Elizabeth C. Engle Department of Ophthalmology Boston Children's Hospital Biography Publications Institution JoVE Articles Elizabeth C. Engle has not added a biography. If you are Elizabeth C. Engle and would like to personalize this page please email our Author Liaison for assistance. Publications Congenital Monocular Elevation Deficiency Associated with a Novel Gene Variant The British Journal of Ophthalmology. Jul, 2019 | Pubmed ID: 31302631 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. Jul, 2019 | Pubmed ID: 31263216 Decreased ACKR3 (CXCR7) Function Causes Oculomotor Synkinesis in Mice and Humans Human Molecular Genetics. Jun, 2019 | Pubmed ID: 31211835 Deleterious De Novo Variants of X-linked ZC4H2 in Females Cause a Variable Phenotype with Neurogenic Arthrogryposis Multiplex Congenita Human Mutation. Jun, 2019 | Pubmed ID: 31206972 Stem Cell-derived Cranial and Spinal Motor Neurons Reveal Proteostatic Differences Between ALS Resistant and Sensitive Motor Neurons ELife. Jun, 2019 | Pubmed ID: 31157617 Loss of CXCR4/CXCL12 Signaling Causes Oculomotor Nerve Misrouting and Development of Motor Trigeminal to Oculomotor Synkinesis Investigative Ophthalmology & Visual Science. 10, 2018 | Pubmed ID: 30372748 Altered White Matter Organization in the TUBB3 E410K Syndrome Cerebral Cortex (New York, N.Y. : 1991). Oct, 2018 | Pubmed ID: 30272120 Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration Cell Reports. Aug, 2018 | Pubmed ID: 30110642 Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect Investigative Ophthalmology & Visual Science. 08, 2018 | Pubmed ID: 30098192 Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies American Journal of Human Genetics. 07, 2018 | Pubmed ID: 29887215 DCC Mutation Update: Congenital Mirror Movements, Isolated Agenesis of the Corpus Callosum, and Developmental Split Brain Syndrome Human Mutation. Oct, 2017 | Pubmed ID: 29068161 Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura Developmental Cell. 09, 2017 | Pubmed ID: 28844842 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. Oct, 2017 | Pubmed ID: 28777491 A Defect in Myoblast Fusion Underlies Carey-Fineman-Ziter Syndrome Nature Communications. 07, 2017 | Pubmed ID: 28681861 Ocular Congenital Cranial Dysinnervation Disorders (CCDDs): Insights into Axon Growth and Guidance Human Molecular Genetics. 08, 2017 | Pubmed ID: 28459979 Ocular Motor Nerve Development in the Presence and Absence of Extraocular Muscle Investigative Ophthalmology & Visual Science. 04, 2017 | Pubmed ID: 28437527 Mutant α2-chimaerin Signals Via Bidirectional Ephrin Pathways in Duane Retraction Syndrome The Journal of Clinical Investigation. May, 2017 | Pubmed ID: 28346224 Biallelic Mutations in Human DCC Cause Developmental Split-brain Syndrome Nature Genetics. Apr, 2017 | Pubmed ID: 28250456 Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects American Journal of Human Genetics. Jun, 2016 | Pubmed ID: 27181683 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 American Journal of Medical Genetics. Part A. May, 2016 | Pubmed ID: 26887912 Two Unique TUBB3 Mutations Cause Both CFEOM3 and Malformations of Cortical Development American Journal of Medical Genetics. Part A. Feb, 2016 | Pubmed ID: 26639658 Expanding the Phenotypic Spectrum and Variability of Endocrine Abnormalities Associated with TUBB3 E410K Syndrome The Journal of Clinical Endocrinology and Metabolism. Mar, 2015 | Pubmed ID: 25559402 Human CFEOM1 Mutations Attenuate KIF21A Autoinhibition and Cause Oculomotor Axon Stalling Neuron. Apr, 2014 | Pubmed ID: 24656932 Diagnostic Distinctions and Genetic Analysis of Patients Diagnosed with Moebius Syndrome Ophthalmology. Jul, 2014 | Pubmed ID: 24612975 Autosomal-dominant Nystagmus, Foveal Hypoplasia and Presenile Cataract Associated with a Novel PAX6 Mutation European Journal of Human Genetics : EJHG. Mar, 2014 | Pubmed ID: 23942204 Expanding the Phenotypic Spectrum of ECEL1-related Congenital Contracture Syndromes Clinical Genetics. Jun, 2014 | Pubmed ID: 23808592 Complex Cytogenetic Rearrangements at the DURS1 Locus in Syndromic Duane Retraction Syndrome Clinical Case Reports. Oct, 2013 | Pubmed ID: 24416505 The Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of Disease Seminars in Ophthalmology. Sep-Nov, 2013 | Pubmed ID: 24138051 RYR1 Mutations As a Cause of Ophthalmoplegia, Facial Weakness, and Malignant Hyperthermia JAMA Ophthalmology. Dec, 2013 | Pubmed ID: 24091937 A Novel Syndrome Caused by the E410K Amino Acid Substitution in the Neuronal β-tubulin Isotype 3 Brain : a Journal of Neurology. Feb, 2013 | Pubmed ID: 23378218 An Inherited TUBB2B Mutation Alters a Kinesin-binding Site and Causes Polymicrogyria, CFEOM and Axon Dysinnervation Human Molecular Genetics. Dec, 2012 | Pubmed ID: 23001566 HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1-/- Mice American Journal of Human Genetics. Jul, 2012 | Pubmed ID: 22770981 Human Genetic Disorders of Axon Guidance Cold Spring Harbor Perspectives in Biology. Mar, 2010 | Pubmed ID: 20300212 The Clinical Spectrum of Homozygous HOXA1 Mutations American Journal of Medical Genetics. Part A. May, 2008 | Pubmed ID: 18412118 Oculomotility Disorders Arising from Disruptions in Brainstem Motor Neuron Development Archives of Neurology. May, 2007 | Pubmed ID: 17502461 Genetic Basis of Congenital Strabismus Archives of Ophthalmology (Chicago, Ill. : 1960). Feb, 2007 | Pubmed ID: 17296894 Two Pedigrees Segregating Duane's Retraction Syndrome As a Dominant Trait Map to the DURS2 Genetic Locus Investigative Ophthalmology & Visual Science. Jan, 2007 | Pubmed ID: 17197532 The Genetic Basis of Complex Strabismus Pediatric Research. Mar, 2006 | Pubmed ID: 16492969 पूर्व Vivo Oculomotor स्लाइस संस्कृति भ्रूण GFP से-समय के लिए चूहे को व्यक्त करने के लिए Oculomotor तंत्रिका आउटग्रोथ के समय-लैप इमेजिंग Mary C. Whitman1,2,3, Jessica L. Bell1,3, Elaine H. Nguyen1,3, Elizabeth C. Engle1,2,3,4,5,6 1Department of Ophthalmology, Boston Children's Hospital, 2Department of Ophthalmology, Harvard Medical School, 3F.M. Kirby Neurobiology Center, Boston Children's Hospital, 4Department of Neurology, Boston Children's Hospital, 5Department of Neurology, Harvard Medical School, 6Howard Hughes Medical Institute JoVE 59911 Neuroscience
पूर्व Vivo Oculomotor स्लाइस संस्कृति भ्रूण GFP से-समय के लिए चूहे को व्यक्त करने के लिए Oculomotor तंत्रिका आउटग्रोथ के समय-लैप इमेजिंग Mary C. Whitman1,2,3, Jessica L. Bell1,3, Elaine H. Nguyen1,3, Elizabeth C. Engle1,2,3,4,5,6 1Department of Ophthalmology, Boston Children's Hospital, 2Department of Ophthalmology, Harvard Medical School, 3F.M. Kirby Neurobiology Center, Boston Children's Hospital, 4Department of Neurology, Boston Children's Hospital, 5Department of Neurology, Harvard Medical School, 6Howard Hughes Medical Institute JoVE 59911 Neuroscience
