Elizabeth C. Engle

Department of Ophthalmology, Boston Children's Hospital

Affiliated withBoston Children's Hospital Harvard Medical School Howard Hughes Medical Institute

Research Area

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JoVE Journal Publications

ArticleTotal : 2	Year
Publication title Cited by 5	2019
Publication title Cited by 6	2019

Other Publications

Article	Year
The genetic basis of complex strabismus. Pediatric research\| PubMed ID: 16492969	2006
Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus. Investigative ophthalmology & visual science\| PubMed ID: 17197532	2007
Genetic basis of congenital strabismus. Archives of ophthalmology (Chicago, Ill. : 1960)\| PubMed ID: 17296894	2007
Oculomotility disorders arising from disruptions in brainstem motor neuron development. Archives of neurology\| PubMed ID: 17502461	2007
The clinical spectrum of homozygous HOXA1 mutations. American journal of medical genetics. Part A\| PubMed ID: 18412118	2008
Human genetic disorders of axon guidance. Cold Spring Harbor perspectives in biology\| PubMed ID: 20300212	2010
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. American journal of human genetics\| PubMed ID: 22770981	2012
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. Human molecular genetics\| PubMed ID: 23001566	2012
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. Brain : a journal of neurology\| PubMed ID: 23378218	2013
Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. Clinical genetics\| PubMed ID: 23808592	2014
Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation. European journal of human genetics : EJHG\| PubMed ID: 23942204	2014
RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia. JAMA ophthalmology\| PubMed ID: 24091937	2013
The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease. Seminars in ophthalmology\| PubMed ID: 24138051	2013
Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome. Clinical case reports\| PubMed ID: 24416505	2013
Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. Ophthalmology\| PubMed ID: 24612975	2014
Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling. Neuron\| PubMed ID: 24656932	2014
Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome. The Journal of clinical endocrinology and metabolism\| PubMed ID: 25559402	2015
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. American journal of medical genetics. Part A\| PubMed ID: 26639658	2016
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 rep... American journal of medical genetics. Part A\| PubMed ID: 26887912	2016
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. American journal of human genetics\| PubMed ID: 27181683	2016
Biallelic mutations in human DCC cause developmental split-brain syndrome. Nature genetics\| PubMed ID: 28250456	2017
Mutant α2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome. The Journal of clinical investigation\| PubMed ID: 28346224	2017
Ocular Motor Nerve Development in the Presence and Absence of Extraocular Muscle. Investigative ophthalmology & visual science\| PubMed ID: 28437527	2017
Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance. Human molecular genetics\| PubMed ID: 28459979	2017
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nature communications\| PubMed ID: 28681861	2017
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. American journal of medical genetics. Part A\| PubMed ID: 28777491	2017
Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura. Developmental cell\| PubMed ID: 28844842	2017
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. Human mutation\| PubMed ID: 29068161	2017
Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies. American journal of human genetics\| PubMed ID: 29887215	2018
Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. Investigative ophthalmology & visual science\| PubMed ID: 30098192	2018
Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration. Cell reports\| PubMed ID: 30110642	2018
Altered White Matter Organization in the TUBB3 E410K Syndrome. Cerebral cortex (New York, N.Y. : 1991)\| PubMed ID: 30272120	2018
Loss of CXCR4/CXCL12 Signaling Causes Oculomotor Nerve Misrouting and Development of Motor Trigeminal to Oculomotor Synkinesis. Investigative ophthalmology & visual science\| PubMed ID: 30372748	2018
Stem cell-derived cranial and spinal motor neurons reveal proteostatic differences between ALS resistant and sensitive motor neurons. eLife\| PubMed ID: 31157617	2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Human mutation\| PubMed ID: 31206972	2019
Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. Human molecular genetics\| PubMed ID: 31211835	2019
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene. Genetics in medicine : official journal of the American College of Medical Genetics\| PubMed ID: 31263216	2019
Congenital monocular elevation deficiency associated with a novel gene variant. The British journal of ophthalmology\| PubMed ID: 31302631	2019
Phenotype delineation of ZNF462 related syndrome. American journal of medical genetics. Part A\| PubMed ID: 31361404	2019
Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus\| PubMed ID: 31541710	2019
Etv1 Controls the Establishment of Non-overlapping Motor Innervation of Neighboring Facial Muscles during Development. Cell reports\| PubMed ID: 31597102	2019