PubRank

Elizabeth C Engle

Author PubWeight™ 66.14‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell 2010 4.37
2 Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science 2004 3.01
3 Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Am J Hum Genet 2002 2.47
4 Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity? Ophthalmology 2011 2.42
5 Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet 2003 2.23
6 Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet 2010 2.12
7 Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. Invest Ophthalmol Vis Sci 2005 2.12
8 Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nat Genet 2005 1.98
9 Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science 2008 1.84
10 Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations. Curr Opin Genet Dev 2011 1.84
11 Recent progress in understanding congenital cranial dysinnervation disorders. J Neuroophthalmol 2011 1.76
12 Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus. Invest Ophthalmol Vis Sci 2007 1.75
13 High-resolution magnetic resonance imaging demonstrates abnormalities of motor nerves and extraocular muscles in patients with neuropathic strabismus. J AAPOS 2006 1.52
14 Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Invest Ophthalmol Vis Sci 2004 1.36
15 An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. Hum Mol Genet 2012 1.25
16 Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. BMC Genet 2007 1.19
17 Allelic diversity in human developmental neurogenetics: insights into biology and disease. Neuron 2010 1.17
18 The clinical spectrum of homozygous HOXA1 mutations. Am J Med Genet A 2008 1.16
19 A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. Brain 2013 1.15
20 Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome. Invest Ophthalmol Vis Sci 2007 1.15
21 Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations. Invest Ophthalmol Vis Sci 2010 1.15
22 Congenital fibrosis of the extraocular muscles. Semin Ophthalmol 2008 1.12
23 Acute ataxia in childhood. J Child Neurol 2003 1.12
24 Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis. Biosci Rep 2010 1.11
25 Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. Hum Genet 2002 1.11
26 Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy. Invest Ophthalmol Vis Sci 2007 1.09
27 A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. Arch Ophthalmol 2005 1.08
28 Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. Brain 2006 1.02
29 Human disorders of axon guidance. Curr Opin Neurobiol 2012 1.01
30 CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. Am J Med Genet A 2010 1.00
31 Expansion of the CHN1 strabismus phenotype. Invest Ophthalmol Vis Sci 2011 1.00
32 HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. Am J Hum Genet 2012 0.96
33 Magnetic resonance imaging of the endophenotype of a novel familial Möbius-like syndrome. J AAPOS 2008 0.94
34 HOXA1 mutations are not a common cause of Duane anomaly. Am J Med Genet A 2006 0.94
35 A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). Am J Ophthalmol 2003 0.93
36 The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease. Semin Ophthalmol 2013 0.89
37 Elevation of one eye during tooth brushing. Am J Ophthalmol 2002 0.87
38 Mutations in KIF21A are responsible for CFEOM1 worldwide. Ophthalmic Genet 2004 0.86
39 Two novel CHN1 mutations in 2 families with Duane retraction syndrome. Arch Ophthalmol 2011 0.85
40 KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). Mol Vis 2010 0.85
41 Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome. J AAPOS 2009 0.84
42 Synergistic divergence: a distinct ocular motility dysinnervation pattern. Invest Ophthalmol Vis Sci 2009 0.84
43 Wildervanck's syndrome and mirror movements: a congenital disorder of axon migration? J Neurol 2011 0.82
44 Familial unilateral Brown syndrome. Ophthalmic Genet 2002 0.81
45 Crystalline cataract caused by a heterozygous missense mutation in γD-crystallin (CRYGD). Mol Vis 2011 0.81
46 Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Gene Expr Patterns 2012 0.79
47 HOXA1 mutations are not a common cause of Möbius syndrome. J AAPOS 2010 0.79
48 Menkes disease in affected females: the clinical disease spectrum. Am J Med Genet A 2014 0.77
49 Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome. J Clin Endocrinol Metab 2015 0.77
50 Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata. Ophthalmic Genet 2009 0.76
51 Mutant α2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome. J Clin Invest 2017 0.76
52 Genes, brainstem development, and eye movements. Neurology 2002 0.75
53 Ocular manifestations (strabismus: duane syndrome; and retinal nerve fiber hypoplasia) in okihiro syndrome (duane radial ray syndrome). Binocul Vis Strabolog Q Simms Romano 2012 0.75