Lisa Pavinato
Turin, 10126, Italy
Last Updated: 09/26/2026
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Found 26 publications
Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.
Journal: Research square
Published: January 08, 2026
The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.
Journal: Human genetics
Published: November 21, 2025
A novel spliceosomopathy caused by de novo SF3B3 variants.
Journal: Genome medicine
Published: April 26, 2025
A Systems Biology Approach for Prioritizing ASD Genes in Large or Noisy Datasets.
Journal: International journal of molecular sciences
Published: January 28, 2025
Arg209Lys and Gln508His missense variants in Rabphilin 3A cause pre- and post-synaptic dysfunctions at excitatory glutamatergic synapses.
Journal: Scientific reports
Published: November 21, 2024
Oncogenic competence: balancing mutations, cellular state, and microenvironment.
Journal: Trends in cancer
Published: October 01, 2024
Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations.
Journal: Clinical genetics
Published: September 30, 2024
RICTOR variants are associated with neurodevelopmental disorders.
Journal: European journal of human genetics : EJHG
Published: August 01, 2024
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 05, 2024
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.
Journal: Journal of clinical immunology
Published: April 30, 2024
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
Journal: HGG advances
Published: December 06, 2023
Identification of the DNA methylation signature of Mowat-Wilson syndrome.
Journal: European journal of human genetics : EJHG
Published: October 24, 2023
Last Updated: 09/26/2026