Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 30 publications
Ccdc57 regulates cilia and left-right patterning in Xenopus.
Journal: Biology open
Published: January 22, 2026
Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine Supplementation.
Journal: Journal of inherited metabolic disease
Published: May 24, 2025
Precision medicine in the pediatric and neonatal intensive care units through genomics.
Journal: Current opinion in pediatrics
Published: April 29, 2025
Polyamine metabolism is dysregulated in COXFA4-related mitochondrial disease.
Journal: HGG advances
Published: December 06, 2024
Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: June 25, 2024
Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: March 11, 2024
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow.
Journal: Life science alliance
Published: March 11, 2024
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.
Journal: Brain : a journal of neurology
Published: April 28, 2023
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: April 12, 2023
A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus.
Journal: medRxiv : the preprint server for health sciences
Published: March 30, 2023
Last Updated: 09/26/2026