Last Updated: 09/26/2026
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Found 163 publications
Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.
Journal: American journal of medical genetics. Part A
Published: April 29, 2026
Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.
Journal: Brain : a journal of neurology
Published: February 10, 2026
Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).
Journal: Clinical genetics
Published: January 27, 2026
A transposase-derived gene required for human brain development.
Journal: Science advances
Published: January 14, 2026
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
Journal: medRxiv : the preprint server for health sciences
Published: November 24, 2025
PANK2-mediated de novo CoA synthesis is required for metabolic switching to fatty acid oxidation.
Journal: bioRxiv : the preprint server for biology
Published: November 24, 2025
Stimulation-Related Increases in Power Spectral Density Covary With Clinical Evidence of Overstimulation During Deep Brain Stimulation for Pediatric Dystonia.
Journal: Neuromodulation : journal of the International Neuromodulation Society
Published: November 01, 2025
Benchmarking models of care delivery within Cerebral Palsy Research Network sites.
Journal: Developmental medicine and child neurology
Published: September 21, 2025
Using expert-cited features to detect leg dystonia in cerebral palsy.
Journal: medRxiv : the preprint server for health sciences
Published: August 12, 2025
Influenza-Associated Acute Necrotizing Encephalopathy in US Children.
Journal: JAMA
Published: July 30, 2025
Using Expert-Cited Features to Detect Leg Dystonia in Cerebral Palsy.
Journal: Annals of neurology
Published: July 07, 2025
Last Updated: 09/26/2026