Mary Whitman

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

Strabismus in Genetic Syndromes: A Review. Clin Exp Ophthalmol. 2025 Apr; 53(3):302-330. View Strabismus in Genetic Syndromes: A Review. Abstract

Genome-Wide and Rare Variant Association Studies of Amblyopia in the All of Us Research Program. Ophthalmology. 2025 Jan 20. View Genome-Wide and Rare Variant Association Studies of Amblyopia in the All of Us Research Program. Abstract

Chromosome 4 Duplication Associated with Strabismus Leads to Gene Expression Changes in iPSC-Derived Cortical Neurons. Genes (Basel). 2025 Jan 12; 16(1). View Chromosome 4 Duplication Associated with Strabismus Leads to Gene Expression Changes in iPSC-Derived Cortical Neurons. Abstract

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. 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

Congenital cranial dysinnervation disorder with homozygous KIF26A variant. J AAPOS. 2024 Aug; 28(4):103951. View Congenital cranial dysinnervation disorder with homozygous KIF26A variant. Abstract

Neuromuscular Junction Development Differs Between Extraocular and Skeletal Muscles and Between Different Extraocular Muscles. Invest Ophthalmol Vis Sci. 2024 May 01; 65(5):28. View Neuromuscular Junction Development Differs Between Extraocular and Skeletal Muscles and Between Different Extraocular Muscles. Abstract

Mental Health Conditions Associated With Strabismus in a Diverse Cohort of US Adults. JAMA Ophthalmol. 2024 May 01; 142(5):472-475. View Mental Health Conditions Associated With Strabismus in a Diverse Cohort of US Adults. 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

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

Genetics of strabismus. Front Ophthalmol (Lausanne). 2023; 3. View Genetics of strabismus. 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

Impaired Extraocular Muscle Innervation Is Present Before Eye Opening in a Mouse Model of Infantile Nystagmus Syndrome. Invest Ophthalmol Vis Sci. 2022 09 01; 63(10):4. View Impaired Extraocular Muscle Innervation Is Present Before Eye Opening in a Mouse Model of Infantile Nystagmus Syndrome. 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

First Visit Characteristics Associated with Future Surgery in Intermittent Exotropia. J Binocul Vis Ocul Motil. 2022 Jan-Mar; 72(1):22-28. View First Visit Characteristics Associated with Future Surgery in Intermittent Exotropia. 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

Axonal Growth Abnormalities Underlying Ocular Cranial Nerve Disorders. Annu Rev Vis Sci. 2021 09 15; 7:827-850. View Axonal Growth Abnormalities Underlying Ocular Cranial Nerve Disorders. 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

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

Ocular injury via epinephrine auto-injector. J AAPOS. 2020 06; 24(3):179-181. View Ocular injury via epinephrine auto-injector. 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

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

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

Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force. J AAPOS. 2019 08; 23(4):226-228.e1. View Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force. 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

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

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

Reply. Ophthalmology. 2017 01; 124(1):e11. View Reply. Abstract

Bifocals Fail to Improve Stereopsis Outcomes in High AC/A Accommodative Esotropia. Ophthalmology. 2016 Apr; 123(4):690-6. View Bifocals Fail to Improve Stereopsis Outcomes in High AC/A Accommodative Esotropia. 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

Complications of pediatric cataract surgery. Semin Ophthalmol. 2014 Sep-Nov; 29(5-6):414-20. View Complications of pediatric cataract surgery. Abstract

Retinal vasculature remodeling in a case of systemic lupus erythematosus vaso-occlusive retinopathy. Retin Cases Brief Rep. 2014; 8(1):77-82. View Retinal vasculature remodeling in a case of systemic lupus erythematosus vaso-occlusive retinopathy. Abstract

Dent in the forehead: a rare manifestation of metastatic cancer. Arch Ophthalmol. 2012 Oct; 130(10):1349-51. View Dent in the forehead: a rare manifestation of metastatic cancer. Abstract

A case of lower extremity venous thrombosis in the pediatric emergency department: associations with May-Thurner syndrome and isotretinoin use. Pediatr Emerg Care. 2011 Feb; 27(2):125-8. View A case of lower extremity venous thrombosis in the pediatric emergency department: associations with May-Thurner syndrome and isotretinoin use. Abstract

Short tag noose technique for optional and late suture adjustment in strabismus surgery. Arch Ophthalmol. 2009 Dec; 127(12):1584-90. View Short tag noose technique for optional and late suture adjustment in strabismus surgery. Abstract

Blood vessels form a migratory scaffold in the rostral migratory stream. J Comp Neurol. 2009 Sep 10; 516(2):94-104. View Blood vessels form a migratory scaffold in the rostral migratory stream. Abstract

Adult neurogenesis and the olfactory system. Prog Neurobiol. 2009 Oct; 89(2):162-75. View Adult neurogenesis and the olfactory system. Abstract

Principles of glomerular organization in the human olfactory bulb--implications for odor processing. PLoS One. 2008 Jul 09; 3(7):e2640. View Principles of glomerular organization in the human olfactory bulb--implications for odor processing. Abstract

Dynamic contribution of nestin-expressing stem cells to adult neurogenesis. J Neurosci. 2007 Nov 14; 27(46):12623-9. View Dynamic contribution of nestin-expressing stem cells to adult neurogenesis. Abstract

Synaptic integration of adult-generated olfactory bulb granule cells: basal axodendritic centrifugal input precedes apical dendrodendritic local circuits. J Neurosci. 2007 Sep 12; 27(37):9951-61. View Synaptic integration of adult-generated olfactory bulb granule cells: basal axodendritic centrifugal input precedes apical dendrodendritic local circuits. Abstract

Adult-generated neurons exhibit diverse developmental fates. Dev Neurobiol. 2007 Jul; 67(8):1079-93. View Adult-generated neurons exhibit diverse developmental fates. Abstract

A unique subpopulation of Tbr1-expressing deep layer neurons in the developing cerebral cortex. Mol Cell Neurosci. 2006 May-Jun; 32(1-2):200-14. View A unique subpopulation of Tbr1-expressing deep layer neurons in the developing cerebral cortex. Abstract

A unique subpopulation of Tbr1-expressing deep layer neurons in the developing cerebral cortex. Mol Cell Neurosci. 2005 Dec; 30(4):538-51. View A unique subpopulation of Tbr1-expressing deep layer neurons in the developing cerebral cortex. Abstract

Disulfide bond-mediated dimerization of HLA-G on the cell surface. Proc Natl Acad Sci U S A. 2002 Dec 10; 99(25):16180-5. View Disulfide bond-mediated dimerization of HLA-G on the cell surface. Abstract

Binding of the natural killer cell inhibitory receptor Ly49A to its major histocompatibility complex class I ligand. Crucial contacts include both H-2Dd AND beta 2-microglobulin. J Biol Chem. 2002 Jan 11; 277(2):1433-42. View Binding of the natural killer cell inhibitory receptor Ly49A to its major histocompatibility complex class I ligand. Crucial contacts include both H-2Dd AND beta 2-microglobulin. Abstract

Kinetics and thermodynamics of beta 2-microglobulin binding to the alpha 3 domain of major histocompatibility complex class I heavy chain. Biochemistry. 2001 May 01; 40(17):5233-42. View Kinetics and thermodynamics of beta 2-microglobulin binding to the alpha 3 domain of major histocompatibility complex class I heavy chain. Abstract

The isolated major histocompatibility complex class I alpha3 domain binds beta2m and CD8alphaalpha dimers. Mol Immunol. 2000 Feb-Mar; 37(3-4):141-9. View The isolated major histocompatibility complex class I alpha3 domain binds beta2m and CD8alphaalpha dimers. Abstract

ICAM-1 co-stimulation has differential effects on the activation of CD4+ and CD8+ T cells. Eur J Immunol. 1999 03; 29(3):809-14. View ICAM-1 co-stimulation has differential effects on the activation of CD4+ and CD8+ T cells. Abstract

Duane Syndrome. GeneReviews®. 1993. View Duane Syndrome Abstract

Congenital Fibrosis of the Extraocular Muscles. GeneReviews®. 1993. View Congenital Fibrosis of the Extraocular Muscles Abstract