Joseph Glessner

Summary

Affiliation: The Children's Hospital of Philadelphia
Country: USA

Publications

  1. pmc ParseCNV integrative copy number variation association software with quality tracking
    Joseph T Glessner
    Department of Pediatrics, Division of Human Genetics, The Center for Applied Genomics, Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Nucleic Acids Res 41:e64. 2013
  2. pmc A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region
    L Alison McInnes
    Seaver Autism Center for Research and Treatment, Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Autism 1:5. 2010
  3. pmc Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility Loci
    Le B Nguyen
    Division of Oncology and Center for Childhood Cancer Research, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    PLoS Genet 7:e1002026. 2011
  4. pmc Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms
    Sharon J Diskin
    Center for Childhood Cancer Research, Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Nucleic Acids Res 36:e126. 2008
  5. pmc Integrative genomics identifies LMO1 as a neuroblastoma oncogene
    Kai Wang
    The Center for Applied Genomics, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Nature 469:216-20. 2011
  6. pmc Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children
    Xiao Chang
    The Center for Applied Genomics, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA
    Sci Rep 5:18792. 2015
  7. pmc Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies
    Elizabeth Goldmuntz
    Divisions of Cardiology Human Genetics Oncology Center for Applied Genomics Center for Biomedical Informatics, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Congenit Heart Dis 6:592-602. 2011
  8. doi request reprint Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions
    Peter S White
    The Center for Biomedical Informatics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
    Birth Defects Res A Clin Mol Teratol 100:951-64. 2014
  9. pmc Common variants in HSPB7 and FRMD4B associated with advanced heart failure
    Thomas P Cappola
    Penn Cardiovascular Institute, University of Pennsylvania School of Medicine, Philadelphia, USA
    Circ Cardiovasc Genet 3:147-54. 2010
  10. pmc Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments
    Yichuan Liu
    Center for Applied Genomics, The Children s Hospital of Philadelphia, 1014H, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA, 19104, USA
    Hum Genomics 9:31. 2015

Collaborators

Detail Information

Publications14

  1. pmc ParseCNV integrative copy number variation association software with quality tracking
    Joseph T Glessner
    Department of Pediatrics, Division of Human Genetics, The Center for Applied Genomics, Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Nucleic Acids Res 41:e64. 2013
    ..ParseCNV is freely available at http://parsecnv.sourceforge.net...
  2. pmc A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region
    L Alison McInnes
    Seaver Autism Center for Research and Treatment, Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Autism 1:5. 2010
    ..In this study we surveyed two ASD cohorts for 15q24 abnormalities to assess the frequency of genomic imbalances in this interval...
  3. pmc Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility Loci
    Le B Nguyen
    Division of Oncology and Center for Childhood Cancer Research, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    PLoS Genet 7:e1002026. 2011
    ..2 (P = 4.20 × 10⁻⁷) as being associated with the less aggressive form of the disease. These data demonstrate the importance of robust phenotypic data in GWAS analyses and identify additional susceptibility variants for neuroblastoma...
  4. pmc Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms
    Sharon J Diskin
    Center for Childhood Cancer Research, Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Nucleic Acids Res 36:e126. 2008
    ..With the wide application of whole-genome SNP genotyping techniques, our wave adjustment method will be important for taking full advantage of genotyped samples for CNV analysis...
  5. pmc Integrative genomics identifies LMO1 as a neuroblastoma oncogene
    Kai Wang
    The Center for Applied Genomics, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Nature 469:216-20. 2011
    ....
  6. pmc Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children
    Xiao Chang
    The Center for Applied Genomics, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA
    Sci Rep 5:18792. 2015
    ..Our results indicate that FGFR2 and PAPSS2 may play an important role in the regulation of magnesium homeostasis in children of European-American ancestry. ..
  7. pmc Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies
    Elizabeth Goldmuntz
    Divisions of Cardiology Human Genetics Oncology Center for Applied Genomics Center for Biomedical Informatics, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Congenit Heart Dis 6:592-602. 2011
    ....
  8. doi request reprint Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions
    Peter S White
    The Center for Biomedical Informatics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
    Birth Defects Res A Clin Mol Teratol 100:951-64. 2014
    ..We sought to characterize the landscape of structural variation associated with the subset of congenital cardiac defects characterized by left-sided obstruction...
  9. pmc Common variants in HSPB7 and FRMD4B associated with advanced heart failure
    Thomas P Cappola
    Penn Cardiovascular Institute, University of Pennsylvania School of Medicine, Philadelphia, USA
    Circ Cardiovasc Genet 3:147-54. 2010
    ..We tested the hypothesis that inherited variation in genes of known importance to cardiovascular biology would thus contribute to heart failure risk...
  10. pmc Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments
    Yichuan Liu
    Center for Applied Genomics, The Children s Hospital of Philadelphia, 1014H, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA, 19104, USA
    Hum Genomics 9:31. 2015
    ..We performed whole exome sequencing of a family with two individuals affected by ACL/PCL...
  11. pmc Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells
    Jin Li
    Center for Applied Genomics, Children s Hospital of Philadelphia, Abramson Research Center Suite 1216, 3615 Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA
    Nat Commun 6:6804. 2015
    ..In conclusion, the CLEC16A associations in CVID represent the first robust evidence of non-HLA associations in this immunodeficiency condition. ..
  12. pmc GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus
    Patrick Sleiman
    1 The Center for Applied Genomics, The Children s Hospital of Philadelphia, Philadelphia, PA, 19104, USA 2 Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, 19104, USA
    Sci Rep 3:3075. 2013
    ..While the function of TSNARE1 remains unknown, bioinformatic predictions based on phylogenetic ancestry indicate it may have a vertebrate-specific function in intracellular protein transport and synaptic vesicle exocytosis. ..
  13. pmc Common variants at 5q22 associate with pediatric eosinophilic esophagitis
    Marc E Rothenberg
    Division of Allergy and Immunology, Department of Pediatrics, Cincinnati Children s Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA
    Nat Genet 42:289-91. 2010
    ..These data implicate the 5q22 locus in the pathogenesis of EoE and identify TSLP as the most likely candidate gene in the region...
  14. pmc Modeling genetic inheritance of copy number variations
    Kai Wang
    Department of Genetics, Division of Human Genetics, Center for Applied Genomics, The Children s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA
    Nucleic Acids Res 36:e138. 2008
    ..In conclusion, our method produces accurate CNV calls, gives probabilistic estimates of CNV transmission and builds a solid foundation for the development of linkage and association tests utilizing CNVs...