Francesca Novara

Pavia, Italy

Last Updated: 09/26/2026

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Found 40 publications

Clinical Insights Into Nabais Sá-De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features.

Clinical Insights Into Nabais Sá-De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features.

Journal: American journal of medical genetics. Part A

Published: August 27, 2024

Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.

Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.

Journal: Nature communications

Published: May 18, 2023

SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.

SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.

Journal: Nature communications

Published: January 25, 2023

Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.

Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.

Journal: Nature communications

Published: March 21, 2022

Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.

Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.

Journal: Seizure

Published: July 14, 2020

The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic Astrocytoma.

The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic Astrocytoma.

Journal: Cancer genomics & proteomics

Published: November 22, 2019

Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype.

Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype.

Journal: American journal of medical genetics. Part A

Published: October 19, 2019

De novo unbalanced translocations have a complex history/aetiology.

De novo unbalanced translocations have a complex history/aetiology.

Journal: Human genetics

Published: August 14, 2018

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.

Journal: Journal of visualized experiments : JoVE

Published: December 30, 2017

Three Reportedly Unrelated Families With Liddle Syndrome Inherited From a Common Ancestor.

Three Reportedly Unrelated Families With Liddle Syndrome Inherited From a Common Ancestor.

Journal: Hypertension (Dallas, Tex. : 1979)

Published: October 18, 2017

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.

Journal: Clinical genetics

Published: March 31, 2017

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.

Journal: Orphanet journal of rare diseases

Published: January 05, 2017

Showing 1-12 of 40

Last Updated: 09/26/2026