Elizabeth Engle

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome. medRxiv. 2025 May 07. View Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome. Abstract

Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays. Invest Ophthalmol Vis Sci. 2025 Mar 03; 66(3):62. View Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays. Abstract

A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders. Nat Commun. 2024 Sep 27; 15(1):8268. View A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders. Abstract

Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays. bioRxiv. 2024 Sep 15. View Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays. Abstract

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Genet Med. 2025 Apr; 27(4):101216. View Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Abstract

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 Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness. Abstract

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. medRxiv. 2024 Mar 26. View Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Abstract

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 A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder. Abstract

Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia. JAMA Ophthalmol. 2024 Mar 01; 142(3):243-247. View Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia. Abstract

The influence of orbital architecture on strabismus in craniosynostosis. J AAPOS. 2024 02; 28(1):103812. View The influence of orbital architecture on strabismus in craniosynostosis. Abstract

A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders. medRxiv. 2023 Dec 27. View A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders. Abstract

Inability to move one's face dampens facial expression perception. Cortex. 2023 12; 169:35-49. View Inability to move one's face dampens facial expression perception. Abstract

TUBB3 and KIF21A in neurodevelopment and disease. Front Neurosci. 2023; 17:1226181. View TUBB3 and KIF21A in neurodevelopment and disease. Abstract

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 Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Abstract

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 Dual domain recognition determines SARS-CoV-2 PLpro selectivity for human ISG15 and K48-linked di-ubiquitin. Abstract

Dual domain recognition determines SARS-CoV-2 PLpro selectivity for human ISG15 and K48-linked di-ubiquitin. bioRxiv. 2023 Jan 19. View Dual domain recognition determines SARS-CoV-2 PLpro selectivity for human ISG15 and K48-linked di-ubiquitin. Abstract

TWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse. Dev Biol. 2022 10; 490:126-133. View TWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse. Abstract

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study. Ophthalmology. 2022 06; 129(6):708-718. View Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study. Abstract

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 Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. Abstract

Nuclear IMPDH Filaments in Human Gliomas. J Neuropathol Exp Neurol. 2021 10 26; 80(10):944-954. View Nuclear IMPDH Filaments in Human Gliomas. Abstract

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 TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy. Abstract

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 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. Abstract

A framework for the evaluation of patients with congenital facial weakness. Orphanet J Rare Dis. 2021 04 07; 16(1):158. View A framework for the evaluation of patients with congenital facial weakness. Abstract

Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles. Int J Mol Sci. 2021 Mar 04; 22(5). View Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles. Abstract

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 Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. Abstract

Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies. Muscle Nerve. 2021 04; 63(4):516-524. View Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies. Abstract

KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3. Ophthalmic Genet. 2021 04; 42(2):195-199. View KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3. Abstract

Recurrent Rare Copy Number Variants Increase Risk for Esotropia. Invest Ophthalmol Vis Sci. 2020 08 03; 61(10):22. View Recurrent Rare Copy Number Variants Increase Risk for Esotropia. Abstract

Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry. Brain Commun. 2020; 2(1):fcaa014. View Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry. Abstract

Isolation and Culture of Oculomotor, Trochlear, and Spinal Motor Neurons from Prenatal Islmn:GFP Transgenic Mice. J Vis Exp. 2019 11 12; (153). View Isolation and Culture of Oculomotor, Trochlear, and Spinal Motor Neurons from Prenatal Islmn:GFP Transgenic Mice. Abstract

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 Etv1 Controls the Establishment of Non-overlapping Motor Innervation of Neighboring Facial Muscles during Development. Abstract

Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles. J AAPOS. 2019 10; 23(5):253.e1-253.e6. View Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles. Abstract

Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. Hum Mol Genet. 2019 09 15; 28(18):3113-3125. View Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. Abstract

MAGEL2-related disorders: A study and case series. Clin Genet. 2019 12; 96(6):493-505. View MAGEL2-related disorders: A study and case series. Abstract

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 Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Abstract

Phenotype delineation of ZNF462 related syndrome. Am J Med Genet A. 2019 10; 179(10):2075-2082. View Phenotype delineation of ZNF462 related syndrome. Abstract

Altered White Matter Organization in the TUBB3 E410K Syndrome. Cereb Cortex. 2019 07 22; 29(8):3561-3576. View Altered White Matter Organization in the TUBB3 E410K Syndrome. Abstract

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 Ex Vivo Oculomotor Slice Culture from Embryonic GFP-Expressing Mice for Time-Lapse Imaging of Oculomotor Nerve Outgrowth. Abstract

Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant. Br J Ophthalmol. 2020 04; 104(4):547-550. View Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant. Abstract

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 The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene. Abstract

Stem cell-derived cranial and spinal motor neurons reveal proteostatic differences between ALS resistant and sensitive motor neurons. Elife. 2019 06 03; 8. View Stem cell-derived cranial and spinal motor neurons reveal proteostatic differences between ALS resistant and sensitive motor neurons. Abstract

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 Correction to: 33rd Annual Meeting & Pre-Conference Programs of the Society for Immunotherapy of Cancer (SITC 2018). Abstract

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 MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Abstract

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 Loss of CXCR4/CXCL12 Signaling Causes Oculomotor Nerve Misrouting and Development of Motor Trigeminal to Oculomotor Synkinesis. Abstract

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 Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration. Abstract

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 Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. Abstract

Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies. Am J Hum Genet. 2018 07 05; 103(1):115-124. View Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies. Abstract

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 DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. Abstract

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 Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura. Abstract

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 Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. Abstract

Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance. Hum Mol Genet. 2017 08 01; 26(R1):R37-R44. View Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance. Abstract

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nat Commun. 2017 07 06; 8:16077. View A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Abstract

Ocular Motor Nerve Development in the Presence and Absence of Extraocular Muscle. Invest Ophthalmol Vis Sci. 2017 04 01; 58(4):2388-2396. View Ocular Motor Nerve Development in the Presence and Absence of Extraocular Muscle. Abstract

Mutant a2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome. J Clin Invest. 2017 May 01; 127(5):1664-1682. View Mutant a2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome. Abstract

Biallelic mutations in human DCC cause developmental split-brain syndrome. Nat Genet. 2017 Apr; 49(4):606-612. View Biallelic mutations in human DCC cause developmental split-brain syndrome. Abstract

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 Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. Abstract

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 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. Abstract

Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. Am J Med Genet A. 2016 Feb; 170A(2):297-305. View Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. Abstract

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 Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome. Abstract

Menkes disease in affected females: the clinical disease spectrum. Am J Med Genet A. 2015 Feb; 167A(2):417-20. View Menkes disease in affected females: the clinical disease spectrum. Abstract

Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2. Ophthalmic Genet. 2016 06; 37(2):130-6. View Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2. Abstract

Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling. Neuron. 2014 Apr 16; 82(2):334-49. View Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling. Abstract

Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. Ophthalmology. 2014 Jul; 121(7):1461-8. View Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. Abstract

Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome. Pediatr Neurol. 2014 Apr; 50(4):384-8. View Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome. Abstract

RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia. JAMA Ophthalmol. 2013 Dec; 131(12):1532-40. View RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia. Abstract

Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome. Clin Case Rep. 2013 10 01; 1(1). View Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome. Abstract

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 The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease. Abstract

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 Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation. Abstract

Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. Clin Genet. 2014 Jun; 85(6):562-7. View Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. Abstract

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 A novel syndrome caused by the E410K amino acid substitution in the neuronal ß-tubulin isotype 3. Abstract

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 An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. Abstract

HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. Am J Hum Genet. 2012 Jul 13; 91(1):171-9. View HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. Abstract

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 Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Abstract

Human disorders of axon guidance. Curr Opin Neurobiol. 2012 Oct; 22(5):837-43. View Human disorders of axon guidance. Abstract

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 Ocular manifestations (strabismus: duane syndrome; and retinal nerve fiber hypoplasia) in okihiro syndrome (duane radial ray syndrome). Abstract

Crystalline cataract caused by a heterozygous missense mutation in ?D-crystallin (CRYGD). Mol Vis. 2011; 17:3333-8. View Crystalline cataract caused by a heterozygous missense mutation in ?D-crystallin (CRYGD). Abstract

Wildervanck's syndrome and mirror movements: a congenital disorder of axon migration? J Neurol. 2012 Apr; 259(4):761-3. View Wildervanck's syndrome and mirror movements: a congenital disorder of axon migration? Abstract

Expansion of the CHN1 strabismus phenotype. Invest Ophthalmol Vis Sci. 2011 Aug 11; 52(9):6321-8. View Expansion of the CHN1 strabismus phenotype. Abstract

Two novel CHN1 mutations in 2 families with Duane retraction syndrome. Arch Ophthalmol. 2011 May; 129(5):649-52. View Two novel CHN1 mutations in 2 families with Duane retraction syndrome. Abstract

Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity? Ophthalmology. 2011 Aug; 118(8):1653-60. View Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity? Abstract

Recent progress in understanding congenital cranial dysinnervation disorders. J Neuroophthalmol. 2011 Mar; 31(1):69-77. View Recent progress in understanding congenital cranial dysinnervation disorders. Abstract

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 Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations. Abstract

Allelic diversity in human developmental neurogenetics: insights into biology and disease. Neuron. 2010 Oct 21; 68(2):245-53. View Allelic diversity in human developmental neurogenetics: insights into biology and disease. Abstract

KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). Mol Vis. 2010 Oct 13; 16:2062-70. View KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). Abstract

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 Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Abstract

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 Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis. Abstract

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 Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations. Abstract

Human genetic disorders of axon guidance. Cold Spring Harb Perspect Biol. 2010 Mar; 2(3):a001784. View Human genetic disorders of axon guidance. Abstract

HOXA1 mutations are not a common cause of Möbius syndrome. J AAPOS. 2010 Feb; 14(1):78-80. View HOXA1 mutations are not a common cause of Möbius syndrome. Abstract

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell. 2010 Jan 08; 140(1):74-87. View Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Abstract

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 CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. Abstract

Synergistic divergence: a distinct ocular motility dysinnervation pattern. Invest Ophthalmol Vis Sci. 2009 Nov; 50(11):5213-6. View Synergistic divergence: a distinct ocular motility dysinnervation pattern. Abstract

Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata. Ophthalmic Genet. 2009 Jun; 30(2):91-5. View Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata. Abstract

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 Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome. Abstract

Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science. 2008 Aug 08; 321(5890):839-43. View Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Abstract

The clinical spectrum of homozygous HOXA1 mutations. Am J Med Genet A. 2008 May 15; 146A(10):1235-40. View The clinical spectrum of homozygous HOXA1 mutations. Abstract

Magnetic resonance imaging of the endophenotype of a novel familial Möbius-like syndrome. J AAPOS. 2008 Aug; 12(4):381-9. View Magnetic resonance imaging of the endophenotype of a novel familial Möbius-like syndrome. Abstract

Congenital fibrosis of the extraocular muscles. Semin Ophthalmol. 2008 Jan-Feb; 23(1):3-8. View Congenital fibrosis of the extraocular muscles. Abstract

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 Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome. Abstract

Clinical characterization of the HOXA1 syndrome BSAS variant. Neurology. 2007 Sep 18; 69(12):1245-53. View Clinical characterization of the HOXA1 syndrome BSAS variant. Abstract

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 Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. Abstract

Oculomotility disorders arising from disruptions in brainstem motor neuron development. Arch Neurol. 2007 May; 64(5):633-7. View Oculomotility disorders arising from disruptions in brainstem motor neuron development. Abstract

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 Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy. Abstract

Genetic basis of congenital strabismus. Arch Ophthalmol. 2007 Feb; 125(2):189-95. View Genetic basis of congenital strabismus. Abstract

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 Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus. Abstract

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 Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus. Abstract

Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations. Neurology. 2006 Aug 08; 67(3):519-21. View Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations. Abstract

Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. Brain. 2006 Sep; 129(Pt 9):2363-74. View Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. Abstract

HOXA1 mutations are not a common cause of Duane anomaly. Am J Med Genet A. 2006 Apr 15; 140(8):900-2. View HOXA1 mutations are not a common cause of Duane anomaly. Abstract

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 High-resolution magnetic resonance imaging demonstrates abnormalities of motor nerves and extraocular muscles in patients with neuropathic strabismus. Abstract

The genetic basis of complex strabismus. Pediatr Res. 2006 Mar; 59(3):343-8. View The genetic basis of complex strabismus. Abstract

Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. J Med Genet. 2006 Mar; 43(3):e11. View Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. Abstract

Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nat Genet. 2005 Oct; 37(10):1035-7. View Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Abstract

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 A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. Abstract

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 Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. Abstract

Mutations in KIF21A are responsible for CFEOM1 worldwide. Ophthalmic Genet. 2004 Dec; 25(4):237-9. View Mutations in KIF21A are responsible for CFEOM1 worldwide. Abstract

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 Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Abstract

Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science. 2004 Jun 04; 304(5676):1509-13. View Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Abstract

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 Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Abstract

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 A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). Abstract

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 110th ENMC International Workshop: the congenital cranial dysinnervation disorders (CCDDs). Naarden, The Netherlands, 25-27 October, 2002. Abstract

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 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. Abstract

Congenital fibrosis syndrome associated with central nervous system abnormalities. Graefes Arch Clin Exp Ophthalmol. 2003 Jul; 241(7):546-553. View Congenital fibrosis syndrome associated with central nervous system abnormalities. Abstract

Acute ataxia in childhood. J Child Neurol. 2003 May; 18(5):309-16. View Acute ataxia in childhood. Abstract

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 Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Abstract

Familial unilateral Brown syndrome. Ophthalmic Genet. 2002 Sep; 23(3):175-84. View Familial unilateral Brown syndrome. Abstract

Elevation of one eye during tooth brushing. Am J Ophthalmol. 2002 Sep; 134(3):459-60. View Elevation of one eye during tooth brushing. Abstract

Genes, brainstem development, and eye movements. Neurology. 2002 Aug 13; 59(3):304-5. View Genes, brainstem development, and eye movements. Abstract

The molecular basis of the congenital fibrosis syndromes. Strabismus. 2002 Jun; 10(2):125-8. View The molecular basis of the congenital fibrosis syndromes. Abstract

Applications of molecular genetics to the understanding of congenital ocular motility disorders. Ann N Y Acad Sci. 2002 Apr; 956:55-63. View Applications of molecular genetics to the understanding of congenital ocular motility disorders. Abstract

Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. Hum Genet. 2002 May; 110(5):510-2. View Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. Abstract

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 CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. Abstract

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat Genet. 2001 Nov; 29(3):315-20. View Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Abstract

Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia. Ophthalmology. 2001 Jul; 108(7):1313-22. View Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia. Abstract

Analysis of human sarcospan as a candidate gene for CFEOM1. BMC Genet. 2001; 2:3. View Analysis of human sarcospan as a candidate gene for CFEOM1. Abstract

Congenital fibrosis syndromes. Int Ophthalmol Clin. 2001; 41(4):105-13. View Congenital fibrosis syndromes. Abstract

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 A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12. Abstract

Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles. Am J Ophthalmol. 2000 May; 129(5):658-62. View Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles. Abstract

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 CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Abstract

A genetic approach to congenital extraocular muscle disorders. J Child Neurol. 1999 Jan; 14(1):34-7. View A genetic approach to congenital extraocular muscle disorders. Abstract

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 Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. Abstract

Mutilating hand syndrome in an infant with familial carpal tunnel syndrome. Muscle Nerve. 1998 Jan; 21(1):104-11. View Mutilating hand syndrome in an infant with familial carpal tunnel syndrome. Abstract

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 A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1. Abstract

Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Ann Neurol. 1997 Mar; 41(3):314-25. View Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Abstract

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 Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. Abstract

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 Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Abstract

(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein. Hum Mol Genet. 1994 May; 3(5):841. View (CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein. Abstract

Pre-eruptive varicella cerebellitis confirmed by PCR. Pediatr Neurol. 1993 Nov-Dec; 9(6):491-3. View Pre-eruptive varicella cerebellitis confirmed by PCR. Abstract

Definition, incidence, and clinical description of flare in systemic lupus erythematosus. A prospective cohort study. Arthritis Rheum. 1991 Aug; 34(8):937-44. View Definition, incidence, and clinical description of flare in systemic lupus erythematosus. A prospective cohort study. Abstract

Differential effects of antibiotics inhibiting gyrase. J Bacteriol. 1982 Jan; 149(1):92-8. View Differential effects of antibiotics inhibiting gyrase. Abstract

DNA gyrase on the bacterial chromosome: possibility of two levels of action. Proc Natl Acad Sci U S A. 1980 Nov; 77(11):6879-83. View DNA gyrase on the bacterial chromosome: possibility of two levels of action. Abstract