Sarah E. Mackinnon

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

Janice S. Lee, F. Collins, E. Jabs, 2021, Human Genetics.

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

T. Crawford, P. Grant, E. Jabs, 2013, Brain : a journal of neurology.

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

J. Nathans, C. Robson, E. Engle, 2017, Developmental cell.

Adult Strabismus Preferred Practice Pattern®.

D. Stager, B. Kushner, S. Archer, 2019, Ophthalmology.

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Janice S. Lee, M. Leppert, F. Collins, 2017, Nature Communications.

Improving ophthalmic outcomes in children with unilateral coronal synostosis by treatment with endoscopic strip craniectomy and helmet therapy rather than fronto-orbital advancement.

J. Meara, M. Proctor, Sarah Whitecross, 2013, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Treatment of unilateral coronal synostosis by endoscopic strip craniectomy or fronto-orbital advancement: Ophthalmologic findings.

J. Mulliken, M. Proctor, M. Gregas, 2009, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Nonsyndromic Unilateral Coronal Synostosis: A Comparison of Fronto-Orbital Advancement and Endoscopic Suturectomy

J. Meara, M. Proctor, G. Rogers, 2019, Plastic and reconstructive surgery.

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

D. MacArthur, D. Hunter, A. O’Donnell-Luria, 2021, European Journal of Human Genetics.

Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.

D. Hunter, E. Engle, C. Andrews, 2014, Ophthalmology.

HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.

E. Jabs, D. Hunter, C. Schubert, 2012, American journal of human genetics.

HOXB 1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb 1 [ superscript / ] Mice

E. Jabs, D. Hunter, C. Schubert, 2022 .

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

D. Hunter, D. Mackey, I. Gottlob, 2018, Investigative ophthalmology & visual science.

TUBB3 Missense Mutations Cause Atypical Moebius Syndrome Phenotypically Identical to CFEOM3

D. Hunter, E. Engle, C. Andrews, 2011 .

Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles.

D. Hunter, E. Engle, G. Heidary, 2019, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Rectus muscle excyclorotation and V-pattern strabismus: a quantitative appraisal of clinical relevance in syndromic craniosynostosis

S. Prabhu, D. Zurakowski, L. Dagi, 2017, British Journal of Ophthalmology.

Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development

F. Garaci, D. Hunter, S. Stasheff, 2016, American journal of medical genetics. Part A.

Recurrent Rare Copy Number Variants Increase Risk for Esotropia

C. Pato, M. Pato, J. Knowles, 2020, Investigative ophthalmology & visual science.

Long-term ophthalmic outcomes in 120 children with unilateral coronal synostosis: a 20-year retrospective analysis.

D. Zurakowski, L. Dagi, Abdelrahman M. Elhusseiny, 2021, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

The present and potential impact of research on animal models for clinical treatment of stimulus deprivation amblyopia

D. Mitchell, Sarah E. Mackinnon, 2002, Clinical & experimental optometry.

Consecutive superior oblique palsy after adjustable suture spacer surgery for Brown syndrome: incidence and predicting risk.

D. Zurakowski, Medha Sharma, L. Dagi, 2018, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Superior rectus transposition vs medial rectus recession for treatment of esotropic Duane syndrome.

D. Hunter, L. Dagi, Sarah E. Mackinnon, 2014, JAMA ophthalmology.

Severe reverse amblyopia with atropine penalization.

D. Hunter, Abdelrahman M. Elhusseiny, Carolyn Wu, 2020, Journal of AAPOS.

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

P. Kang, E. Engle, C. Andrews, 2015, The Journal of clinical endocrinology and metabolism.

Orbital and Eyelid Characteristics, Strabismus, and Intracranial Pressure Control in Apert Children Treated by Endoscopic Strip Craniectomy versus Fronto-Orbital Advancement

S. Prabhu, J. Meara, M. Proctor, 2023, Plastic and reconstructive surgery. Global open.

Improving ophthalmic outcomes in children with unilateral coronal synostosis by treatment with endoscopic strip craniectomy and helmet therapy rather than fronto-orbital advancement.

J. Meara, M. Proctor, Sarah Whitecross, 2013, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.

D. Hunter, E. Engle, C. Andrews, 2014, Ophthalmology.

HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1[superscript −/−] Mice

E. Jabs, D. Hunter, C. Schubert, 2012 .