Susanna Balcells

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 30 publications

Rare Variant Association Analysis Uncovers Involvement of VNN2 in Stroke Outcome.

Rare Variant Association Analysis Uncovers Involvement of VNN2 in Stroke Outcome.

Journal: Stroke
Published: June 11, 2025

Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures.

Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures.

Journal: Human genomics
Published: May 23, 2024

Evolutionary and functional analyses of LRP5 in archaic and extant modern humans.

Evolutionary and functional analyses of LRP5 in archaic and extant modern humans.

Journal: Human genomics
Published: February 02, 2024

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.

Journal: Pediatric neurology
Published: December 20, 2023

Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.

Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.

Journal: Journal of medical genetics
Published: May 09, 2022

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.

Journal: International journal of molecular sciences
Published: March 02, 2022

Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions.

Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions.

Journal: Bone
Published: January 20, 2022

Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment.

Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment.

Journal: Genes
Published: December 10, 2021

Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis.

Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis.

Journal: Genes
Published: December 10, 2021

Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques.

Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques.

Journal: Frontiers in endocrinology
Published: June 26, 2021

On the association between Chiari malformation type 1, bone mineral density and bone related genes.

On the association between Chiari malformation type 1, bone mineral density and bone related genes.

Journal: Bone reports
Published: June 12, 2021

Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures.

Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures.

Journal: International journal of molecular sciences
Published: May 26, 2021
Showing 1-12 of 30

Last Updated: 09/26/2026