Tamim H Shaikh

Summary

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

Publications

  1. ncbi request reprint Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies
    Tamim H Shaikh
    Division of Human Genetics, The Children s Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Genet Med 9:617-25. 2007
  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 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
  4. 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
  5. 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
  6. pmc 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
  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. 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
  9. pmc A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21
    Chad R Haldeman-Englert
    Division of Human Genetics, The Children s Hospital of Philadelphia, 1002 ARC, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA
    Am J Med Genet A 152:196-202. 2010
  10. ncbi request reprint Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome
    Eric M Jackson
    Department of Neurosurgery, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania
    Am J Med Genet A 143:1767-70. 2007

Collaborators

Detail Information

Publications20

  1. ncbi request reprint Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies
    Tamim H Shaikh
    Division of Human Genetics, The Children s Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Genet Med 9:617-25. 2007
    ....
  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 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
    ....
  4. 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...
  5. 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...
  6. pmc 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...
  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. 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...
  9. pmc A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21
    Chad R Haldeman-Englert
    Division of Human Genetics, The Children s Hospital of Philadelphia, 1002 ARC, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA
    Am J Med Genet A 152:196-202. 2010
    ..This case underscores the utility of genomewide microarray analysis for the detection of copy number alterations in patients with apparently balanced complex rearrangements and abnormal phenotypes...
  10. ncbi request reprint Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome
    Eric M Jackson
    Department of Neurosurgery, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania
    Am J Med Genet A 143:1767-70. 2007
    ..These results suggest that, despite an underlying cancer predisposition, the occurrence of BWS and AT/RT in this patient may be unrelated...
  11. pmc Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy
    A Reghan Foley
    Division of Neurology, The Children s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA
    Ann Neurol 69:206-11. 2011
    ..Our findings have important implications for the genetic evaluation of patients with collagen VI-related myopathies as well as for potential therapeutic interventions for this patient population...
  12. pmc A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21)
    Molly B Sheridan
    The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Am J Hum Genet 87:209-18. 2010
    ..Furthermore, demonstration that de novo PATRR8-to-PATRR11 translocations occur in sperm suggests that palindrome-mediated translocation is a universal mechanism producing chromosomal rearrangements...
  13. 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...
  14. pmc Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes
    Tamim H Shaikh
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Hum Mol Genet 20:880-93. 2011
    ..These results demonstrate the high predictive potential of model organism phenotypes when implicating candidate genes for rare genomic disorders...
  15. doi request reprint Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features
    Kosuke Izumi
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania
    Am J Med Genet A 161:3137-43. 2013
    ..Hence, we suggest that detailed endocrine evaluation and longitudinal endocrine follow up be performed in individuals with proximal interstitial 6q deletion involving SIM1...
  16. ncbi request reprint Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays
    Jeffrey E Ming
    Division of Human Genetics, Stokes Research Institute, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Hum Mutat 27:467-73. 2006
    ..Their higher resolution and commercial availability make this type of microarray highly desirable for application in the diagnosis of patients with multiple congenital defects...
  17. ncbi request reprint High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor
    Eric M Jackson
    Department of Neurosurgery, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    Hum Genet 122:117-27. 2007
    ..2. These are the first reported cases in which an association has been established between recurrent, interstitial deletions mediated by LCRs in 22q11.2 and a predisposition to cancer...
  18. pmc Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome
    Elisabeth E Mlynarski
    Division of Human Genetics, Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Am J Hum Genet 96:753-64. 2015
    ..68 × 10(-4), two-tailed Fisher's exact test), indicating that the SLC2A3 duplication might serve as a genetic modifier of CHDs and/or aortic arch anomalies in individuals with 22q11DS...
  19. pmc Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms
    Tamim H Shaikh
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Genome Res 17:482-91. 2007
    ....
  20. ncbi request reprint Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2
    Blake C Ballif
    Signature Genomic Laboratories, Spokane, Washington 99202, USA
    Nat Genet 39:1071-3. 2007
    ..2-p12.2 constitute a previously undescribed syndrome...