Genomes and Genes
Affiliation: The Children's Hospital of Philadelphia
- ParseCNV integrative copy number variation association software with quality trackingJoseph 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...
- A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical regionL 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...
- Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility LociLe 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...
- Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platformsSharon 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...
- Integrative genomics identifies LMO1 as a neuroblastoma oncogeneKai Wang
The Center for Applied Genomics, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Nature 469:216-20. 2011....
- Genome-wide association study reveals two loci for serum magnesium concentrations in European-American childrenXiao 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. ..
- Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomaliesElizabeth 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....
- Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesionsPeter 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...
- Common variants in HSPB7 and FRMD4B associated with advanced heart failureThomas 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...
- Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligamentsYichuan 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...
- Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cellsJin 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. ..
- GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locusPatrick 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. ..
- Common variants at 5q22 associate with pediatric eosinophilic esophagitisMarc 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...
- Modeling genetic inheritance of copy number variationsKai 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...