Xiaowu Gai

Summary

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

Publications

  1. pmc CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics
    Xiaowu Gai
    Center for Biomedical Informatics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    BMC Bioinformatics 11:74. 2010
  2. pmc Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors
    Eric M Jackson
    Department of Neurosurgery and Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Clin Cancer Res 15:1923-30. 2009
  3. pmc SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation
    Binita M Kamath
    Division of Gastroenterology and Nutrition, Department of Pediatrics, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Hum Mutat 30:371-8. 2009
  4. pmc High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications
    Tamim H Shaikh
    Division of Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Genome Res 19:1682-90. 2009
  5. doi request reprint 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
  6. doi request reprint Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies
    Margaret J Dougherty
    Division of Human Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Cancer Genet 204:26-38. 2011
  7. pmc Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene
    Angela J Sievert
    Division of Oncology, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Brain Pathol 19:449-58. 2009
  8. pmc Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies
    Brendan J Keating
    The Institute for Translational Medicine and Therapeutics, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvannia, USA
    PLoS ONE 3:e3583. 2008
  9. doi request reprint Re-sequencing of ankyrin 3 exon 48 and case-control association analysis of rare variants in bipolar disorder type I
    Glenn A Doyle
    Department of Psychiatry, Center for Neurobiology and Behavior, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA
    Bipolar Disord 14:809-21. 2012
  10. pmc Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3
    Melissa Leyva-Vega
    Division of Gastroenterology, Hepatology and Nutrition, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Am J Med Genet A 152:886-95. 2010

Collaborators

Detail Information

Publications15

  1. pmc CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics
    Xiaowu Gai
    Center for Biomedical Informatics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    BMC Bioinformatics 11:74. 2010
    ..However, few informatics tools for accurate and efficient CNV detection and assessment currently exist...
  2. pmc Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors
    Eric M Jackson
    Department of Neurosurgery and Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Clin Cancer Res 15:1923-30. 2009
    ....
  3. pmc SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation
    Binita M Kamath
    Division of Gastroenterology and Nutrition, Department of Pediatrics, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Hum Mutat 30:371-8. 2009
    ..Deletions of the short arm of chromosome 20 are associated with relatively mild and limited clinical anomalies. The use of SNP arrays provides accurate high-resolution definition of genomic abnormalities...
  4. pmc High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications
    Tamim H Shaikh
    Division of Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Genome Res 19:1682-90. 2009
    ..Together, this analysis and annotation provides a useful resource to assist with the assessment of CNVs in the contexts of human variation, disease susceptibility, and clinical molecular diagnostics...
  5. doi request reprint 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
    ....
  6. doi request reprint Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies
    Margaret J Dougherty
    Division of Human Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Cancer Genet 204:26-38. 2011
    ..On the basis of our experience in the last 2 years, we suggest that single nucleotide polymorphism arrays are a valuable addition to, but not a replacement for, standard cytogenetic approaches for hematologic malignancies...
  7. pmc Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene
    Angela J Sievert
    Division of Oncology, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Brain Pathol 19:449-58. 2009
    ..Further studies are required to determine the role of this fusion gene in downstream MAPK signaling and its role in development of pediatric low-grade astrocytomas...
  8. pmc Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies
    Brendan J Keating
    The Institute for Translational Medicine and Therapeutics, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvannia, USA
    PLoS ONE 3:e3583. 2008
    ..These datasets will also facilitate more robust secondary analyses, such as explorations with alternative genetic models, epistasis and gene-environment interactions...
  9. doi request reprint Re-sequencing of ankyrin 3 exon 48 and case-control association analysis of rare variants in bipolar disorder type I
    Glenn A Doyle
    Department of Psychiatry, Center for Neurobiology and Behavior, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA
    Bipolar Disord 14:809-21. 2012
    ..Because the GWAS suggested multiple common haplotypes associated with BPD-I (with odds ratio ~1.3), we hypothesized that rare variants within these common haplotypes might increase risk for BPD-I...
  10. pmc Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3
    Melissa Leyva-Vega
    Division of Gastroenterology, Hepatology and Nutrition, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Am J Med Genet A 152:886-95. 2010
    ..The overlapping 1.76 Mb deletion on chromosome 2q37.3 from 240,936,900 to 242,692,820 constitutes the critical region and the genes within this region could be candidates for susceptibility to BA...
  11. ncbi request reprint A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay
    Chad R Haldeman-Englert
    Division of Human Genetics, Bioinformatics Core, Center for Applied Genomics, Children s Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Eur J Med Genet 52:265-8. 2009
    ..Our patient does not have clinical features that overlap completely with either proximal or distal 3p deletions, suggesting that the deletion seen in our patient leads to a distinct clinical phenotype not described previously...
  12. pmc Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome
    Marni J Falk
    Division of Human Genetics and Division of Child Development and Metabolic Disease, Department of Pediatrics, The Children s Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Discov Med 14:389-99. 2012
    ..The "1:100 Mito-Plus Whole-Exome" Agilent capture kit offers an optimized tool for whole-exome analysis of nuclear and mtDNA genes relevant to the diagnostic evaluation of mitochondrial disease...
  13. pmc Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes
    Daria V Babushok
    Division of Hematology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA Comprehensive Bone Marrow Failure Center, Division of Hematology, Department of Pediatrics, Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Br J Haematol 164:73-82. 2014
    ..Our analysis of clinical utility of SNP-A shows the highest yield of detecting new clonal haematopoiesis at diagnosis and at relapse. ..
  14. pmc Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy
    Hongbo M Xie
    Center for Biomedical Informatics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    BMC Bioinformatics 12:402. 2011
    ....
  15. pmc NMNAT1 mutations cause Leber congenital amaurosis
    Marni J Falk
    Department of Pediatrics, Division of Human Genetics, The Children s Hospital of Philadelphia, Pennsylvania, USA
    Nat Genet 44:1040-5. 2012
    ..These results are the first to link an NMNAT isoform to disease in humans and indicate that NMNAT1 mutations cause LCA...