Last Updated: 09/26/2026
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Found 9 publications
Domain-specific mechanisms of YAP1 variants in ocular coloboma revealed by in-vitro and organoid studies.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: October 08, 2025
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.
Journal: American journal of human genetics
Published: September 13, 2024
Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay.
Journal: Clinical kidney journal
Published: March 15, 2024
Clinical case report: mosaic ANK3 pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay.
Journal: Cold Spring Harbor molecular case studies
Published: March 18, 2023
Large Chromosome 2p Duplication-Associated Mechanisms and Clinical Presentations.
Journal: Cytogenetic and genome research
Published: January 20, 2023
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Journal: American journal of human genetics
Published: November 05, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Journal: American journal of human genetics
Published: April 06, 2021
Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic Conditions.
Journal: Journal of child neurology
Published: January 05, 2019
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Last Updated: 09/26/2026