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profileElizabeth Carson Engle, M.D.

TitleProfessor of Neurology
InstitutionBoston Children's Hospital
DepartmentNeurology
AddressChildrens Hospital
Neurology Research CLS14075
300 Longwood Ave
Boston MA 02115
Phone617/919-4030
Fax617/919-2769
vCardDownload vCard (login for email)
Other Positions
TitleProfessor of Ophthalmology
InstitutionBoston Children's Hospital
DepartmentOphthalmology


Collapse Mentoring 
Collapse current student opportunities
Available: 10/01/11, Expires: 10/01/19

Our lab uses human genetics, animal modeling, and in vitro approaches to define and study congenital disorders of the peripheral and central nervous system. Projects range from use of next generation sequencing to identify disease genes to cellular and biochemical studies of the cytoskeleton in neuronal and axonal development.

Collapse completed student projects
Copy Number Variation Contributes to the Phenotypic Variability of Syndromic Duane Retraction Syndrome
Summer, 06/08/15 - 08/14/15
A novel syndrome caused by the E410K substitution in the neuron-specific protein B-tubulin isotype 3
Full Time, 09/15/11 - 09/15/12
Genome-Wide Linkage Analysis of a 3-Generation Family with Isolated Duane's Syndrome of Unknown Etiology
Summer, 06/13/11 - 08/12/11

Collapse Research 
Collapse research activities and funding
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
R01EY027421     (ENGLE, ELIZABETH C.)Apr 1, 2017 - Feb 28, 2022
NIH/NEI
Dissecting ocular congenital cranial dysinnervation disorders through whole genome sequence analysis
Role: Principal Investigator

U01HD079068     (JABS, ETHYLIN WANG)Jan 10, 2014 - Dec 31, 2016
NIH/NICHD
Birth Defects: Moebius syndrome and related facial weakness disorders
Role: Co-Principal Investigator

R01EY015298     (ENGLE, ELIZABETH C.)Feb 1, 2004 - Mar 31, 2016
NIH/NEI
Genetic Etiologies of Horizontal Strabismus
Role: Principal Investigator

R01EY013583     (ENGLE, ELIZABETH C.)Aug 20, 2001 - Nov 30, 2011
NIH/NEI
Genetic and anatomic basis of the fibrosis syndromes
Role: Principal Investigator

P01NS040828     (KUNKEL, LOUIS M)Dec 1, 2000 - Mar 31, 2012
NIH/NINDS
Gene expression in normal &diseased muscle development
Role: Co-Principal Investigator

Collapse Bibliographic 
Collapse selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Marsh APL, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Méneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, Billette de Villemeur T, Walsh CA, Yu TW, Heron D, Sherr EH, Richards LJ, Depienne C, Leventer RJ, Lockhart PJ. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. Hum Mutat. 2017 Oct 25. PMID: 29068161.
    View in: PubMed
  2. Tischfield MA, Robson CD, Gilette NM, Chim SM, Sofela FA, DeLisle MM, Gelber A, Barry BJ, MacKinnon S, Dagi LR, Nathans J, Engle EC. Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura. Dev Cell. 2017 Sep 11; 42(5):445-461.e5. PMID: 28844842.
    View in: PubMed
  3. Telegrafi A, Webb BD, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L, Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manoli I, Engle EC, Jabs EW, Valle D, Carey J, Hoover-Fong JE, Sobreira NLM. Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. Am J Med Genet A. 2017 Oct; 173(10):2763-2771. PMID: 28777491.
    View in: PubMed
  4. Whitman MC, Engle EC. Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance. Hum Mol Genet. 2017 Aug 01; 26(R1):R37-R44. PMID: 28459979.
    View in: PubMed
  5. Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN, Carey JC, Robertson SP, Manoli I, Engle EC. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nat Commun. 2017 Jul 06; 8:16077. PMID: 28681861.
    View in: PubMed
  6. Michalak SM, Whitman MC, Park JG, Tischfield MA, Nguyen EH, Engle EC. Ocular Motor Nerve Development in the Presence and Absence of Extraocular Muscle. Invest Ophthalmol Vis Sci. 2017 Apr 01; 58(4):2388-2396. PMID: 28437527.
    View in: PubMed
  7. Nugent AA, Park JG, Wei Y, Tenney AP, Gilette NM, DeLisle MM, Chan WM, Cheng L, Engle EC. Mutant a2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome. J Clin Invest. 2017 May 01; 127(5):1664-1682. PMID: 28346224.
    View in: PubMed
  8. Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW. Biallelic mutations in human DCC cause developmental split-brain syndrome. Nat Genet. 2017 Apr; 49(4):606-612. PMID: 28250456.
    View in: PubMed
  9. Park JG, Tischfield MA, Nugent AA, Cheng L, Di Gioia SA, Chan WM, Maconachie G, Bosley TM, Summers CG, Hunter DG, Robson CD, Gottlob I, Engle EC. Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. Am J Hum Genet. 2016 Jun 02; 98(6):1220-1227. PMID: 27181683; PMCID: PMC4908193 [Available on 12/02/16].
  10. Brownstein CA, Kleiman RJ, Engle EC, Towne MC, D'Angelo EJ, Yu TW, Beggs AH, Picker J, Fogler JM, Carroll D, Schmitt RC, Wolff RR, Shen Y, Lip V, Bilguvar K, Kim A, Tembulkar S, O'Donnell K, Gonzalez-Heydrich J. Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. Am J Med Genet A. 2016 May; 170A(5):1165-73. PMID: 26887912; PMCID: PMC4833544 [Available on 05/01/17].
  11. Whitman MC, Andrews C, Chan WM, Tischfield MA, Stasheff SF, Brancati F, Ortiz-Gonzalez X, Nuovo S, Garaci F, MacKinnon SE, Hunter DG, Grant PE, Engle EC. Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. Am J Med Genet A. 2016 Feb; 170A(2):297-305. PMID: 26639658; PMCID: PMC4770801 [Available on 02/01/17].
  12. Balasubramanian R, Chew S, MacKinnon SE, Kang PB, Andrews C, Chan WM, Engle EC. Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome. J Clin Endocrinol Metab. 2015 Mar; 100(3):E473-7. PMID: 25559402; PMCID: PMC4333039.
  13. Smpokou P, Samanta M, Berry GT, Hecht L, Engle EC, Lichter-Konecki U. Menkes disease in affected females: the clinical disease spectrum. Am J Med Genet A. 2015 Feb; 167A(2):417-20. PMID: 25428120; PMCID: PMC4351723.
  14. Khan AO, Almutlaq M, Oystreck DT, Engle EC, Abu-Amero K, Bosley T. Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2. Ophthalmic Genet. 2016 Jun; 37(2):130-6. PMID: 24940936; PMCID: PMC4270951.
  15. Cheng L, Desai J, Miranda CJ, Duncan JS, Qiu W, Nugent AA, Kolpak AL, Wu CC, Drokhlyansky E, Delisle MM, Chan WM, Wei Y, Propst F, Reck-Peterson SL, Fritzsch B, Engle EC. Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling. Neuron. 2014 Apr 16; 82(2):334-49. PMID: 24656932; PMCID: PMC4002761.
  16. MacKinnon S, Oystreck DT, Andrews C, Chan WM, Hunter DG, Engle EC. Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. Ophthalmology. 2014 Jul; 121(7):1461-8. PMID: 24612975; PMCID: PMC4082742.
  17. Irahara K, Saito Y, Sugai K, Nakagawa E, Saito T, Komaki H, Nakata Y, Sato N, Baba K, Yamamoto T, Chan WM, Andrews C, Engle EC, Sasaki M. Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome. Pediatr Neurol. 2014 Apr; 50(4):384-8. PMID: 24507697; PMCID: PMC3959267.
  18. Shaaban S, Ramos-Platt L, Gilles FH, Chan WM, Andrews C, De Girolami U, Demer J, Engle EC. RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia. JAMA Ophthalmol. 2013 Dec; 131(12):1532-40. PMID: 24091937; PMCID: PMC3865174.
  19. Baris HN, Chan WM, Andrews C, Behar DM, Donovan DJ, Morton CC, Ranells J, Pal T, Ligon AH, Engle EC. Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome. Clin Case Rep. 2013 Oct 01; 1(1). PMID: 24416505.
    View in: PubMed
  20. Graeber CP, Hunter DG, Engle EC. The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease. Semin Ophthalmol. 2013 Sep-Nov; 28(5-6):427-37. PMID: 24138051; PMCID: PMC4098966.
  21. Thomas S, Thomas MG, Andrews C, Chan WM, Proudlock FA, McLean RJ, Pradeep A, Engle EC, Gottlob I. Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation. Eur J Hum Genet. 2014 Mar; 22(3):344-9. PMID: 23942204; PMCID: PMC3925285.
  22. Shaaban S, Duzcan F, Yildirim C, Chan WM, Andrews C, Akarsu NA, Engle EC. Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. Clin Genet. 2014 Jun; 85(6):562-7. PMID: 23808592; PMCID: PMC3883930.
  23. Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF, Jabs EW, Hunter DG, Grant PE, Engle EC. A novel syndrome caused by the E410K amino acid substitution in the neuronal ß-tubulin isotype 3. Brain. 2013 Feb; 136(Pt 2):522-35. PMID: 23378218; PMCID: PMC3572929.
  24. Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan WM, Andrews C, Chew S, Jamieson RV, Gomes L, Flaherty M, Grant PE, Gupta ML, Engle EC. An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. Hum Mol Genet. 2012 Dec 15; 21(26):5484-99. PMID: 23001566; PMCID: PMC3516133.
  25. Webb BD, Shaaban S, Gaspar H, Cunha LF, Schubert CR, Hao K, Robson CD, Chan WM, Andrews C, MacKinnon S, Oystreck DT, Hunter DG, Iacovelli AJ, Ye X, Camminady A, Engle EC, Jabs EW. HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. Am J Hum Genet. 2012 Jul 13; 91(1):171-9. PMID: 22770981; PMCID: PMC3397264.
  26. Desai J, Velo MP, Yamada K, Overman LM, Engle EC. Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Gene Expr Patterns. 2012 May-Jun; 12(5-6):180-8. PMID: 22465342; PMCID: PMC3358471.
  27. Nugent AA, Kolpak AL, Engle EC. Human disorders of axon guidance. Curr Opin Neurobiol. 2012 Oct; 22(5):837-43. PMID: 22398400; PMCID: PMC3388149.
  28. Garcia-Martin E, Pinilla I, Almarcegui C, Fernandez J, Engle EC, Ramos FJ. Ocular manifestations (strabismus: duane syndrome; and retinal nerve fiber hypoplasia) in okihiro syndrome (duane radial ray syndrome). Binocul Vis Strabolog Q Simms Romano. 2012; 27(4):235-42. PMID: 23234485; PMCID: PMC3856715.
  29. VanderVeen DK, Andrews C, Nihalani BR, Engle EC. Crystalline cataract caused by a heterozygous missense mutation in ?D-crystallin (CRYGD). Mol Vis. 2011; 17:3333-8. PMID: 22219628; PMCID: PMC3247172.
  30. Högen T, Chan WM, Riedel E, Brüning R, Chang HH, Engle EC, Danek A. Wildervanck's syndrome and mirror movements: a congenital disorder of axon migration? J Neurol. 2012 Apr; 259(4):761-3. PMID: 21947222; PMCID: PMC3517171.
  31. Miyake N, Demer JL, Shaaban S, Andrews C, Chan WM, Christiansen SP, Hunter DG, Engle EC. Expansion of the CHN1 strabismus phenotype. Invest Ophthalmol Vis Sci. 2011 Aug 11; 52(9):6321-8. PMID: 21715346; PMCID: PMC3175992.
  32. Chan WM, Miyake N, Zhu-Tam L, Andrews C, Engle EC. Two novel CHN1 mutations in 2 families with Duane retraction syndrome. Arch Ophthalmol. 2011 May; 129(5):649-52. PMID: 21555619; PMCID: PMC3517173.
  33. Thomas MG, Kumar A, Mohammad S, Proudlock FA, Engle EC, Andrews C, Chan WM, Thomas S, Gottlob I. Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity? Ophthalmology. 2011 Aug; 118(8):1653-60. PMID: 21529956.
    View in: PubMed
  34. Oystreck DT, Engle EC, Bosley TM. Recent progress in understanding congenital cranial dysinnervation disorders. J Neuroophthalmol. 2011 Mar; 31(1):69-77. PMID: 21317732; PMCID: PMC3524829.
  35. Tischfield MA, Cederquist GY, Gupta ML, Engle EC. Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations. Curr Opin Genet Dev. 2011 Jun; 21(3):286-94. PMID: 21292473; PMCID: PMC3100401.
  36. Walsh CA, Engle EC. Allelic diversity in human developmental neurogenetics: insights into biology and disease. Neuron. 2010 Oct 21; 68(2):245-53. PMID: 20955932; PMCID: PMC3010396.
  37. Yang X, Yamada K, Katz B, Guan H, Wang L, Andrews C, Zhao G, Engle EC, Chen H, Tong Z, Kong J, Hu C, Kong Q, Fan G, Wang Z, Ning M, Zhang S, Xu J, Zhang K. KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). Mol Vis. 2010 Oct 13; 16:2062-70. PMID: 21042561; PMCID: PMC2965570.
  38. Ching MS, Shen Y, Tan WH, Jeste SS, Morrow EM, Chen X, Mukaddes NM, Yoo SY, Hanson E, Hundley R, Austin C, Becker RE, Berry GT, Driscoll K, Engle EC, Friedman S, Gusella JF, Hisama FM, Irons MB, Lafiosca T, LeClair E, Miller DT, Neessen M, Picker JD, Rappaport L, Rooney CM, Sarco DP, Stoler JM, Walsh CA, Wolff RR, Zhang T, Nasir RH, Wu BL. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 05; 153B(4):937-47. PMID: 20468056; PMCID: PMC3001124.
  39. Tischfield MA, Engle EC. 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 Apr 15; 30(5):319-30. PMID: 20406197; PMCID: PMC3319081.
  40. Demer JL, Clark RA, Tischfield MA, Engle EC. Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations. Invest Ophthalmol Vis Sci. 2010 Sep; 51(9):4600-11. PMID: 20393110; PMCID: PMC2941178.
  41. Engle EC. Human genetic disorders of axon guidance. Cold Spring Harb Perspect Biol. 2010 Mar; 2(3):a001784. PMID: 20300212; PMCID: PMC2829956.
  42. Rankin JK, Andrews C, Chan WM, Engle EC. HOXA1 mutations are not a common cause of Möbius syndrome. J AAPOS. 2010 Feb; 14(1):78-80. PMID: 20227628; PMCID: PMC2862693.
  43. Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcátegui CE, de Uzcátegui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Møller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML, Pellman D, Engle EC. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell. 2010 Jan 08; 140(1):74-87. PMID: 20074521; PMCID: PMC3164117.
  44. Miyake N, Andrews C, Fan W, He W, Chan WM, Engle EC. CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. Am J Med Genet A. 2010 Jan; 152A(1):215-7. PMID: 20034095; PMCID: PMC2801889.
  45. Oystreck DT, Khan AO, Vila-Coro AA, Oworu O, Al-Tassan N, Chan WM, Engle EC, Bosley TM. Synergistic divergence: a distinct ocular motility dysinnervation pattern. Invest Ophthalmol Vis Sci. 2009 Nov; 50(11):5213-6. PMID: 19578026; PMCID: PMC2787189.
  46. Murillo-Correa CE, Kon-Jara V, Engle EC, Zenteno JC. Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome. J AAPOS. 2009 Jun; 13(3):245-8. PMID: 19541263; PMCID: PMC2702258.
  47. Flaherty MP, Balachandran C, Jamieson R, Engle EC. Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata. Ophthalmic Genet. 2009 Jun; 30(2):91-5. PMID: 19373680; PMCID: PMC2671641.
  48. 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 Aug 08; 321(5890):839-43. PMID: 18653847; PMCID: PMC2593867.
  49. Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP. The clinical spectrum of homozygous HOXA1 mutations. Am J Med Genet A. 2008 May 15; 146A(10):1235-40. PMID: 18412118; PMCID: PMC3517166.
  50. Dumars S, Andrews C, Chan WM, Engle EC, Demer JL. Magnetic resonance imaging of the endophenotype of a novel familial Möbius-like syndrome. J AAPOS. 2008 Aug; 12(4):381-9. PMID: 18455936; PMCID: PMC2562269.
  51. Heidary G, Engle EC, Hunter DG. Congenital fibrosis of the extraocular muscles. Semin Ophthalmol. 2008 Jan-Feb; 23(1):3-8. PMID: 18214786.
    View in: PubMed
  52. Demer JL, Clark RA, Lim KH, Engle EC. Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome. Invest Ophthalmol Vis Sci. 2007 Dec; 48(12):5505-11. PMID: 18055799; PMCID: PMC2775804.
  53. Bosley TM, Salih MA, Alorainy IA, Oystreck DT, Nester M, Abu-Amero KK, Tischfield MA, Engle EC. Clinical characterization of the HOXA1 syndrome BSAS variant. Neurology. 2007 Sep 18; 69(12):1245-53. PMID: 17875913; PMCID: PMC2826214.
  54. 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 May 18; 8:26. PMID: 17511870; PMCID: PMC1888713.
  55. Engle EC. Oculomotility disorders arising from disruptions in brainstem motor neuron development. Arch Neurol. 2007 May; 64(5):633-7. PMID: 17502461.
    View in: PubMed
  56. Lim KH, Engle EC, Demer JL. Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy. Invest Ophthalmol Vis Sci. 2007 Apr; 48(4):1601-6. PMID: 17389489; PMCID: PMC2262868.
  57. Engle EC. Genetic basis of congenital strabismus. Arch Ophthalmol. 2007 Feb; 125(2):189-95. PMID: 17296894.
    View in: PubMed
  58. Demer JL, Clark RA, Lim KH, Engle EC. Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus. Invest Ophthalmol Vis Sci. 2007 Jan; 48(1):194-202. PMID: 17197533; PMCID: PMC1850629.
  59. Engle EC, Andrews C, Law K, Demer JL. Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus. Invest Ophthalmol Vis Sci. 2007 Jan; 48(1):189-93. PMID: 17197532; PMCID: PMC2829295.
  60. Sicotte NL, Salamon G, Shattuck DW, Hageman N, Rüb U, Salamon N, Drain AE, Demer JL, Engle EC, Alger JR, Baloh RW, Deller T, Jen JC. Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations. Neurology. 2006 Aug 08; 67(3):519-21. PMID: 16894121.
    View in: PubMed
  61. Bosley TM, Oystreck DT, Robertson RL, al Awad A, Abu-Amero K, Engle EC. Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. Brain. 2006 Sep; 129(Pt 9):2363-74. PMID: 16815872.
    View in: PubMed
  62. Tischfield MA, Chan WM, Grunert JF, Andrews C, Engle EC. HOXA1 mutations are not a common cause of Duane anomaly. Am J Med Genet A. 2006 Apr 15; 140(8):900-2. PMID: 16528738; PMCID: PMC2553396.
  63. 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 Apr; 10(2):135-42. PMID: 16678748; PMCID: PMC1847327.
  64. Engle EC. The genetic basis of complex strabismus. Pediatr Res. 2006 Mar; 59(3):343-8. PMID: 16492969.
    View in: PubMed
  65. Chan WM, Traboulsi EI, Arthur B, Friedman N, Andrews C, Engle EC. Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. J Med Genet. 2006 Mar; 43(3):e11. PMID: 16525029; PMCID: PMC2563249.
  66. Tischfield MA, Bosley TM, Salih MA, Alorainy IA, Sener EC, Nester MJ, Oystreck DT, Chan WM, Andrews C, Erickson RP, Engle EC. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nat Genet. 2005 Oct; 37(10):1035-7. PMID: 16155570.
    View in: PubMed
  67. Yamada K, Hunter DG, Andrews C, Engle EC. A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. Arch Ophthalmol. 2005 Sep; 123(9):1254-9. PMID: 16157808.
    View in: PubMed
  68. Demer JL, Clark RA, Engle EC. Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. Invest Ophthalmol Vis Sci. 2005 Feb; 46(2):530-9. PMID: 15671279.
    View in: PubMed
  69. Traboulsi EI, Engle EC. Mutations in KIF21A are responsible for CFEOM1 worldwide. Ophthalmic Genet. 2004 Dec; 25(4):237-9. PMID: 15621875.
    View in: PubMed
  70. Yamada K, Chan WM, Andrews C, Bosley TM, Sener EC, Zwaan JT, Mullaney PB, Oztürk BT, Akarsu AN, Sabol LJ, Demer JL, Sullivan TJ, Gottlob I, Roggenkäemper P, Mackey DA, De Uzcategui CE, Uzcategui N, Ben-Zeev B, Traboulsi EI, Magli A, de Berardinis T, Gagliardi V, Awasthi-Patney S, Vogel MC, Rizzo JF, Engle EC. Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Invest Ophthalmol Vis Sci. 2004 Jul; 45(7):2218-23. PMID: 15223798.
    View in: PubMed
  71. Jen JC, Chan WM, Bosley TM, Wan J, Carr JR, Rüb U, Shattuck D, Salamon G, Kudo LC, Ou J, Lin DD, Salih MA, Kansu T, Al Dhalaan H, Al Zayed Z, MacDonald DB, Stigsby B, Plaitakis A, Dretakis EK, Gottlob I, Pieh C, Traboulsi EI, Wang Q, Wang L, Andrews C, Yamada K, Demer JL, Karim S, Alger JR, Geschwind DH, Deller T, Sicotte NL, Nelson SF, Baloh RW, Engle EC. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science. 2004 Jun 04; 304(5676):1509-13. PMID: 15105459; PMCID: PMC1618874.
  72. Yamada K, Andrews C, Chan WM, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Hart BL, Krawiecki N, Shoffner J, Vogel MC, Katowitz J, Goldstein SM, Levin AV, Sener EC, Ozturk BT, Akarsu AN, Brodsky MC, Hanisch F, Cruse RP, Zubcov AA, Robb RM, Roggenkäemper P, Gottlob I, Kowal L, Battu R, Traboulsi EI, Franceschini P, Newlin A, Demer JL, Engle EC. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet. 2003 Dec; 35(4):318-21. PMID: 14595441.
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  73. Yazdani A, Chung DC, Abbaszadegan MR, Al-Khayer K, Chan WM, Yazdani M, Ghodsi K, Engle EC, Traboulsi EI. A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). Am J Ophthalmol. 2003 Nov; 136(5):861-5. PMID: 14597037.
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  74. Gutowski NJ, Bosley TM, Engle EC. 110th ENMC International Workshop: the congenital cranial dysinnervation disorders (CCDDs). Naarden, The Netherlands, 25-27 October, 2002. Neuromuscul Disord. 2003 Sep; 13(7-8):573-8. PMID: 12921795.
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  75. Uyama E, Yamada K, Kawano H, Chan WM, Andrews C, Yoshioka M, Uchino M, Engle EC. A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region. Neuromuscul Disord. 2003 Aug; 13(6):472-8. PMID: 12899874.
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  76. Pieh C, Goebel HH, Engle EC, Gottlob I. Congenital fibrosis syndrome associated with central nervous system abnormalities. Graefes Arch Clin Exp Ophthalmol. 2003 Jul; 241(7):546-553. PMID: 12819981.
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  77. Ryan MM, Engle EC. Acute ataxia in childhood. J Child Neurol. 2003 May; 18(5):309-16. PMID: 12822814.
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  78. Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC. 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 Nov; 71(5):1195-9. PMID: 12395297; PMCID: PMC385096.
  79. Gottlob I, Jain S, Engle EC. Elevation of one eye during tooth brushing. Am J Ophthalmol. 2002 Sep; 134(3):459-60. PMID: 12208268.
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  80. Iannaccone A, McIntosh N, Ciccarelli ML, Baldi A, Mutolo PA, Tedesco SA, Engle EC. Familial unilateral Brown syndrome. Ophthalmic Genet. 2002 Sep; 23(3):175-84. PMID: 12324876.
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  81. Engle EC, Leigh RJ. Genes, brainstem development, and eye movements. Neurology. 2002 Aug 13; 59(3):304-5. PMID: 12177361.
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  82. Engle EC. The molecular basis of the congenital fibrosis syndromes. Strabismus. 2002 Jun; 10(2):125-8. PMID: 12221491.
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  83. Engle EC. Applications of molecular genetics to the understanding of congenital ocular motility disorders. Ann N Y Acad Sci. 2002 Apr; 956:55-63. PMID: 11960793.
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  84. Mackey DA, Chan WM, Chan C, Gillies WE, Brooks AM, O'Day J, Engle EC. Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. Hum Genet. 2002 May; 110(5):510-2. PMID: 12073023.
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  85. Engle EC, McIntosh N, Yamada K, Lee BA, Johnson R, O'Keefe M, Letson R, London A, Ballard E, Ruttum M, Matsumoto N, Saito N, Collins ML, Morris L, Del Monte M, Magli A, de Berardinis T. CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. BMC Genet. 2002; 3:3. PMID: 11882252; PMCID: PMC100320.
  86. Nakano M, Yamada K, Fain J, Sener EC, Selleck CJ, Awad AH, Zwaan J, Mullaney PB, Bosley TM, Engle EC. Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat Genet. 2001 Nov; 29(3):315-20. PMID: 11600883.
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  87. Flaherty MP, Grattan-Smith P, Steinberg A, Jamieson R, Engle EC. Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia. Ophthalmology. 2001 Jul; 108(7):1313-22. PMID: 11425694.
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  88. O'Brien KF, Engle EC, Kunkel LM. Analysis of human sarcospan as a candidate gene for CFEOM1. BMC Genet. 2001; 2:3. PMID: 11180757; PMCID: PMC29083.
  89. Shivaram SM, Engle EC, Petersen RA, Robb RM. Congenital fibrosis syndromes. Int Ophthalmol Clin. 2001; 41(4):105-13. PMID: 11698741.
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  90. Sener EC, Lee BA, Turgut B, Akarsu AN, Engle EC. A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12. Arch Ophthalmol. 2000 Aug; 118(8):1090-7. PMID: 10922204.
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  91. Traboulsi EI, Lee BA, Mousawi A, Khamis AR, Engle EC. Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles. Am J Ophthalmol. 2000 May; 129(5):658-62. PMID: 10844060.
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  92. Doherty EJ, Macy ME, Wang SM, Dykeman CP, Melanson MT, Engle EC. CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Invest Ophthalmol Vis Sci. 1999 Jul; 40(8):1687-94. PMID: 10393037.
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  93. Engle E. A genetic approach to congenital extraocular muscle disorders. J Child Neurol. 1999 Jan; 14(1):34-7. PMID: 10223849.
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  94. Wang SM, Zwaan J, Mullaney PB, Jabak MH, Al-Awad A, Beggs AH, Engle EC. Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. Am J Hum Genet. 1998 Aug; 63(2):517-25. PMID: 9683611; PMCID: PMC1377321.
  95. Swoboda KJ, Engle EC, Scheindlin B, Anthony DC, Jones HR. Mutilating hand syndrome in an infant with familial carpal tunnel syndrome. Muscle Nerve. 1998 Jan; 21(1):104-11. PMID: 9427229.
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  96. Engle EC, Castro AE, Macy ME, Knoll JH, Beggs AH. A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1. Am J Hum Genet. 1997 May; 60(5):1150-7. PMID: 9150162; PMCID: PMC1712439.
  97. Engle EC, Goumnerov BC, McKeown CA, Schatz M, Johns DR, Porter JD, Beggs AH. Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Ann Neurol. 1997 Mar; 41(3):314-25. PMID: 9066352.
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  98. Engle EC, Marondel I, Houtman WA, de Vries B, Loewenstein A, Lazar M, Ward DC, Kucherlapati R, Beggs AH. Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. Am J Hum Genet. 1995 Nov; 57(5):1086-94. PMID: 7485159; PMCID: PMC1801372.
  99. Khurana TS, Engle EC, Bennett RR, Silverman GA, Selig S, Bruns GA, Kunkel LM. (CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein. Hum Mol Genet. 1994 May; 3(5):841. PMID: 8081380.
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  100. Engle EC, Kunkel LM, Specht LA, Beggs AH. Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nat Genet. 1994 May; 7(1):69-73. PMID: 8075644.
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  101. Dangond F, Engle E, Yessayan L, Sawyer MH. Pre-eruptive varicella cerebellitis confirmed by PCR. Pediatr Neurol. 1993 Nov-Dec; 9(6):491-3. PMID: 7605561.
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  102. Petri M, Genovese M, Engle E, Hochberg M. Definition, incidence, and clinical description of flare in systemic lupus erythematosus. A prospective cohort study. Arthritis Rheum. 1991 Aug; 34(8):937-44. PMID: 1859487.
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  103. Engle EC, Manes SH, Drlica K. Differential effects of antibiotics inhibiting gyrase. J Bacteriol. 1982 Jan; 149(1):92-8. PMID: 6274849; PMCID: PMC216595.
  104. Drlica K, Engle EC, Manes SH. DNA gyrase on the bacterial chromosome: possibility of two levels of action. Proc Natl Acad Sci U S A. 1980 Nov; 77(11):6879-83. PMID: 6256766; PMCID: PMC350394.
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