Elizabeth C. Engle

The genetic basis of complex strabismus.

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

Genetic basis of congenital strabismus.

Oculomotility disorders arising from disruptions in brainstem motor neuron development.

The clinical spectrum of homozygous HOXA1 mutations.

Human genetic disorders of axon guidance.

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

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

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

Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.

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

RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.

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

Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome.

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

Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.

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

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

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.

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

Biallelic mutations in human DCC cause developmental split-brain syndrome.

Mutant α2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome.

Ocular Motor Nerve Development in the Presence and Absence of Extraocular Muscle.

Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.

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

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

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

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

Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.

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

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

Altered White Matter Organization in the TUBB3 E410K Syndrome.

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

Stem cell-derived cranial and spinal motor neurons reveal proteostatic differences between ALS resistant and sensitive motor neurons.

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

Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans.

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

Congenital monocular elevation deficiency associated with a novel gene variant.

Phenotype delineation of ZNF462 related syndrome.

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

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