Last Updated: 09/26/2026
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Found 34 publications
Long-read sequencing reveals extensive FMR1 somatic mosaicism in Fragile-X associated tremor/ataxia syndrome in human brain.
Journal: bioRxiv : the preprint server for biology
Published: November 24, 2025
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 23, 2025
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 23, 2025
Exon-skipping due to bi-allelic splice site mutations in the neurodevelopmental disease gene LNPK.
Journal: HGG advances
Published: June 16, 2025
Increased Complement C4 in a Sparse Neuronal Subset Induces Network-Wide Transcriptomic Alterations in the Prefrontal Cortex.
Journal: bioRxiv : the preprint server for biology
Published: June 12, 2025
scDown: A Pipeline for Single-Cell RNA-Seq Downstream Analysis.
Journal: International journal of molecular sciences
Published: April 22, 2025
Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective.
Journal: Genes
Published: December 23, 2024
Beyond the Synapse: FMR1 and FMRP Molecular Mechanisms in the Nucleus.
Journal: International journal of molecular sciences
Published: November 21, 2024
Characterizing the female brain in fragile X syndrome.
Journal: Developmental medicine and child neurology
Published: August 13, 2024
Cell-type-specific effects of autism-associated chromosome 15q11.2-13.1 duplications in human brain.
Cell-type-specific effects of autism-associated chromosome 15q11.2-13.1 duplications in human brain.
Journal: bioRxiv : the preprint server for biology
Published: June 03, 2024
Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain.
Journal: American journal of human genetics
Published: April 02, 2024
Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: May 30, 2023
Last Updated: 09/26/2026