Brynn Levy

Summary

Publications

  1. ncbi request reprint Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat)
    Brynn Levy
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
    Am J Med Genet 108:192-7. 2002
  2. 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
  3. ncbi request reprint Chromosome 13q neocentromeres: molecular cytogenetic characterization of three additional cases and clinical spectrum
    Shulan Li
    Department of Human Genetics Mount Sinai School of Medicine, New York, New York 10029, USA
    Am J Med Genet 110:258-67. 2002
  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 Glut1 deficiency syndrome and erythrocyte glucose uptake assay
    Hong Yang
    Colleen Giblin Laboratories for Pediatric Neurology Research, Department of Neurology, Columbia University, New York, NY 10032, USA
    Ann Neurol 70:996-1005. 2011
  6. pmc Glut1 deficiency: inheritance pattern determined by haploinsufficiency
    Michael Rotstein
    Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, NY, USA
    Ann Neurol 68:955-8. 2010
  7. doi request reprint Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?
    Brynn Levy
    Department of Pathology and Cell Biology, Columbia University Medical Center and the New York Presbyterian Hospital, New York, NY, USA
    Genet Med 14:811-8. 2012
  8. ncbi request reprint Characterization of constitutional chromosome abnormalities by comparative genomic hybridization
    Brynn Levy
    Departments of Human Genetics and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA
    Methods Mol Biol 204:121-32. 2002
  9. ncbi request reprint Incidence and spectrum of chromosome abnormalities in spontaneous abortions: new insights from a 12-year study
    Joshua Menasha
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
    Genet Med 7:251-63. 2005
  10. pmc Chromosomal microarray versus karyotyping for prenatal diagnosis
    Ronald J Wapner
    Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY 10032, USA
    N Engl J Med 367:2175-84. 2012

Collaborators

Detail Information

Publications20

  1. ncbi request reprint Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat)
    Brynn Levy
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
    Am J Med Genet 108:192-7. 2002
    ..More importantly, our investigation has defined the duplication of 5q34 --> qter as a distinct clinical phenotype...
  2. 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...
  3. ncbi request reprint Chromosome 13q neocentromeres: molecular cytogenetic characterization of three additional cases and clinical spectrum
    Shulan Li
    Department of Human Genetics Mount Sinai School of Medicine, New York, New York 10029, USA
    Am J Med Genet 110:258-67. 2002
    ..The complexity and variability of the phenotypes seen in these patients does not support a simple reductionist view of phenotype/genotype correlation with polysomy for certain chromosomal regions...
  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 Glut1 deficiency syndrome and erythrocyte glucose uptake assay
    Hong Yang
    Colleen Giblin Laboratories for Pediatric Neurology Research, Department of Neurology, Columbia University, New York, NY 10032, USA
    Ann Neurol 70:996-1005. 2011
    ..Hypoglycorrhachia and decreased erythrocyte 3-OMG uptake are confirmatory laboratory biomarkers. The objective is to expand previous observations regarding the diagnostic value of the uptake assay...
  6. pmc Glut1 deficiency: inheritance pattern determined by haploinsufficiency
    Michael Rotstein
    Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, NY, USA
    Ann Neurol 68:955-8. 2010
    ..These cases demonstrate that Glut1 DS may present as an autosomal recessive trait. The clinical pattern of inheritance is determined by the relative pathogenicity of the mutation and the resulting degree of haploinsufficiency...
  7. doi request reprint Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?
    Brynn Levy
    Department of Pathology and Cell Biology, Columbia University Medical Center and the New York Presbyterian Hospital, New York, NY, USA
    Genet Med 14:811-8. 2012
    ....
  8. ncbi request reprint Characterization of constitutional chromosome abnormalities by comparative genomic hybridization
    Brynn Levy
    Departments of Human Genetics and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA
    Methods Mol Biol 204:121-32. 2002
  9. ncbi request reprint Incidence and spectrum of chromosome abnormalities in spontaneous abortions: new insights from a 12-year study
    Joshua Menasha
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
    Genet Med 7:251-63. 2005
    ..We sought to evaluate the effect of these refinements on the success rate of our cultures and on the resulting frequency of detected chromosomal abnormalities...
  10. pmc Chromosomal microarray versus karyotyping for prenatal diagnosis
    Ronald J Wapner
    Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY 10032, USA
    N Engl J Med 367:2175-84. 2012
    ..We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis...
  11. ncbi request reprint Unique case of mosaicism involving two morphologically similar marker chromosomes of different centric origin in a patient with developmental delay
    Brynn Levy
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, USA
    Am J Med Genet 108:198-204. 2002
    ..In light of our experience, we urge caution in interpreting karyotypes with marker chromosomes. Our case illustrates the limitations of fluorescent DNA probes and sampling errors...
  12. 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...
  13. doi request reprint Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis
    Brynn Levy
    Department of Pathology and Cell Biology, College of Physicians and Surgeons of Columbia University, New York, NY 10032, USA
    Mol Genet Metab 100:129-35. 2010
    ..All patients had severe epilepsy, significant cognitive and motor delay, ataxia, and microcephaly. MRI changes, when present, were of greater severity than are typically associated with missense mutations in SLC2A1...
  14. 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...
  15. ncbi request reprint Genomic organization and sequence variation of the human integrin subunit alpha8 gene (ITGA8)
    Catherine Ekwa-Ekoka
    Department of Pediatrics, Mount Sinai School of Medicine, New York, NY, USA
    Matrix Biol 23:487-96. 2004
    ..Identification of the sequence variation will allow genetic association studies of alpha8 in kidney and lung disease...
  16. ncbi request reprint Cytogenetics in reproductive medicine: the contribution of comparative genomic hybridization (CGH)
    Dagan Wells
    The Institute for Reproductive Medicine and Science, St Barnabas Medical Center, New Jersey 07052, USA
    Bioessays 25:289-300. 2003
    ..The clinical application of CGH for the purposes of PGD and the future extensions of the methodology, including DNA microarrays, are discussed...
  17. ncbi request reprint First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy
    Dagan Wells
    Department of Obstetrics and Gynaecology, University College London, United Kingdom
    Fertil Steril 78:543-9. 2002
    ..To develop a preimplantation genetic diagnosis (PGD) protocol that allows any form of chromosome imbalance to be detected...
  18. doi request reprint Fine mapping of breakpoints in two unrelated patients with rare overlapping interstitial deletions of 9q with mild dysmorphic features
    Anita S Kulharya
    Department of Pathology, Medical College of Georgia, Augusta, Georgia, USA
    Am J Med Genet A 146:2234-41. 2008
    ..Our study shows the investigative nature of the latest array technology and the limitations of this technology in the accurate delineation of breakpoints...
  19. ncbi request reprint Deregulated overexpression of hCdt1 and hCdc6 promotes malignant behavior
    Michalis Liontos
    Molecular Carcinogenesis Group, Department of Histology and Embryology, School of Medicine, University of Athens, Athens, Greece
    Cancer Res 67:10899-909. 2007
    ..In addition, stable expression of hCdc6 and hCdt1 in premalignant papilloma cells led to transformation of the cells that produced tumors upon injection into nude mice depicting the oncogenic potential of their deregulation...
  20. ncbi request reprint Microarray analysis for constitutional cytogenetic abnormalities
    Lisa G Shaffer
    Signature Genomic Laboratories, Spokane, Washington, USA
    Genet Med 9:654-62. 2007