Information

Related Research Units

Intellectual and Developmental Disabilities Research Center Research
The Manton Center for Orphan Disease Research
Engle Laboratory Research
F.M. Kirby Neurobiology Center

Research Overview

My lab investigates aberrant cranial motor neuron development by identifying human congenital disorders of eye and face movement, defining their genetic etiologies, and uncovering their molecular pathways and disease mechanisms. Cranial motor neurons provide a unique and powerful system to study neuronal connectivity because of the small number of motor neurons within distinct nuclei and the straightforward tractable trajectories of their axons that can be visualized in three dimensions. Moreover, errors in their development result in visible, reproducible human phenotypes that consistently translate to mouse and zebrafish models.

Our research focuses on genes essential to the development of the cranial nerves, a diverse group of sensory and motor nerves originating in the brain that control our ability to see, hear, taste, smell and carry out a number of other essential functions. Mutations in these genes can cause complex eye-movement disorders, facial weakness, deafness, loss of smell (anosmia), and difficulties with swallowing and respiration. Some individuals with these symptoms may also have other motor, sensory, intellectual, behavioral and social disabilities. My lab has defined the clinical manifestations and identified the genetic causes of a series of such disorders, now referred to as the congenital cranial dysinnervation disorders (CCDDs), including: congenital fibrosis of the extraocular muscles (CFEOM) types 1-3, Duane syndrome, Duane radial ray syndrome, horizontal gaze palsy, and atypical forms of Moebius syndrome. These disorders can result from mutations in genes critical to motor neuron development or that alter the ability of the axon to grow normally, resulting in stalled growth or inappropriate guidance. We have also identified several disorders that selectively impair the development of extraocular or facial muscle.

Major projects in the lab include (1) interpretation of >900 whole genome sequences from families with congenital disorders of eye and face movement, focusing on noncoding and structural variation as well as coding variants; (2) functional and mechanistic studies of genetic variants and their normal and abnormal proteins using mouse and zebrafish modeling, stem cell differentiation to the cell types of interest, and in vitro approaches, (3) studies of embryonic wildtype and mutant cranial motor neurons through single cell RNA sequencing, in situ studies, and mouse and zebrafish gene manipulations. These studies are defining: how these motor neurons acquire distinct identities, form cranial nuclei and subnuclei, and target specific cranial musculature; how these processes are disrupted in human development resulting in birth defects; and why these motor neurons are selectively vulnerable to or spared in specific neurodevelopmental and neurodegenerative disorders.

Research Background

Elizabeth Engle is a Professor of Neurology and Ophthalmology at Harvard Medical School, an Investigator of the Howard Hughes Medical Institute, and an Associate Member of the Broad Institute of MIT and Harvard. At Boston Children's Hospital, she is a member of the Departments of Neurology, Ophthalmology and Medicine (Genetics), a member of the F.M. Kirby Neurobiology Center and the Program in Genomics, and a senior investigator for The Manton Center for Orphan Disease Research. Dr. Engle received her B.A from Middlebury College and her M.D. from Johns Hopkins University School of Medicine. She trained in pediatrics at Johns Hopkins, in neuropathology at Massachusetts General Hospital, and in adult and child neurology in the Longwood Neurology Training Program and at Boston Children's Hospital. Following her residencies, she was a research fellow with Louis Kunkel, Ph.D., and later Alan Beggs, Ph.D., in the Division of Genetics at Children's prior to establishing her own research lab in 1997. Her work has defined the human congenital cranial dysinnervation disorders and has been recognized by high-profile publications and by receipt of multiple honors, including the E. Mead Johnson Award for Research in Pediatrics from the Society for Pediatric Research, the Sidney Carter Award in Child Neurology from the American Academy of Neurology, and a Research Award for Vision from the Alcon Institute. In addition to her research, Dr. Engle continues to care for patients, primarily consulting for children and adults with rare eye and facial movement disorders and other cranial nerve disorders. She teaches in both the clinical and laboratory settings, and has served on multiple committees that set the direction for neuroscience and ophthalmology research locally and nationally.

 

Education

Medical School

Johns Hopkins Hospital
1985 Baltimore MD

Residency

Combined Residency Program, Pediatrics Johns Hopkins Hospital
1988 Baltimore MD

Residency

Neuropathology Massachusetts General Hospital
1989 Boston MA

Residency

Combined Harvard Neurology Training Program; Neurology/Child Neurology Boston Children's Hospital
1992 Boston MA

Fellowship

Genetics Research Boston Children's Hospital
1996 Boston MA

Publications

  1. A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders. Nat Commun. 2024 Sep 27; 15(1):8268. View Abstract
  2. Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays. bioRxiv. 2024 Sep 15. View Abstract
  3. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Genet Med. 2024 Jul 17; 101216. View Abstract
  4. Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness. Int J Environ Res Public Health. 2024 May 13; 21(5). View Abstract
  5. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. medRxiv. 2024 Mar 26. View Abstract
  6. A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder. Genet Med. 2024 06; 26(6):101119. View Abstract
  7. Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia. JAMA Ophthalmol. 2024 Mar 01; 142(3):243-247. View Abstract
  8. The influence of orbital architecture on strabismus in craniosynostosis. J AAPOS. 2024 02; 28(1):103812. View Abstract
  9. A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders. medRxiv. 2023 Dec 27. View Abstract
  10. Inability to move one's face dampens facial expression perception. Cortex. 2023 12; 169:35-49. View Abstract
  11. TUBB3 and KIF21A in neurodevelopment and disease. Front Neurosci. 2023; 17:1226181. View Abstract
  12. Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Nat Genet. 2023 07; 55(7):1149-1163. View Abstract
  13. Dual domain recognition determines SARS-CoV-2 PLpro selectivity for human ISG15 and K48-linked di-ubiquitin. Nat Commun. 2023 04 25; 14(1):2366. View Abstract
  14. Dual domain recognition determines SARS-CoV-2 PLpro selectivity for human ISG15 and K48-linked di-ubiquitin. bioRxiv. 2023 Jan 19. View Abstract
  15. TWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse. Dev Biol. 2022 10; 490:126-133. View Abstract
  16. Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study. Ophthalmology. 2022 06; 129(6):708-718. View Abstract
  17. Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. Hum Mutat. 2022 04; 43(4):487-498. View Abstract
  18. Nuclear IMPDH Filaments in Human Gliomas. J Neuropathol Exp Neurol. 2021 10 26; 80(10):944-954. View Abstract
  19. TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy. Hum Genet. 2021 Dec; 140(12):1709-1731. View Abstract
  20. A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome. Ophthalmic Genet. 2021 10; 42(5):612-614. View Abstract
  21. A framework for the evaluation of patients with congenital facial weakness. Orphanet J Rare Dis. 2021 04 07; 16(1):158. View Abstract
  22. Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles. Int J Mol Sci. 2021 Mar 04; 22(5). View Abstract
  23. Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. Eur J Hum Genet. 2021 05; 29(5):816-826. View Abstract
  24. Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies. Muscle Nerve. 2021 04; 63(4):516-524. View Abstract
  25. KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3. Ophthalmic Genet. 2021 04; 42(2):195-199. View Abstract
  26. Recurrent Rare Copy Number Variants Increase Risk for Esotropia. Invest Ophthalmol Vis Sci. 2020 08 03; 61(10):22. View Abstract
  27. Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry. Brain Commun. 2020; 2(1):fcaa014. View Abstract
  28. Isolation and Culture of Oculomotor, Trochlear, and Spinal Motor Neurons from Prenatal Islmn:GFP Transgenic Mice. J Vis Exp. 2019 11 12; (153). View Abstract
  29. Etv1 Controls the Establishment of Non-overlapping Motor Innervation of Neighboring Facial Muscles during Development. Cell Rep. 2019 10 08; 29(2):437-452.e4. View Abstract
  30. Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles. J AAPOS. 2019 10; 23(5):253.e1-253.e6. View Abstract
  31. Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. Hum Mol Genet. 2019 09 15; 28(18):3113-3125. View Abstract
  32. MAGEL2-related disorders: A study and case series. Clin Genet. 2019 12; 96(6):493-505. View Abstract
  33. Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Hum Mutat. 2019 12; 40(12):2270-2285. View Abstract
  34. Phenotype delineation of ZNF462 related syndrome. Am J Med Genet A. 2019 10; 179(10):2075-2082. View Abstract
  35. Altered White Matter Organization in the TUBB3 E410K Syndrome. Cereb Cortex. 2019 07 22; 29(8):3561-3576. View Abstract
  36. Ex Vivo Oculomotor Slice Culture from Embryonic GFP-Expressing Mice for Time-Lapse Imaging of Oculomotor Nerve Outgrowth. J Vis Exp. 2019 07 16; (149). View Abstract
  37. Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant. Br J Ophthalmol. 2020 04; 104(4):547-550. View Abstract
  38. The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene. Genet Med. 2019 12; 21(12):2734-2743. View Abstract
  39. Stem cell-derived cranial and spinal motor neurons reveal proteostatic differences between ALS resistant and sensitive motor neurons. Elife. 2019 06 03; 8. View Abstract
  40. Correction to: 33rd Annual Meeting & Pre-Conference Programs of the Society for Immunotherapy of Cancer (SITC 2018). J Immunother Cancer. 2019 Feb 13; 7(1):46. View Abstract
  41. MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Am J Hum Genet. 2018 12 06; 103(6):1009-1021. View Abstract
  42. Loss of CXCR4/CXCL12 Signaling Causes Oculomotor Nerve Misrouting and Development of Motor Trigeminal to Oculomotor Synkinesis. Invest Ophthalmol Vis Sci. 2018 10 01; 59(12):5201-5209. View Abstract
  43. Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration. Cell Rep. 2018 08 14; 24(7):1865-1879.e9. View Abstract
  44. Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. Invest Ophthalmol Vis Sci. 2018 08 01; 59(10):4054-4064. View Abstract
  45. Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies. Am J Hum Genet. 2018 07 05; 103(1):115-124. View Abstract
  46. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. Hum Mutat. 2018 01; 39(1):23-39. View Abstract
  47. Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura. Dev Cell. 2017 09 11; 42(5):445-461.e5. View Abstract
  48. Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. Am J Med Genet A. 2017 Oct; 173(10):2763-2771. View Abstract
  49. Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance. Hum Mol Genet. 2017 08 01; 26(R1):R37-R44. View Abstract
  50. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nat Commun. 2017 07 06; 8:16077. View Abstract
  51. Ocular Motor Nerve Development in the Presence and Absence of Extraocular Muscle. Invest Ophthalmol Vis Sci. 2017 04 01; 58(4):2388-2396. View Abstract
  52. Mutant a2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome. J Clin Invest. 2017 May 01; 127(5):1664-1682. View Abstract
  53. Biallelic mutations in human DCC cause developmental split-brain syndrome. Nat Genet. 2017 Apr; 49(4):606-612. View Abstract
  54. Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. Am J Hum Genet. 2016 06 02; 98(6):1220-1227. View Abstract
  55. 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. Am J Med Genet A. 2016 May; 170A(5):1165-73. View Abstract
  56. Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. Am J Med Genet A. 2016 Feb; 170A(2):297-305. View Abstract
  57. Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome. J Clin Endocrinol Metab. 2015 Mar; 100(3):E473-7. View Abstract
  58. Menkes disease in affected females: the clinical disease spectrum. Am J Med Genet A. 2015 Feb; 167A(2):417-20. View Abstract
  59. Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2. Ophthalmic Genet. 2016 06; 37(2):130-6. View Abstract
  60. Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling. Neuron. 2014 Apr 16; 82(2):334-49. View Abstract
  61. Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. Ophthalmology. 2014 Jul; 121(7):1461-8. View Abstract
  62. Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome. Pediatr Neurol. 2014 Apr; 50(4):384-8. View Abstract
  63. RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia. JAMA Ophthalmol. 2013 Dec; 131(12):1532-40. View Abstract
  64. Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome. Clin Case Rep. 2013 10 01; 1(1). View Abstract
  65. The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease. Semin Ophthalmol. 2013 Sep-Nov; 28(5-6):427-37. View Abstract
  66. Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation. Eur J Hum Genet. 2014 Mar; 22(3):344-9. View Abstract
  67. Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. Clin Genet. 2014 Jun; 85(6):562-7. View Abstract
  68. A novel syndrome caused by the E410K amino acid substitution in the neuronal ß-tubulin isotype 3. Brain. 2013 Feb; 136(Pt 2):522-35. View Abstract
  69. An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. Hum Mol Genet. 2012 Dec 15; 21(26):5484-99. View Abstract
  70. HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. Am J Hum Genet. 2012 Jul 13; 91(1):171-9. View Abstract
  71. Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Gene Expr Patterns. 2012 May-Jun; 12(5-6):180-8. View Abstract
  72. Human disorders of axon guidance. Curr Opin Neurobiol. 2012 Oct; 22(5):837-43. View Abstract
  73. Ocular manifestations (strabismus: duane syndrome; and retinal nerve fiber hypoplasia) in okihiro syndrome (duane radial ray syndrome). Binocul Vis Strabolog Q Simms Romano. 2012; 27(4):235-42. View Abstract
  74. Crystalline cataract caused by a heterozygous missense mutation in ?D-crystallin (CRYGD). Mol Vis. 2011; 17:3333-8. View Abstract
  75. Wildervanck's syndrome and mirror movements: a congenital disorder of axon migration? J Neurol. 2012 Apr; 259(4):761-3. View Abstract
  76. Expansion of the CHN1 strabismus phenotype. Invest Ophthalmol Vis Sci. 2011 Aug 11; 52(9):6321-8. View Abstract
  77. Two novel CHN1 mutations in 2 families with Duane retraction syndrome. Arch Ophthalmol. 2011 May; 129(5):649-52. View Abstract
  78. Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity? Ophthalmology. 2011 Aug; 118(8):1653-60. View Abstract
  79. Recent progress in understanding congenital cranial dysinnervation disorders. J Neuroophthalmol. 2011 Mar; 31(1):69-77. View Abstract
  80. Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations. Curr Opin Genet Dev. 2011 Jun; 21(3):286-94. View Abstract
  81. Allelic diversity in human developmental neurogenetics: insights into biology and disease. Neuron. 2010 Oct 21; 68(2):245-53. View Abstract
  82. KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). Mol Vis. 2010 Oct 13; 16:2062-70. View Abstract
  83. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 05; 153B(4):937-47. View Abstract
  84. Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis. Biosci Rep. 2010 Apr 15; 30(5):319-30. View Abstract
  85. Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations. Invest Ophthalmol Vis Sci. 2010 Sep; 51(9):4600-11. View Abstract
  86. Human genetic disorders of axon guidance. Cold Spring Harb Perspect Biol. 2010 Mar; 2(3):a001784. View Abstract
  87. HOXA1 mutations are not a common cause of Möbius syndrome. J AAPOS. 2010 Feb; 14(1):78-80. View Abstract
  88. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell. 2010 Jan 08; 140(1):74-87. View Abstract
  89. CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. Am J Med Genet A. 2010 Jan; 152A(1):215-7. View Abstract
  90. Synergistic divergence: a distinct ocular motility dysinnervation pattern. Invest Ophthalmol Vis Sci. 2009 Nov; 50(11):5213-6. View Abstract
  91. Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata. Ophthalmic Genet. 2009 Jun; 30(2):91-5. View Abstract
  92. Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome. J AAPOS. 2009 Jun; 13(3):245-8. View Abstract
  93. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science. 2008 Aug 08; 321(5890):839-43. View Abstract
  94. The clinical spectrum of homozygous HOXA1 mutations. Am J Med Genet A. 2008 May 15; 146A(10):1235-40. View Abstract
  95. Magnetic resonance imaging of the endophenotype of a novel familial Möbius-like syndrome. J AAPOS. 2008 Aug; 12(4):381-9. View Abstract
  96. Congenital fibrosis of the extraocular muscles. Semin Ophthalmol. 2008 Jan-Feb; 23(1):3-8. View Abstract
  97. Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome. Invest Ophthalmol Vis Sci. 2007 Dec; 48(12):5505-11. View Abstract
  98. Clinical characterization of the HOXA1 syndrome BSAS variant. Neurology. 2007 Sep 18; 69(12):1245-53. View Abstract
  99. Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. BMC Genet. 2007 May 18; 8:26. View Abstract
  100. Oculomotility disorders arising from disruptions in brainstem motor neuron development. Arch Neurol. 2007 May; 64(5):633-7. View Abstract
  101. Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy. Invest Ophthalmol Vis Sci. 2007 Apr; 48(4):1601-6. View Abstract
  102. Genetic basis of congenital strabismus. Arch Ophthalmol. 2007 Feb; 125(2):189-95. View Abstract
  103. Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus. Invest Ophthalmol Vis Sci. 2007 Jan; 48(1):189-93. View Abstract
  104. Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus. Invest Ophthalmol Vis Sci. 2007 Jan; 48(1):194-202. View Abstract
  105. Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations. Neurology. 2006 Aug 08; 67(3):519-21. View Abstract
  106. Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. Brain. 2006 Sep; 129(Pt 9):2363-74. View Abstract
  107. HOXA1 mutations are not a common cause of Duane anomaly. Am J Med Genet A. 2006 Apr 15; 140(8):900-2. View Abstract
  108. High-resolution magnetic resonance imaging demonstrates abnormalities of motor nerves and extraocular muscles in patients with neuropathic strabismus. J AAPOS. 2006 Apr; 10(2):135-42. View Abstract
  109. The genetic basis of complex strabismus. Pediatr Res. 2006 Mar; 59(3):343-8. View Abstract
  110. Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. J Med Genet. 2006 Mar; 43(3):e11. View Abstract
  111. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nat Genet. 2005 Oct; 37(10):1035-7. View Abstract
  112. A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. Arch Ophthalmol. 2005 Sep; 123(9):1254-9. View Abstract
  113. Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. Invest Ophthalmol Vis Sci. 2005 Feb; 46(2):530-9. View Abstract
  114. Mutations in KIF21A are responsible for CFEOM1 worldwide. Ophthalmic Genet. 2004 Dec; 25(4):237-9. View Abstract
  115. Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Invest Ophthalmol Vis Sci. 2004 Jul; 45(7):2218-23. View Abstract
  116. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science. 2004 Jun 04; 304(5676):1509-13. View Abstract
  117. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet. 2003 Dec; 35(4):318-21. View Abstract
  118. A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). Am J Ophthalmol. 2003 Nov; 136(5):861-5. View Abstract
  119. 110th ENMC International Workshop: the congenital cranial dysinnervation disorders (CCDDs). Naarden, The Netherlands, 25-27 October, 2002. Neuromuscul Disord. 2003 Sep; 13(7-8):573-8. View Abstract
  120. A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region. Neuromuscul Disord. 2003 Aug; 13(6):472-8. View Abstract
  121. Congenital fibrosis syndrome associated with central nervous system abnormalities. Graefes Arch Clin Exp Ophthalmol. 2003 Jul; 241(7):546-553. View Abstract
  122. Acute ataxia in childhood. J Child Neurol. 2003 May; 18(5):309-16. View Abstract
  123. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Am J Hum Genet. 2002 Nov; 71(5):1195-9. View Abstract
  124. Familial unilateral Brown syndrome. Ophthalmic Genet. 2002 Sep; 23(3):175-84. View Abstract
  125. Elevation of one eye during tooth brushing. Am J Ophthalmol. 2002 Sep; 134(3):459-60. View Abstract
  126. Genes, brainstem development, and eye movements. Neurology. 2002 Aug 13; 59(3):304-5. View Abstract
  127. The molecular basis of the congenital fibrosis syndromes. Strabismus. 2002 Jun; 10(2):125-8. View Abstract
  128. Applications of molecular genetics to the understanding of congenital ocular motility disorders. Ann N Y Acad Sci. 2002 Apr; 956:55-63. View Abstract
  129. Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. Hum Genet. 2002 May; 110(5):510-2. View Abstract
  130. CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. BMC Genet. 2002; 3:3. View Abstract
  131. Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat Genet. 2001 Nov; 29(3):315-20. View Abstract
  132. Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia. Ophthalmology. 2001 Jul; 108(7):1313-22. View Abstract
  133. Analysis of human sarcospan as a candidate gene for CFEOM1. BMC Genet. 2001; 2:3. View Abstract
  134. Congenital fibrosis syndromes. Int Ophthalmol Clin. 2001; 41(4):105-13. View Abstract
  135. A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12. Arch Ophthalmol. 2000 Aug; 118(8):1090-7. View Abstract
  136. Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles. Am J Ophthalmol. 2000 May; 129(5):658-62. View Abstract
  137. CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Invest Ophthalmol Vis Sci. 1999 Jul; 40(8):1687-94. View Abstract
  138. A genetic approach to congenital extraocular muscle disorders. J Child Neurol. 1999 Jan; 14(1):34-7. View Abstract
  139. Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. Am J Hum Genet. 1998 Aug; 63(2):517-25. View Abstract
  140. Mutilating hand syndrome in an infant with familial carpal tunnel syndrome. Muscle Nerve. 1998 Jan; 21(1):104-11. View Abstract
  141. A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1. Am J Hum Genet. 1997 May; 60(5):1150-7. View Abstract
  142. Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Ann Neurol. 1997 Mar; 41(3):314-25. View Abstract
  143. Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. Am J Hum Genet. 1995 Nov; 57(5):1086-94. View Abstract
  144. Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nat Genet. 1994 May; 7(1):69-73. View Abstract
  145. (CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein. Hum Mol Genet. 1994 May; 3(5):841. View Abstract
  146. Pre-eruptive varicella cerebellitis confirmed by PCR. Pediatr Neurol. 1993 Nov-Dec; 9(6):491-3. View Abstract
  147. Definition, incidence, and clinical description of flare in systemic lupus erythematosus. A prospective cohort study. Arthritis Rheum. 1991 Aug; 34(8):937-44. View Abstract
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