Last Updated: 09/26/2026
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Found 87 publications
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.
Journal: medRxiv : the preprint server for health sciences
Published: July 03, 2026
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.
Journal: American journal of human genetics
Published: June 05, 2026
Prevalence of Strabismus and Decreased Stereopsis in Parents of Children with Strabismus.
Journal: Ophthalmology
Published: February 27, 2026
Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders.
Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Published: July 04, 2025
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.
Journal: medRxiv : the preprint server for health sciences
Published: May 19, 2025
Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays.
Journal: Investigative ophthalmology & visual science
Published: March 31, 2025
Systematic phenotype and genotype characterization of Moebius syndrome.
Journal: Genetics in medicine open
Published: November 05, 2024
Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays.
Journal: bioRxiv : the preprint server for biology
Published: September 24, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Journal: medRxiv : the preprint server for health sciences
Published: April 08, 2024
Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness.
Journal: International journal of environmental research and public health
Published: March 27, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 22, 2024
Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia.
Journal: JAMA ophthalmology
Published: February 15, 2024
Last Updated: 09/26/2026