Area of research
Ophthalmology · Pathology and Forensic Medicine
Research interest
Research interests include Retinal Diseases and Treatments, Ocular Diseases and Behçet’s Syndrome, Ophthalmology and Eye Disorders, and Glaucoma and retinal disorders.
Systematic phenotype and genotype characterization of Moebius syndrome
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
Recessive variants in <i>COL25A1</i> gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles
Recurrent Rare Copy Number Variants Increase Risk for Esotropia
Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans
Congenital monocular elevation deficiency associated with a novel<i>TUBB3</i>gene variant
Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect
Altered White Matter Organization in the TUBB3 E410K Syndrome
Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome
Biallelic mutations in human DCC cause developmental split-brain syndrome
Human Schwann cells exhibit long‐term cell survival, are not tumorigenic and promote repair when transplanted into the contused spinal cord
Mutant α2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects
Two unique <i>TUBB3</i> mutations cause both CFEOM3 and malformations of cortical development
Expanding the Phenotypic Spectrum and Variability of Endocrine Abnormalities Associated With TUBB3 E410K Syndrome
Transforming cardiac rehabilitation into broad-based healthy lifestyle programs to combat noncommunicable disease
Human CFEOM1 Mutations Attenuate KIF21A Autoinhibition and Cause Oculomotor Axon Stalling
Diagnostic Distinctions and Genetic Analysis of Patients Diagnosed with Moebius Syndrome
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3
Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation
Effect of Gender on Recovery After Spinal Cord Injury
<i>RYR1</i>Mutations as a Cause of Ophthalmoplegia, Facial Weakness, and Malignant Hyperthermia