Elizabeth C. Engle

Overview

Best Publications

• Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

  Max A. Tischfield;Hagit N. Baris;Chen Wu;Guenther Rudolph

  769
  Citations

• Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis

  Joanna C. Jen;Wai Man Chan;Thomas M. Bosley;Jijun Wan

  430
  Citations

• Structural Grading of Foveal Hypoplasia Using Spectral-Domain Optical Coherence Tomography a Predictor of Visual Acuity?

  Mervyn G. Thomas;Anil Kumar;Sarim Mohammad;Frank A. Proudlock

  403
  Citations

• Deletions of NRXN1 (Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders

  Michael S L Ching;Yiping Shen;Yiping Shen;Wen-Hann Tan;Wen-Hann Tan;Shafali S Jeste;Shafali S Jeste

  354
  Citations

• Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family

  Raidah Al-Baradie;Raidah Al-Baradie;Koki Yamada;Koki Yamada;Cynthia St. Hilaire;Wai-Man Chan

  353
  Citations

• Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development

  Max A. Tischfield;Thomas M. Bosley;Mustafa A.M. Salih;Ibrahim A. Alorainy

  321
  Citations

• Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

  Koki Yamada;Caroline Andrews;Wai Man Chan;Craig A. McKeown

  298
  Citations

• Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2.

  Motoi Nakano;Koki Yamada;Jennifer Fain;Emin C. Sener

  261
  Citations

• Human Genetic Disorders of Axon Guidance

  Elizabeth C. Engle

  244
  Citations

• Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.

  Max A Tischfield;Gustav Y Cederquist;Mohan L Gupta;Elizabeth C Engle

  231
  Citations

• Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles.

  Elizabeth C. Engle;Boyan C. Goumnerov;Craig A. McKeown;Martha Schatz

  212
  Citations

• 110th ENMC International Workshop: The congenital cranial dysinnervation disorders (CCDDs): Naarden, The Netherlands, 25–27 October, 2002

  N.J Gutowski;T.M Bosley;E.C Engle

  201
  Citations

• Human CHN1 Mutations Hyperactivate α2-Chimaerin and Cause Duane's Retraction Syndrome

  Noriko Miyake;Noriko Miyake;John Chilton;Maria Psatha;Long Cheng;Long Cheng

  187
  Citations

• Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A.

  Joseph L. Demer;Joseph L. Demer;Robert A. Clark;Elizabeth C. Engle;Elizabeth C. Engle

  165
  Citations

• CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3.

  Edward J. Doherty;Margaret E. Macy;Susan M. Wang;Catherine P. Dykeman

  159
  Citations

• Distinct α- and β-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis

  Max A. Tischfield;Max A. Tischfield;Elizabeth C. Engle;Elizabeth C. Engle

  150
  Citations

• Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration

  Alban Latremoliere;Long Cheng;Michelle DeLisle;Chen Wu;Chen Wu

  142
  Citations

• An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation

  Gustav Y. Cederquist;Anna Luchniak;Max A. Tischfield;Maya Peeva

  139
  Citations

• Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.

  Elizabeth C. Engle;Louis M. Kunkel;Louis M. Kunkel;Linda A. Specht;Alan H. Beggs

  136
  Citations

• Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1

  Wai Man Chan;Caroline Andrews;Caroline Andrews;Laryssa Dragan;Douglas Fredrick

  76
  Citations