Elizabeth C Engle MD
Professor of Neurology & Ophthalmology, Boston Children's Hospital, Investigator HHMI
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300 Longwood Ave# FeganBoston, MA 02115
Phone+1 617-355-6388
Fax+1 617-730-0284
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Education & Training
Johns Hopkins UniversityResidency, Pediatrics, 1985 - 1988- Johns Hopkins University School of MedicineClass of 1985
Certifications & Licensure
MA State Medical License 1992 - 2027
OH State Medical License 1985 - 1986
American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology
Awards, Honors, & Recognition
- Investigator Howard Hughes Medical Institute
Clinical Trials
- Study on Moebius Syndrome and Congenital Facial Weakness Disorders Start of enrollment: 2014 May 20
- Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Start of enrollment: 2004 Feb 01
Publications & Presentations
PubMed
- Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays.Julie A Jurgens, Paola M Matos Ruiz, Jessica King, Emma E Foster, Lindsay Berube
Investigative Ophthalmology & Visual Science. 2025-03-03 - A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.Arthur S Lee, Lauren J Ayers, Michael Kosicki, Wai-Man Chan, Lydia N Fozo
Nature Communications. 2024-09-27 - 1 citationsGene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays.Julie A Jurgens, Paola M Matos Ruiz, Jessica King, Emma E Foster, Lindsay Berube
Biorxiv. 2024-09-15
Journal Articles
- Loss of CXCR4/CXCL12 Signaling Causes Oculomotor Nerve Misrouting and Development of Motor Trigeminal to Oculomotor SynkinesisMary C Whitman, Elizabeth C Engle, Investigative Ophthalmology and Visual Science
- Altered White Matter Organization in the TUBB3 E410K SyndromeP Ellen Grant, Elizabeth C Engle, Caroline D Robson, Sheena Chew, Cerebral Cortex
- Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin EffectDavid G Hunter, Sarah U Morton, Elizabeth C Engle, Mary C Whitman, Elias I Traboulsi, Investigative Ophthalmology and Visual Science
Press Mentions
Two Boston Children's Hospital Faculty Members Elected to National Academy of MedicineOctober 29th, 2019
NIH and Collaborators Identify the Genomic Cause for Carey-Fineman-Ziter SyndromeJuly 6th, 2017
Engle Set for Next Discovery LectureSeptember 29th, 2016
Grant Support
- Developmental NeurologyBOSTON CHILDREN'S HOSPITAL1999–2026
- Molecular Basis Of Congenital StrabismusNational Eye Institute1999–2012
- Genetic Etiologies Of Horizontal StrabismusNational Eye Institute2004–2011
- Genetic And Anatomic Basis Of The Fibrosis SyndromesNational Eye Institute2001–2011
- Genetic Studies Of Disorders Of Eye And Eyelid MovementsNational Center For Research Resources2007
- Genetic Studies Of Patients And Their Families With Disorders Of Eye And EyelidNational Center For Research Resources2006
- Core--Clinical Specimen And DataNational Institute Of Neurological Disorders And Stroke2001–2002
- Cloning Of A Congenital Extraocular Muscle Fibrosis GeneNational Eye Institute1994–1998
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