raje
    Children s Mercy Hospital, 2401 Gillham Road, Kansas City, MO, 64108, USA
    Curr Allergy Asthma Rep 14:468. 2014
    ..Given that treatment of PID varies by disease gene, early achievement of a molecular diagnosis is likely to enhance treatment decisions and improve patient outcomes...
  13. 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
    ....