Public Profile of Elizabeth Engle
Organization: CHILDREN'S HOSPITAL BOSTON
Location: BOSTON,MASSACHUSETTS
Area of Research:
Keywords: congenital eye disorder molecular pathology eye coordination disorder eye movement disorder genetic disorder diagnosis genetic marker linkage mapping molecular cloning developmental genetics gene expression chromosome aberration gene mutation genetic polymorphism human subject cranial nerve developmental neurobiology human genetic material tag northern blotting family genetics artificial chromosome clinical research linkage disequilibrium
Publications (14)
Full List is available for registered users.
  1. Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science. 2008.
  2. Chan WM, Andrews C, Dragan L, Fredrick D, Armstrong L, Lyons C, Geraghty MT, Hunter DG, Yazdani A, Traboulsi EI, Pott JW, Gutowski NJ, Ellard S, Young E, Hanisch F, Koc F, Schnall B, Engle EC. Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. BMC Genet. 2007. PDF
  3. Engle EC. Oculomotility disorders arising from disruptions in brainstem motor neuron development. Arch Neurol. 2007.
  4. Engle EC. Genetic basis of congenital strabismus. Arch Ophthalmol. 2007.
  5. Demer JL, Ortube MC, Engle EC, Thacker N. High-resolution magnetic resonance imaging demonstrates abnormalities of motor nerves and extraocular muscles in patients with neuropathic strabismus. J AAPOS. 2006. PDF
Funding (3)
List is available for registered users.