Silvia Bione

Pavia, 27100, Italy

Last Updated: 09/26/2026

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Found 20 publications

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

Journal: American journal of human genetics

Published: August 13, 2025

TERRA ONTseq: a long-read-based sequencing pipeline to study the human telomeric transcriptome.

TERRA ONTseq: a long-read-based sequencing pipeline to study the human telomeric transcriptome.

Journal: RNA (New York, N.Y.)

Published: November 30, 2023

Author Correction: TERRA transcription destabilizes telomere integrity to initiate break-induced replication in human ALT cells.

Author Correction: TERRA transcription destabilizes telomere integrity to initiate break-induced replication in human ALT cells.

Journal: Nature communications

Published: June 28, 2023

Alternative Splicing Changes Promoted by NOVA2 Upregulation in Endothelial Cells and Relevance for Gastric Cancer.

Alternative Splicing Changes Promoted by NOVA2 Upregulation in Endothelial Cells and Relevance for Gastric Cancer.

Journal: International journal of molecular sciences

Published: March 29, 2023

Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.

Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.

Journal: Clinical genetics

Published: December 19, 2022

DEAD-Box RNA Helicases DDX3X and DDX5 as Oncogenes or Oncosuppressors: A Network Perspective.

DEAD-Box RNA Helicases DDX3X and DDX5 as Oncogenes or Oncosuppressors: A Network Perspective.

Journal: Cancers

Published: July 12, 2022

Reduced levels of prostaglandin I2 synthase: a distinctive feature of the cancer-free trichothiodystrophy.

Reduced levels of prostaglandin I2 synthase: a distinctive feature of the cancer-free trichothiodystrophy.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: June 22, 2021

A Role for Human DNA Polymerase λ in Alternative Lengthening of Telomeres.

A Role for Human DNA Polymerase λ in Alternative Lengthening of Telomeres.

Journal: International journal of molecular sciences

Published: January 20, 2021

TERRA transcription destabilizes telomere integrity to initiate break-induced replication in human ALT cells.

TERRA transcription destabilizes telomere integrity to initiate break-induced replication in human ALT cells.

Journal: Nature communications

Published: October 19, 2020

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.

Journal: Human molecular genetics

Published: September 11, 2020

GC-AG Introns Features in Long Non-coding and Protein-Coding Genes Suggest Their Role in Gene Expression Regulation.

GC-AG Introns Features in Long Non-coding and Protein-Coding Genes Suggest Their Role in Gene Expression Regulation.

Journal: Frontiers in genetics

Published: December 13, 2019

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.

Journal: American journal of human genetics

Published: March 28, 2019

Showing 1-12 of 20

Last Updated: 09/26/2026