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Elizabeth Carson Engle, M.D.

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Mentoring
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.

Identification and characterization of noncoding variants in hereditary congenital facial paralysis
Part Time, 02/06/17 - 12/31/17
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

Research
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.
  1. 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
  2. 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
  3. R01EY015298 (ENGLE, ELIZABETH C.) Feb 1, 2004 - Mar 31, 2016
    NIH/NEI
    Genetic Etiologies of Horizontal Strabismus
    Role: Principal Investigator
  4. R01EY013583 (ENGLE, ELIZABETH C.) Aug 20, 2001 - Nov 30, 2011
    NIH/NEI
    Genetic and anatomic basis of the fibrosis syndromes
    Role: Principal Investigator
  5. P01NS040828 (KUNKEL, LOUIS M) Dec 1, 2000 - Mar 31, 2012
    NIH/NINDS
    Gene expression in normal &diseased muscle development
    Role: Co-Principal Investigator

Bibliographic
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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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. An D, Fujiki R, Iannitelli DE, Smerdon JW, Maity S, Rose MF, Gelber A, Wanaselja EK, Yagudayeva I, Lee JY, Vogel C, Wichterle H, Engle EC, Mazzoni EO. Stem cell-derived cranial and spinal motor neurons reveal proteostatic differences between ALS resistant and sensitive motor neurons. Elife. 2019 Jun 03; 8. PMID: 31157617.
    Citations:    
  2. Berry S, Giraldo N, Nguyen P, Green B, Xu H, Ogurtsova A, Soni A, Succaria F, Wang D, Roberts C, Stein J, Engle E, Pardoll D, Anders R, Cottrell T, Taube JM, Tran B, Voskoboynik M, Kuo J, Bang YL, Chung HC, Ahn MJ, Kim SW, Perera A, Freeman D, Achour I, Faggioni R, Xiao F, Ferte C, Lemech C, Meric-Bernstam F, Werner T, Hodi S, Messersmith W, Lewis N, Talluto C, Dostalek M, Tao A, McWhirter S, Trujillo D, Luke J, Xu C, Qi J, Qin G, Yu H, Jenkins M, Lo KM, Halle JP, Lan Y, Taylor M, Vogelzang N, Cohn A, Stepan D, Shumaker R, Dutcus C, Guo M, Schmidt E, Rasco D, Brose M, Vogelzang N, Di Simone C, Jain S, Richards D, Encarnacion C, Rasco D, Shumaker R, Dutcus C, Stepan D, Guo M, Schmidt E, Taylor M, Vogelzang N, Encarnacion C, Cohn A, Di Simone C, Rasco D, Richards D, Taylor M, Dutcus C, Stepan D, Shumaker R, Guo M, Schmidt E, Mier J, An J, Yang YY, Lee WH, Yang J, Kim JK, Kim HG, Paek SH, Lee JW, Woo J, Kim JB, Kwon H, Lim W, Paik NS, Kim YK, Moon BI, Janku F, Tan D, Martin-Liberal J, Takahashi S, Geva R, Gucalp A, Chen X, Subramanian K, Mataraza J, Wheler J, Bedard P. Correction to: 33rd Annual Meeting & Pre-Conference Programs of the Society for Immunotherapy of Cancer (SITC 2018). J Immunother Cancer. 2019 Feb 13; 7(1):46. PMID: 30760319.
    Citations:    
  3. Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, Szczaluba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler MM, Bamshad MJ, Nickerson DA, Engle EC, Verheijen FW, Doherty D, Mancini GMS. MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Am J Hum Genet. 2018 12 06; 103(6):1009-1021. PMID: 30471716.
    Citations:    Fields:    
  4. Grant PE, Im K, Ahtam B, Laurentys CT, Chan WM, Brainard M, Chew S, Drottar M, Robson CD, Drmic I, Engle EC. Altered White Matter Organization in the TUBB3 E410K Syndrome. Cereb Cortex. 2018 Oct 01. PMID: 30272120.
    Citations:    Fields:    
  5. Whitman MC, Nguyen EH, Bell JL, Tenney AP, Gelber A, Engle EC. Loss of CXCR4/CXCL12 Signaling Causes Oculomotor Nerve Misrouting and Development of Motor Trigeminal to Oculomotor Synkinesis. Invest Ophthalmol Vis Sci. 2018 10 01; 59(12):5201-5209. PMID: 30372748.
    Citations:    Fields:    
  6. Latremoliere A, Cheng L, DeLisle M, Wu C, Chew S, Hutchinson EB, Sheridan A, Alexandre C, Latremoliere F, Sheu SH, Golidy S, Omura T, Huebner EA, Fan Y, Whitman MC, Nguyen E, Hermawan C, Pierpaoli C, Tischfield MA, Woolf CJ, Engle EC. Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration. Cell Rep. 2018 Aug 14; 24(7):1865-1879.e9. PMID: 30110642.
    Citations:    Fields:    
  7. Shaaban S, MacKinnon S, Andrews C, Staffieri SE, Maconachie GDE, Chan WM, Whitman MC, Morton SU, Yazar S, MacGregor S, Elder JE, Traboulsi EI, Gottlob I, Hewitt AW, Hunter DG, Mackey DA, Engle EC. Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. Invest Ophthalmol Vis Sci. 2018 08 01; 59(10):4054-4064. PMID: 30098192.
    Citations:    Fields:    
  8. Di Gioia SA, Shaaban S, Tüysüz B, Elcioglu NH, Chan WM, Robson CD, Ecklund K, Gilette NM, Hamzaoglu A, Tayfun GA, Traboulsi EI, Engle EC. Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies. Am J Hum Genet. 2018 07 05; 103(1):115-124. PMID: 29887215.
    Citations:    Fields:    
  9. 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. 2018 01; 39(1):23-39. PMID: 29068161.
    Citations:    Fields:    Translation:HumansCells
  10. 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 09 11; 42(5):445-461.e5. PMID: 28844842.
    Citations:    Fields:    Translation:HumansAnimalsCells
  11. 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.
    Citations: 2     Fields:    Translation:Humans
  12. Whitman MC, Engle EC. Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance. Hum Mol Genet. 2017 08 01; 26(R1):R37-R44. PMID: 28459979.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  13. 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 07 06; 8:16077. PMID: 28681861.
    Citations:    
  14. 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 04 01; 58(4):2388-2396. PMID: 28437527.
    Citations: 3     Fields:    Translation:AnimalsCells
  15. 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.
    Citations: 5     Fields:    Translation:HumansAnimalsCells
  16. 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.
    Citations: 7     Fields:    Translation:HumansCells
  17. 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 06 02; 98(6):1220-1227. PMID: 27181683.
    Citations: 7     Fields:    Translation:HumansAnimals
  18. 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.
    Citations: 2     Fields:    Translation:HumansCells
  19. 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.
    Citations: 5     Fields:    Translation:HumansCells
  20. 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.
    Citations: 2     Fields:    Translation:Humans
  21. 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.
    Citations: 2     Fields:    Translation:Humans
  22. 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 06; 37(2):130-6. PMID: 24940936.
    Citations: 2     Fields:    Translation:Humans
  23. 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.
    Citations: 25     Fields:    Translation:HumansAnimalsCells
  24. 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.
    Citations: 10     Fields:    Translation:Humans
  25. 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.
    Citations:    Fields:    Translation:Humans
  26. 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.
    Citations: 5     Fields:    Translation:Humans
  27. 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.
    Citations: 1     
  28. 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.
    Citations: 13     Fields:    Translation:Humans
  29. 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.
    Citations: 8     Fields:    Translation:HumansCells
  30. 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.
    Citations: 4     Fields:    Translation:Humans
  31. 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.
    Citations: 22     Fields:    Translation:HumansCells
  32. 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.
    Citations: 31     Fields:    Translation:HumansCells
  33. 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.
    Citations: 20     Fields:    Translation:HumansAnimalsCells
  34. 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.
    Citations: 3     Fields:    Translation:HumansAnimalsCells
  35. Nugent AA, Kolpak AL, Engle EC. Human disorders of axon guidance. Curr Opin Neurobiol. 2012 Oct; 22(5):837-43. PMID: 22398400.
    Citations: 21     Fields:    Translation:HumansAnimalsCells
  36. 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.
    Citations:    Fields:    Translation:HumansCells
  37. 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.
    Citations: 2     Fields:    Translation:HumansCells
  38. 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.
    Citations: 3     Fields:    Translation:HumansCells
  39. 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.
    Citations: 9     Fields:    Translation:HumansCells
  40. 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.
    Citations: 8     Fields:    Translation:HumansCells
  41. 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.
    Citations: 45     Fields:    Translation:Humans
  42. Oystreck DT, Engle EC, Bosley TM. Recent progress in understanding congenital cranial dysinnervation disorders. J Neuroophthalmol. 2011 Mar; 31(1):69-77. PMID: 21317732.
    Citations: 24     Fields:    Translation:Humans
  43. 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.
    Citations: 70     Fields:    Translation:HumansCells
  44. 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.
    Citations: 18     Fields:    Translation:HumansAnimals
  45. 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.
    Citations: 4     Fields:    Translation:HumansCells
  46. 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.
    Citations: 93     Fields:    Translation:Humans
  47. 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.
    Citations: 25     Fields:    Translation:HumansCells
  48. 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.
    Citations: 16     Fields:    Translation:Humans
  49. Engle EC. Human genetic disorders of axon guidance. Cold Spring Harb Perspect Biol. 2010 Mar; 2(3):a001784. PMID: 20300212.
    Citations: 56     Fields:    Translation:HumansAnimalsCells
  50. 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.
    Citations: 3     Fields:    Translation:Humans
  51. 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.
    Citations: 157     Fields:    Translation:HumansAnimalsCells
  52. 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.
    Citations: 9     Fields:    Translation:HumansCells
  53. 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.
    Citations: 2     Fields:    Translation:Humans
  54. 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.
    Citations: 7     Fields:    Translation:Humans
  55. 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.
    Citations: 1     Fields:    Translation:Humans
  56. 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.
    Citations: 49     Fields:    Translation:HumansAnimalsCells
  57. 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.
    Citations: 28     Fields:    Translation:Humans
  58. 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.
    Citations: 6     Fields:    Translation:Humans
  59. Heidary G, Engle EC, Hunter DG. Congenital fibrosis of the extraocular muscles. Semin Ophthalmol. 2008 Jan-Feb; 23(1):3-8. PMID: 18214786.
    Citations: 14     Fields:    Translation:Humans
  60. 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.
    Citations: 17     Fields:    Translation:HumansCells
  61. 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.
    Citations: 20     Fields:    Translation:Humans
  62. 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.
    Citations: 15     Fields:    Translation:HumansCells
  63. Engle EC. Oculomotility disorders arising from disruptions in brainstem motor neuron development. Arch Neurol. 2007 May; 64(5):633-7. PMID: 17502461.
    Citations: 18     Fields:    Translation:HumansAnimals
  64. 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.
    Citations: 11     Fields:    Translation:Humans
  65. Engle EC. Genetic basis of congenital strabismus. Arch Ophthalmol. 2007 Feb; 125(2):189-95. PMID: 17296894.
    Citations: 23     Fields:    Translation:Humans
  66. 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.
    Citations: 40     Fields:    Translation:HumansCells
  67. 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.
    Citations: 13     Fields:    Translation:HumansCells
  68. 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.
    Citations: 20     Fields:    Translation:Humans
  69. 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.
    Citations: 16     Fields:    Translation:Humans
  70. 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.
    Citations: 7     Fields:    Translation:Humans
  71. 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.
    Citations: 28     Fields:    Translation:Humans
  72. Engle EC. The genetic basis of complex strabismus. Pediatr Res. 2006 Mar; 59(3):343-8. PMID: 16492969.
    Citations: 18     Fields:    Translation:HumansCells
  73. 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.
    Citations: 17     Fields:    Translation:Humans
  74. 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.
    Citations: 73     Fields:    Translation:Humans
  75. 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.
    Citations: 12     Fields:    Translation:Humans
  76. 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.
    Citations: 47     Fields:    Translation:Humans
  77. Traboulsi EI, Engle EC. Mutations in KIF21A are responsible for CFEOM1 worldwide. Ophthalmic Genet. 2004 Dec; 25(4):237-9. PMID: 15621875.
    Citations: 4     Fields:    Translation:Humans
  78. 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.
    Citations: 21     Fields:    Translation:Humans
  79. 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.
    Citations: 86     Fields:    Translation:HumansCells
  80. 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.
    Citations: 60     Fields:    Translation:HumansCells
  81. 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.
    Citations: 9     Fields:    Translation:Humans
  82. 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.
    Citations: 38     Fields:    Translation:Humans
  83. 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.
    Citations: 8     Fields:    Translation:HumansCells
  84. 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.
    Citations: 7     Fields:    Translation:Humans
  85. Ryan MM, Engle EC. Acute ataxia in childhood. J Child Neurol. 2003 May; 18(5):309-16. PMID: 12822814.
    Citations: 7     Fields:    Translation:Humans
  86. 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.
    Citations: 82     Fields:    Translation:HumansCells
  87. Gottlob I, Jain S, Engle EC. Elevation of one eye during tooth brushing. Am J Ophthalmol. 2002 Sep; 134(3):459-60. PMID: 12208268.
    Citations: 7     Fields:    Translation:Humans
  88. 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.
    Citations: 1     Fields:    Translation:Humans
  89. Engle EC, Leigh RJ. Genes, brainstem development, and eye movements. Neurology. 2002 Aug 13; 59(3):304-5. PMID: 12177361.
    Citations: 2     Fields:    Translation:HumansAnimals
  90. Engle EC. The molecular basis of the congenital fibrosis syndromes. Strabismus. 2002 Jun; 10(2):125-8. PMID: 12221491.
    Citations: 6     Fields:    Translation:Humans
  91. 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.
    Citations: 13     Fields:    Translation:Humans
  92. 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.
    Citations: 17     Fields:    Translation:HumansCells
  93. 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.
    Citations: 14     Fields:    Translation:Humans
  94. 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.
    Citations: 51     Fields:    Translation:HumansCells
  95. 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.
    Citations: 9     Fields:    Translation:HumansCells
  96. O'Brien KF, Engle EC, Kunkel LM. Analysis of human sarcospan as a candidate gene for CFEOM1. BMC Genet. 2001; 2:3. PMID: 11180757.
    Citations: 2     Fields:    Translation:HumansCells
  97. Shivaram SM, Engle EC, Petersen RA, Robb RM. Congenital fibrosis syndromes. Int Ophthalmol Clin. 2001; 41(4):105-13. PMID: 11698741.
    Citations: 1     Fields:    Translation:Humans
  98. 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.
    Citations: 11     Fields:    Translation:HumansCells
  99. 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.
    Citations: 3     Fields:    Translation:HumansCells
  100. 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.
    Citations: 28     Fields:    Translation:HumansCells
  101. Engle E. A genetic approach to congenital extraocular muscle disorders. J Child Neurol. 1999 Jan; 14(1):34-7. PMID: 10223849.
    Citations: 1     Fields:    Translation:Humans
  102. 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.
    Citations: 22     Fields:    Translation:HumansCells
  103. 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.
    Citations: 3     Fields:    Translation:HumansCells
  104. 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.
    Citations: 12     Fields:    Translation:HumansCells
  105. 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.
    Citations: 35     Fields:    Translation:HumansCells
  106. 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.
    Citations: 21     Fields:    Translation:HumansCells
  107. 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.
    Citations: 3     Fields:    Translation:HumansCells
  108. 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.
    Citations: 23     Fields:    Translation:HumansCells
  109. 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.
    Citations: 10     Fields:    Translation:HumansCells
  110. 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.
    Citations: 37     Fields:    Translation:Humans
  111. Engle EC, Manes SH, Drlica K. Differential effects of antibiotics inhibiting gyrase. J Bacteriol. 1982 Jan; 149(1):92-8. PMID: 6274849.
    Citations: 22     Fields:    Translation:Cells
  112. 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.
    Citations: 30     Fields:    Translation:Cells
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Funded by the NIH/NCATS Clinical and Translational Science Award (CTSA) program, grant number UL1TR001102, and through institutional support from Harvard University, Harvard Medical School, Harvard T.H. Chan School of Public Health, Beth Israel Deaconess Medical Center, Boston Children's Hospital, Brigham and Women's Hospital, Massachusetts General Hospital and the Dana Farber Cancer Institute.