David H Tegay
Affiliation: Stony Brook University
- Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidusDavid 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...
- A de novo apparently balanced translocation [46,XY,t(2;9)(p13;p24)] interrupting RAB11FIP5 identifies a potential candidate gene for autism spectrum disorderJasmin 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)...