Last Updated: 09/26/2026
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Found 144 publications
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.
Journal: Nature genetics
Published: May 18, 2026
Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families.
Journal: medRxiv : the preprint server for health sciences
Published: January 08, 2026
MECP2 Duplication Uncouples Mitochondrial and Purine Metabolism During neuronal maturation.
Journal: bioRxiv : the preprint server for biology
Published: January 07, 2026
Expert Consensus on Real-World Use of Trofinetide for Rett Syndrome Using a Modified Delphi Method.
Journal: Annals of the Child Neurology Society
Published: December 15, 2025
Copy Number Gains at 17p11.2 Sparing RAI1: A Shared Phenotype Pattern.
Journal: American journal of medical genetics. Part A
Published: December 11, 2025
Double Mosaicism in Xia-Gibbs Syndrome.
Journal: American journal of medical genetics. Part A
Published: November 17, 2025
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.
Journal: Nature genetics
Published: August 18, 2025
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.
Journal: Nature genetics
Published: August 18, 2025
Using the linear references from the pangenome to discover missing autism variants.
Journal: Nature communications
Published: August 11, 2025
Pangenome discovery of missing autism variants.
Journal: medRxiv : the preprint server for health sciences
Published: August 08, 2025
Last Updated: 09/26/2026