David H Tegay

Summary

Affiliation: Stony Brook University
Country: USA

Publications

  1. ncbi Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus
    David H Tegay
    Stony Brook University Hospital, Stony Brook, New York, USA
    Am J Med Genet A 143:594-8. 2007
  2. ncbi A de novo apparently balanced translocation [46,XY,t(2;9)(p13;p24)] interrupting RAB11FIP5 identifies a potential candidate gene for autism spectrum disorder
    Jasmin Roohi
    Department of Genetics, Stony Brook University, Stony Brook, New York, USA
    Am J Med Genet B Neuropsychiatr Genet 147:411-7. 2008

Collaborators

  • Jasmin Roohi
  • Gary Stone
  • Eli Hatchwell
  • John C Pomeroy
  • Roscoe Stanyon
  • Sandra Burkett

Detail Information

Publications2

  1. ncbi Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus
    David H Tegay
    Stony Brook University Hospital, Stony Brook, New York, USA
    Am J Med Genet A 143:594-8. 2007
    ..Contiguous gene deletion should be considered as a mechanism for all patients presenting with hydrocephalus and NDI...
  2. ncbi A de novo apparently balanced translocation [46,XY,t(2;9)(p13;p24)] interrupting RAB11FIP5 identifies a potential candidate gene for autism spectrum disorder
    Jasmin Roohi
    Department of Genetics, Stony Brook University, Stony Brook, New York, USA
    Am J Med Genet B Neuropsychiatr Genet 147:411-7. 2008
    ..Detailed analysis of the rearrangement breakpoints suggests that the reciprocal translocation may have formed secondary to incorrect repair of double strand breaks (DSBs) by nonhomologous end-joining (NHEJ)...