Dorothy Warburton

Summary

Affiliation: Columbia University
Country: USA

Publications

  1. pmc The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease
    Dorothy Warburton
    Departments of Pediatrics and Genetics and Development, Columbia University, New York, NY, USA
    Hum Genet 133:11-27. 2014
  2. pmc Skewed X chromosome inactivation and trisomic spontaneous abortion: no association
    Dorothy Warburton
    Department of Genetics and Development, Columbia University, New York, NY 10032, USA
    Am J Hum Genet 85:179-93. 2009
  3. pmc Prenatal PAH exposure is associated with chromosome-specific aberrations in cord blood
    Manuela A Orjuela
    Departments of Pediatrics Oncology, Environmental Health Sciences, Biostatistics and Genetics, Columbia University, New York, NY, United States
    Mutat Res 703:108-14. 2010
  4. pmc Duplication of the ZIC2 gene is not associated with holoprosencephaly
    Vaidehi Jobanputra
    Department of Pathology, Columbia University Medical Center, New York, New York, USA
    Am J Med Genet A 158:103-8. 2012
  5. doi request reprint The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature
    Edina Torgyekes
    College of Physicians and Surgeons of Columbia University, New York, New York, USA
    Am J Med Genet A 155:1884-96. 2011
  6. pmc Urinary naphthol metabolites and chromosomal aberrations in 5-year-old children
    Manuela A Orjuela
    Department of Pediatrics, Columbia University, New York, NY 10032, USA
    Cancer Epidemiol Biomarkers Prev 21:1191-202. 2012
  7. pmc Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis
    Gina M Destefano
    Departments of Genetics and Development, Columbia University, New York, NY, USA
    Proc Natl Acad Sci U S A 110:7790-5. 2013
  8. ncbi request reprint X-chromosome inactivation and ovarian age during the reproductive years
    Jennie Kline
    Epidemiology of Developmental Brain Disorders Department, New York State Psychiatric Institute, New York, New York, USA
    Fertil Steril 85:1488-95. 2006
  9. pmc Using FISH to increase the yield and accuracy of karyotypes from spontaneous abortion specimens
    Vaidehi Jobanputra
    Department of Pathology, Columbia University, New York, NY, USA
    Prenat Diagn 31:755-9. 2011
  10. ncbi request reprint Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements
    Vaidehi Jobanputra
    Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA
    Genet Med 7:111-8. 2005

Collaborators

Detail Information

Publications19

  1. pmc The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease
    Dorothy Warburton
    Departments of Pediatrics and Genetics and Development, Columbia University, New York, NY, USA
    Hum Genet 133:11-27. 2014
    ..In agreement with other series, we identified likely causal CNVs in 5.6 % of our total sample, half of which were de novo...
  2. pmc Skewed X chromosome inactivation and trisomic spontaneous abortion: no association
    Dorothy Warburton
    Department of Genetics and Development, Columbia University, New York, NY 10032, USA
    Am J Hum Genet 85:179-93. 2009
    ..Our data support neither an association of HSXI with all trisomies nor an association of HSXI with chromosomally normal male spontaneous abortions. We also find no association between HSXI and recurrent abortion (n = 45)...
  3. pmc Prenatal PAH exposure is associated with chromosome-specific aberrations in cord blood
    Manuela A Orjuela
    Departments of Pediatrics Oncology, Environmental Health Sciences, Biostatistics and Genetics, Columbia University, New York, NY, United States
    Mutat Res 703:108-14. 2010
    ..The observed chromosome-specific effects of prenatal airborne PAHs raise concern about potential cancer risk...
  4. pmc Duplication of the ZIC2 gene is not associated with holoprosencephaly
    Vaidehi Jobanputra
    Department of Pathology, Columbia University Medical Center, New York, New York, USA
    Am J Med Genet A 158:103-8. 2012
    ..This information will be useful for counseling in other occurrences of this duplication identified by microarray...
  5. doi request reprint The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature
    Edina Torgyekes
    College of Physicians and Surgeons of Columbia University, New York, New York, USA
    Am J Med Genet A 155:1884-96. 2011
    ..Our review found a patient with a mirror duplication of our first patient's deletion, confirming the existence of an underlying genomic structural instability in the region. © 2011 Wiley-Liss, Inc...
  6. pmc Urinary naphthol metabolites and chromosomal aberrations in 5-year-old children
    Manuela A Orjuela
    Department of Pediatrics, Columbia University, New York, NY 10032, USA
    Cancer Epidemiol Biomarkers Prev 21:1191-202. 2012
    ..Although prenatal (maternal) PAH exposure predicts chromosomal aberrations in cord blood, few studies have examined chromosomal aberrations in school-age children and none has examined their association with metabolites of specific PAHs...
  7. pmc Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis
    Gina M Destefano
    Departments of Genetics and Development, Columbia University, New York, NY, USA
    Proc Natl Acad Sci U S A 110:7790-5. 2013
    ..Taken together, our findings suggest a role for FGF13 in hair follicle growth and in the hair cycle...
  8. ncbi request reprint X-chromosome inactivation and ovarian age during the reproductive years
    Jennie Kline
    Epidemiology of Developmental Brain Disorders Department, New York State Psychiatric Institute, New York, New York, USA
    Fertil Steril 85:1488-95. 2006
    ..To explore whether skewed X-chromosome inactivation (XCI) is related to indicators of ovarian age...
  9. pmc Using FISH to increase the yield and accuracy of karyotypes from spontaneous abortion specimens
    Vaidehi Jobanputra
    Department of Pathology, Columbia University, New York, NY, USA
    Prenat Diagn 31:755-9. 2011
    ..The objective of the study is to demonstrate that multiplex fluorescence in situ hybridization (FISH) can increase the yield and accuracy of karyotypes from spontaneous abortion specimens...
  10. ncbi request reprint Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements
    Vaidehi Jobanputra
    Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA
    Genet Med 7:111-8. 2005
    ..To demonstrate the accuracy and sensitivity of Representational Oligonucleotide Microarray Analysis (ROMA) to describe copy number changes in patients with chromosomal abnormalities...
  11. pmc Trisomy recurrence: a reconsideration based on North American data
    Dorothy Warburton
    Department of Genetics, Columbia University, New York, NY, USA
    Am J Hum Genet 75:376-85. 2004
    ..8 (90% CI 1.1-3.0; P=.04). The significantly increased risk for heterotrisomy supports the hypothesis that some women have a risk for nondisjunction higher than do others of the same age...
  12. pmc A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer
    Vaidehi Jobanputra
    Department of Obstetrics and Gynecology, Columbia University, New York, NY, USA
    Prenat Diagn 25:683-6. 2005
    ..To report the first tertiary monosomy in a pregnancy loss to a female t(11;22) carrier...
  13. pmc Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth
    Gina M Destefano
    Department of Genetics and Development, Columbia University, New York, New York, United States of America
    PLoS Genet 10:e1004333. 2014
    ..Collectively, our findings support ABCA5 as a gene underlying the CGHT phenotype and suggest a novel, previously unrecognized role for this gene in regulating hair growth...
  14. doi request reprint Preparation and culture of products of conception and other solid tissues for chromosome analysis
    Brynn Levy
    College of Physicians and Surgeons of Columbia University, New York, USA
    Curr Protoc Hum Genet . 2009
    ..Two support protocols describe methods for collecting tissue samples...
  15. ncbi request reprint Validation of QF-PCR for prenatal aneuploidy screening in the United States
    Lucia Brown
    Department of Obstetrics and Gynecology, Columbia University, New York, NY 10032, USA
    Prenat Diagn 26:1068-74. 2006
    ..Our objective in the present study was to validate QF-PCR as a means for prenatal aneuploidy screening in our institution...
  16. pmc A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
    Katherine A Fantauzzo
    Department of Genetics and Development, Columbia University, New York, NY 10032, USA
    Hum Mol Genet 17:3539-51. 2008
    ..Collectively, these results describe a position effect that downregulates TRPS1 expression as the probable cause of hypertrichosis in AS in humans and the Koa phenotype in mice...
  17. pmc Fluorescence in situ hybridization is necessary to detect an association between chromosome aberrations and polycyclic aromatic hydrocarbon exposure in utero and reveals nonrandom chromosome involvement
    Kirsti A Bocskay
    Department of Environmental Health Sciences, Mailman School of Public Health, Columbia University, New York, New York, USA
    Environ Mol Mutagen 48:114-23. 2007
    ..Together, these results suggest that PAHs may be targeting specific chromosomes and highlight the importance of using the more sensitive detection methods to assess risk in populations with low levels of exposure...
  18. pmc Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21
    Chi Ming Li
    Institute for Cancer Genetics, Columbia University College of Physicians and Surgeons, New York, NY, USA
    BMC Med Genet 7:24. 2006
    ..Down syndrome (DS) is caused by trisomy 21 (+21), but the aberrations in gene expression resulting from this chromosomal aneuploidy are not yet completely understood...
  19. pmc Intermediate CGG repeat length at the FMR1 locus is not associated with hormonal indicators of ovarian age
    Jennie K Kline
    From the 1Imprints Center, New York State Psychiatric Institute, New York, NY 2Department of Epidemiology, 3Gertrude H Sergievsky Center, and 4Department of Biostatistics, Columbia University, New York, NY 5Department of Obstetrics, Gynecology, and Reproductive Science, The University of Vermont, Burlington, VT 6Diagnostic Research and Technology Development, Asuragen Inc, Austin, TX and 7Departments of Genetics and Development and Pediatrics, Columbia University, New York, NY
    Menopause 21:740-8. 2014
    ..We tested whether intermediate length is associated with indicators of ovarian age in a sample of fertile women. Our primary measures of ovarian age were antimüllerian hormone (AMH) and follicle-stimulating hormone (FSH) levels...