Dr. Elizabeth Engle, MD

• Pediatric Neurology

*Healthgrades does not verify qualifications for medical specialties. Please verify your provider's specialty and qualifications directly with your provider and applicable medical board.

• Boston Children's Hospital, Research Fellow In Genetics

  Fellowship Hospital, 1996

• Combined Harvard Neurology Training Program, Boston Children's Hospital

  Residency Hospital, 1992

• Combined Harvard Neurology Training Program, Boston Children's Hospital|johns Hopkins Hospital, Combined Residency Program, Pediatrics|massachusetts General Hospital, Neuropathology|massacnusetts General Hospital

  Residency Hospital, 1992

• Massachusetts General Hospital, Neuropathology

  Residency Hospital, 1989

• Massacnusetts General Hospital

  Residency Hospital, 1989

• Johns Hopkins Hospital

  Internship Hospital, 1988

• Johns Hopkins Hospital, Combined Residency Program, Pediatrics

  Residency Hospital, 1988

• Johns Hopkins School Of Medicine

  Medical School, 1985

• Johns Hopkins University

  Medical School, 1985

• Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1), 2012-03-23

• Two UniqueTUBB3Mutations Cause Both CFEOM3 and Malformations of Cortical Development, 2015-12-06

• Deletions ofNRXN1(neurexin-1) predispose to a wide spectrum of developmental disorders, 2010-06-05

• A framework for the evaluation of patients with congenital facial weakness, 2021-04-07

• HOXA1mutations are not a common cause of Mobius syndrome, 2010-04-08

• Deletions ofNRXN1(Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders, 2010-04-07

• KIF21Amutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM), 2010-10-13

• Retinal dysfunction in patients with congenital fibrosis of the extraocular muscles type 2, 2014-06-18

• Phenotype Delineation ofZNF462related syndrome, 2019-07-30

• Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis, 2023-06-29

• Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling, 2014-03-20

• Congenital monocular elevation deficiency associated with a novelTUBB3gene variant, 2019-07-13

• Diagnostic distinctions and genetic analysis of patients diagnosed with Moebius syndrome, 2014-03-06

• Isolation and culture of oculomotor, trochlear, and spinal motor neurons from prenatalIslMN:GFPtransgenic mice, 2019-11-12

• Congenital Fibrosis of the Extraocular Muscles Type 1, Distinctive Conjunctival Changes and Intrapapillary Disc Colobomata, 2009-04-03

• Biallelic Mutations In HumanDCCCause Developmental Split Brain Syndrome, 2017-02-27

• Phenotypic spectrum of the Tubulin-related Disorders and Functional Implications of Disease-causing Mutations, 2011-02-01

• Clinical features associated with an I126M a2-chimaerin mutation in a family with autosomal dominant Duane retraction syndrome, 2009-04-24

• A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome, 2017-07-06

• Ex vivo oculomotor slice culture from embryonic GFP-expressing mice for time-lapse imaging of oculomotor nerve outgrowth, 2019-07-16

• RYR1mutations cause ophthalmoplegia, facial weakness, and malignant hyperthermia, 2013-12-01

• Stem cell-derived cranial and spinal motor neurons reveal proteostatic differences between ALS resistant and sensitive motor neurons, 2019-06-03

• HumanTUBB3mutations perturb microtubule dynamics, kinesin interactions, and axon guidance, 2010-01-08

• Wildervanck's syndrome and mirror movements: a congenital disorder of axon migration?, 2011-09-23

• HumanCHN1mutations hyperactivate a2-chimaerin and cause Duane's retraction syndrome, 2008-07-24

• The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISDgene, 2019-07-02

• CHN1Mutations are not a Common Cause of Sporadic Duane's Retraction Syndrome, 2009-10-14

• TUBB3 and KIF21A in neurodevelopment and disease, 2023-08-04

• Outcomes of Strabismus Surgery in Genetically Confirmed Congenital Fibrosis of the Extraocular Muscles, 2019-09-18

• Expanding the phenotypic spectrum ofECEL1-related congenital contracture syndromes, 2013-07-19

• Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1, 2007-05-18

• Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration, 2018-08-14

• Identification ofSTAC3variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome, 2017-08-04

• Etv1 Controls the Establishment of Non-overlapping Motor Innervation of Neighboring Facial Muscles during Development, 2019-10-08

• Recessive variants inCOL25A1gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder, 2022-02-03

• Crystalline cataract caused by a heterozygous missense mutation in ?D-crystallin (CRYGD), 2011-12-20

• Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome, 2013-09-30

• Pontine malformation, undecussated pyramidal tracts and regional polymicrogyria: a new syndrome, 2013-12-17

• 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, 2016-02-16

• Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles, 2021-03-04

• Synergistic divergence: a distinct ocular motility dysinnervation pattern, 2009-07-02

• Distinct a and ß-tubulin isotypes are required for the positioning, differentiation, and survival of neurons: new support for the "multi-tubulin” hypothesis, 2010-04-15

• Nuclear IMPDH filaments in human gliomas, 2021-10-26

• Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multi-centre Study, 2022-02-11

• DCCmutation update: congenital mirror movements, isolated agenesis of the corpus callosum and developmental split brain syndrome, 2017-11-11

• TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy, 2021-10-15

• TWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse, 2022-08-06

• The Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of Disease The Genetic Basis of Incomitant Strabismus, 2014-05-30

• Deleteriousde novovariants of X-linkedZC4H2in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita, 2019-08-21

• Cerebral vein malformations result from loss of Twist1 expression and BMP signaling from skull progenitor cells and dura, 2017-08-30

• Recurrent Rare Copy Number Variants Increase Risk for Esotropia, 2020-08-11

• Human Disorders of Axon Guidance, 2012-03-05