Caroline Andrews

Publications

• Interleukin-27 As a Novel Therapy for Inflammatory Bowel Disease: A Critical Review of the Literature
  Inflammatory Bowel Diseases. Sep, 2016  |   Pubmed ID: 27243591
• Two Unique TUBB3 Mutations Cause Both CFEOM3 and Malformations of Cortical Development
  American Journal of Medical Genetics. Part A. Feb, 2016  |   Pubmed ID: 26639658
• Generation of a De Novo Transcriptome from Equine Lamellar Tissue
  BMC Genomics. Oct, 2015  |   Pubmed ID: 26432030
• 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
• Diagnostic Distinctions and Genetic Analysis of Patients Diagnosed with Moebius Syndrome
  Ophthalmology. Jul, 2014  |   Pubmed ID: 24612975
• Pontine Malformation, Undecussated Pyramidal Tracts, and Regional Polymicrogyria: a New Syndrome
  Pediatric Neurology. Apr, 2014  |   Pubmed ID: 24507697
• Pathology in Practice. Compound Odontoma in a Horse
  Journal of the American Veterinary Medical Association. Feb, 2014  |   Pubmed ID: 24479454
• 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
• Complex Cytogenetic Rearrangements at the DURS1 Locus in Syndromic Duane Retraction Syndrome
  Clinical Case Reports. Oct, 2013  |   Pubmed ID: 24416505
• 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
• The Response to Rapid Infusion of Fentanyl in the Human Brain Measured Using Pulsed Arterial Spin Labelling
  Magma (New York, N.Y.). Apr, 2012  |   Pubmed ID: 22113518
• Crystalline Cataract Caused by a Heterozygous Missense Mutation in γD-crystallin (CRYGD)
  Molecular Vision. 2011  |   Pubmed ID: 22219628
• Expansion of the CHN1 Strabismus Phenotype
  Investigative Ophthalmology & Visual Science. Aug, 2011  |   Pubmed ID: 21715346
• Two Novel CHN1 Mutations in 2 Families with Duane Retraction Syndrome
  Archives of Ophthalmology (Chicago, Ill. : 1960). May, 2011  |   Pubmed ID: 21555619
• Strukturelle Abstufung Der Foveahypoplasie Mit Spectral-Domain Optische Kohärenztomografie Eine Vorhersage Der Sehschärfe?
  Ophthalmology. Aug, 2011  |   Pubmed ID: 21529956
• KIF21A Mutations in Two Chinese Families with Congenital Fibrosis of the Extraocular Muscles (CFEOM)
  Molecular Vision. Oct, 2010  |   Pubmed ID: 21042561
• Which Patients with Dystonia Benefit from Deep Brain Stimulation? A Metaregression of Individual Patient Outcomes
  Journal of Neurology, Neurosurgery, and Psychiatry. Dec, 2010  |   Pubmed ID: 20841370
• HOXA1 Mutations Are Not a Common Cause of Möbius Syndrome
  Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus. Feb, 2010  |   Pubmed ID: 20227628
• Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance
  Cell. Jan, 2010  |   Pubmed ID: 20074521
• CHN1 Mutations Are Not a Common Cause of Sporadic Duane's Retraction Syndrome
  American Journal of Medical Genetics. Part A. Jan, 2010  |   Pubmed ID: 20034095
• Human CHN1 Mutations Hyperactivate Alpha2-chimaerin and Cause Duane's Retraction Syndrome
  Science (New York, N.Y.). Aug, 2008  |   Pubmed ID: 18653847
• Magnetic Resonance Imaging of the Endophenotype of a Novel Familial Möbius-like Syndrome
  Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus. Aug, 2008  |   Pubmed ID: 18455936
• Three Novel Mutations in KIF21A Highlight the Importance of the Third Coiled-coil Stalk Domain in the Etiology of CFEOM1
  BMC Genetics. May, 2007  |   Pubmed ID: 17511870
• 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
• HOXA1 Mutations Are Not a Common Cause of Duane Anomaly
  American Journal of Medical Genetics. Part A. Apr, 2006  |   Pubmed ID: 16528738
• A Novel KIF21A Mutation in a Patient with Congenital Fibrosis of the Extraocular Muscles and Marcus Gunn Jaw-winking Phenomenon
  Archives of Ophthalmology (Chicago, Ill. : 1960). Sep, 2005  |   Pubmed ID: 16157808
• Homozygous HOXA1 Mutations Disrupt Human Brainstem, Inner Ear, Cardiovascular and Cognitive Development
  Nature Genetics. Oct, 2005  |   Pubmed ID: 16155570
• Autosomal Dominant Hereditary Hemochromatosis Associated with a Novel Ferroportin Mutation and Unique Clinical Features
  Blood Cells, Molecules & Diseases. Mar-Apr, 2005  |   Pubmed ID: 15727899
• Identification of KIF21A Mutations As a Rare Cause of Congenital Fibrosis of the Extraocular Muscles Type 3 (CFEOM3)
  Investigative Ophthalmology & Visual Science. Jul, 2004  |   Pubmed ID: 15223798
• Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis
  Science (New York, N.Y.). Jun, 2004  |   Pubmed ID: 15105459
• Heterozygous Mutations of the Kinesin KIF21A in Congenital Fibrosis of the Extraocular Muscles Type 1 (CFEOM1)
  Nature Genetics. Dec, 2003  |   Pubmed ID: 14595441
• Duane Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in SALL4, a New Member of the SAL Family
  American Journal of Human Genetics. Nov, 2002  |   Pubmed ID: 12395297
• Evidence for a Dual Mechanism for IL-10 Suppression of TNF-alpha Production That Does Not Involve Inhibition of P38 Mitogen-activated Protein Kinase or NF-kappa B in Primary Human Macrophages
  Journal of Immunology (Baltimore, Md. : 1950). May, 2002  |   Pubmed ID: 11994432