Stephen F Kingsmore

Stephen F Kingsmore

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Stephen F Kingsmore

Stephen F Kingsmore

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Neonatal diabetes mellitus due to a novel variant in the gene.

Cold Spring Harb Mol Case Stud 2019 Aug 1;5(4). Epub 2019 Aug 1.

Division of Pediatric Endocrinology, Department of Pediatrics, University of California, San Diego, La Jolla, California 92093, USA.

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http://dx.doi.org/10.1101/mcs.a004085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672029PMC
August 2019

Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage.

Cold Spring Harb Mol Case Stud 2018 12 17;4(6). Epub 2018 Dec 17.

Rady Children's Institute of Genomic Medicine, University of California, San Diego, California 92123, USA.

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http://dx.doi.org/10.1101/mcs.a003525DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318776PMC
December 2018

Concomitant diagnosis of immune deficiency and sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing.

Cold Spring Harb Mol Case Stud 2018 12 17;4(6). Epub 2018 Dec 17.

Division of Infectious Disease, Department of Pediatrics, UCSD, San Diego, California 92093, USA.

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http://dx.doi.org/10.1101/mcs.a003244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318772PMC
December 2018

Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.

PLoS Genet 2018 07 12;14(7):e1007394. Epub 2018 Jul 12.

Division of Human Genetics, Center for Prevention of Preterm Birth, Perinatal Institute, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, March of Dimes Prematurity Research Center Ohio Collaborative, Cincinnati, Ohio, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1007394DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6042692PMC
July 2018

Rapid whole-genome sequencing identifies a novel variant associated with autoimmune polyendocrine syndrome type 1.

Cold Spring Harb Mol Case Stud 2018 06 1;4(3). Epub 2018 Jun 1.

Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, California 92123, USA.

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http://dx.doi.org/10.1101/mcs.a002485DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983174PMC
June 2018

Rapid whole-genome sequencing identifies a novel variant associated with West syndrome.

Cold Spring Harb Mol Case Stud 2017 Sep 1;3(5). Epub 2017 Sep 1.

Rady Children's Institute of Genomic Medicine (RCIGM), San Diego, California 92123, USA.

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http://dx.doi.org/10.1101/mcs.a001776DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5593154PMC
September 2017

Cerebral Palsy and Polymorphism of the Chemokine CCL18 in Very Preterm Children.

Neonatology 2015 20;108(2):124-9. Epub 2015 Jun 20.

PEDEGO Research Center, and Medical Research Center Oulu, University of Oulu, Oulu, Finland.

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https://www.karger.com/Article/FullText/430765
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http://dx.doi.org/10.1159/000430765DOI Listing
May 2016

Newborn testing and screening by whole-genome sequencing.

Genet Med 2016 Mar 17;18(3):214-6. Epub 2015 Dec 17.

Rady Pediatric Genomics and Systems Medicine Institute, Rady Children's Hospital, San Diego, California, USA.

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http://dx.doi.org/10.1038/gim.2015.172DOI Listing
March 2016

Rapid whole genome sequencing and precision neonatology.

Semin Perinatol 2015 Dec 29;39(8):623-31. Epub 2015 Oct 29.

Rady Pediatric Genomics and Systems Medicine Institute, Rady Children's Hospital, San Diego, CA; Department of Pathology and Laboratory Medicine, Center for Pediatric Genomic Medicine, Children's Mercy Hospital Kansas City, Kansas City, MO.

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http://dx.doi.org/10.1053/j.semperi.2015.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4657860PMC
December 2015

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders.

Cold Spring Harb Perspect Med 2015 Dec 18;6(2):a023168. Epub 2015 Dec 18.

Department of Pediatrics, The University of Missouri-Kansas City School of Medicine, Kansas City, Missouri 64108 Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, Missouri 64108.

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http://perspectivesinmedicine.cshlp.org/lookup/doi/10.1101/c
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http://dx.doi.org/10.1101/cshperspect.a023168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743073PMC
December 2015

A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.

J Gen Physiol 2015 Nov;146(5):399-410

Department of Neurobiology, Physiology and Behavior, Department of Physiology and Membrane Biology, and Department of Anesthesiology and Pain Medicine, University of California, Davis, Davis, CA 95616 Department of Neurobiology, Physiology and Behavior, Department of Physiology and Membrane Biology, and Department of Anesthesiology and Pain Medicine, University of California, Davis, Davis, CA 95616

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http://dx.doi.org/10.1085/jgp.201511444DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4621747PMC
November 2015

CXCR3 Polymorphism and Expression Associate with Spontaneous Preterm Birth.

J Immunol 2015 Sep 24;195(5):2187-98. Epub 2015 Jul 24.

PEDEGO Research Center and Medical Research Center Oulu, University of Oulu, 90014 Oulu, Finland; Department of Children and Adolescents, Oulu University Hospital, 90029 Oulu, Finland;

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http://dx.doi.org/10.4049/jimmunol.1501174DOI Listing
September 2015

Emergency medical genomes: a breakthrough application of precision medicine.

Genome Med 2015 30;7(1):82. Epub 2015 Jul 30.

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 ; Division of Hematology and Oncology, Children's Mercy - Kansas City, Kansas City, MO 64108 USA.

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http://genomemedicine.com/content/7/1/82
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http://dx.doi.org/10.1186/s13073-015-0201-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520148PMC
August 2015

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.

Lancet Respir Med 2015 May 27;3(5):377-87. Epub 2015 Apr 27.

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; Department of Pathology, Children's Mercy-Kansas City, Kansas City, MO, USA; School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri 64108, USA. Electronic address:

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http://dx.doi.org/10.1016/S2213-2600(15)00139-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479194PMC
May 2015

Polymorphisms of the gene encoding Kit ligand are associated with bronchopulmonary dysplasia.

Pediatr Pulmonol 2015 Mar 9;50(3):260-270. Epub 2014 Mar 9.

Department of Pediatrics, Institute of Clinical Medicine, and Medical Research Center Oulu, University of Oulu, Oulu, Finland.

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http://dx.doi.org/10.1002/ppul.23018DOI Listing
March 2015

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

Sci Transl Med 2014 Dec;6(265):265ra168

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. Department of Pathology, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.

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http://dx.doi.org/10.1126/scitranslmed.3010076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4286868PMC
December 2014

Utility of next generation sequencing in clinical primary immunodeficiencies.

Curr Allergy Asthma Rep 2014 Oct;14(10):468

Children's Mercy Hospital, 2401 Gillham Road, Kansas City, MO, 64108, USA,

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http://dx.doi.org/10.1007/s11882-014-0468-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4582650PMC
October 2014

Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing.

Genomics 2013 Nov-Dec;102(5-6):442-7. Epub 2013 Aug 31.

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. Electronic address:

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http://dx.doi.org/10.1016/j.ygeno.2013.08.008DOI Listing
July 2014

Next-generation community genetics for low- and middle-income countries.

Genome Med 2012 29;4(3):25. Epub 2012 Mar 29.

Center for Pediatric Genomic Medicine, Children's Mercy Hospitals and Clinics, 2401 Gilham Road, Kansas City, MO 64108, USA.

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http://genomemedicine.biomedcentral.com/articles/10.1186/gm3
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http://dx.doi.org/10.1186/gm324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446275PMC
May 2014

Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism.

Orphanet J Rare Dis 2013 Oct 17;8:168. Epub 2013 Oct 17.

Department of Experimental and Clinical Sciences, Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1186/1750-1172-8-168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3856608PMC
October 2013

Perinatal immunoproteins predict the risk of cerebral palsy in preterm children.

Ann Med 2013 Feb 31;45(1):57-65. Epub 2011 Oct 31.

Department of Pediatrics, Institute of Clinical Medicine, University of Oulu, FIN-90014 Oulu, Finland.

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http://dx.doi.org/10.3109/07853890.2011.625970DOI Listing
February 2013

Umbilical artery chemokine CCL16 is associated with preterm preeclampsia and fetal growth restriction.

Cytokine 2012 Nov 2;60(2):377-84. Epub 2012 Aug 2.

Department of Obstetrics and Gynecology, University of Oulu, FIN-90014 Oulu, Finland.

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http://dx.doi.org/10.1016/j.cyto.2012.07.008DOI Listing
November 2012

Ethical considerations associated with clinical use of next-generation sequencing in children.

J Pediatr 2011 Dec;159(6):879-80.e1

Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Children's Mercy Hospitals and Clinics, Kansas City, MO 64108, USA.

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http://dx.doi.org/10.1016/j.jpeds.2011.07.035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078977PMC
December 2011

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing.

Expert Rev Mol Diagn 2011 Nov;11(8):855-68

Children's Mercy Hospital & Clinics, 2401 Gillham Road, Kansas City, MO 64108, USA.

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http://dx.doi.org/10.1586/erm.11.70DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3740118PMC
November 2011

Development of a phylogenetic tree model to investigate the role of genetic mutations in endometrial tumors.

Oncol Rep 2011 May 14;25(5):1447-54. Epub 2011 Feb 14.

Department of Mathematics and Statistics, University of New Mexico, Albuquerque, NM 87131, USA.

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http://www.spandidos-publications.com/or/25/5/1447
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http://dx.doi.org/10.3892/or.2011.1186DOI Listing
May 2011

Cord blood chemokines differentiate between spontaneous and elective preterm births in singleton pregnancies.

Cytokine 2011 Apr 1;54(1):85-91. Epub 2011 Feb 1.

Department of Pediatrics, University of Oulu, Finland.

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http://dx.doi.org/10.1016/j.cyto.2011.01.002DOI Listing
April 2011

Chemokine CCL18 predicts intraventricular hemorrhage in very preterm infants.

Ann Med 2010 Sep;42(6):416-25

Institute of Clinical Medicine, Department of Pediatrics, University of Oulu, FIN-90014, Oulu, Finland.

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http://dx.doi.org/10.3109/07853890.2010.481085DOI Listing
September 2010

Molecular dynamic simulations of the metallo-beta-lactamase from Bacteroides fragilis in the presence and absence of a tight-binding inhibitor.

J Mol Model 2009 Feb 28;15(2):133-45. Epub 2008 Nov 28.

Department of Physics, Wake Forest University, Winston Salem, NC 27109, USA.

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http://link.springer.com/10.1007/s00894-008-0410-0
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http://dx.doi.org/10.1007/s00894-008-0410-0DOI Listing
February 2009

Alternative isoform regulation in human tissue transcriptomes.

Nature 2008 Nov;456(7221):470-6

Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA.

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http://dx.doi.org/10.1038/nature07509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2593745PMC
November 2008

Genome-wide association studies: progress and potential for drug discovery and development.

Nat Rev Drug Discov 2008 Mar;7(3):221-30

National Center for Genome Resources, 2935 Rodeo Park Drive East, Santa Fe, New Mexico 87505, USA.

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http://dx.doi.org/10.1038/nrd2519DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2853477PMC
March 2008

Transcriptome sequencing of malignant pleural mesothelioma tumors.

Proc Natl Acad Sci U S A 2008 Mar 26;105(9):3521-6. Epub 2008 Feb 26.

International Mesothelioma Program, Division of Thoracic Surgery, Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.

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http://dx.doi.org/10.1073/pnas.0712399105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2265129PMC
March 2008

Genome-wide association studies: progress in identifying genetic biomarkers in common, complex diseases.

Biomark Insights 2007 Aug 8;2:283-92. Epub 2007 Aug 8.

National Center for Genome Resources, Santa Fe, NM 87505, U.S.A.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2717811PMC
August 2007

Cytokine expression patterns associated with systemic adverse events following smallpox immunization.

J Infect Dis 2006 Aug 13;194(4):444-53. Epub 2006 Jul 13.

Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232, USA.

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http://dx.doi.org/10.1086/505503DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1620015PMC
August 2006

Multiplexed protein measurement: technologies and applications of protein and antibody arrays.

Nat Rev Drug Discov 2006 Apr;5(4):310-20

National Center for Genome Resources, Santa Fe, New Mexico 87505, USA.

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http://www.nature.com/articles/nrd2006
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http://dx.doi.org/10.1038/nrd2006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1780251PMC
April 2006

Sepsis progression and outcome: a dynamical model.

Theor Biol Med Model 2006 Feb 15;3. Epub 2006 Feb 15.

DFA Capital Ltd/AG, Norbertstr, 29, D-50670, Cologne, Germany.

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http://dx.doi.org/10.1186/1742-4682-3-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1420276PMC
February 2006

Multiplexed protein profiling on antibody-based microarrays by rolling circle amplification.

Curr Opin Biotechnol 2003 Feb;14(1):74-81

Molecular Staging Inc., 300 George Street, New Haven, CT 06511, USA.

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February 2003

Measuring proteins on microarrays.

Curr Opin Biotechnol 2002 Feb;13(1):14-9

Molecular Staging Inc., 300 George Street, Suite 701, New Haven, CT 06511, USA.

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February 2002