Susanna Balcells

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 14

Top Topics

Genome Wide Association

Dna Methylation

Bone Mineral Density

Top Venues

Journal of medical genetics

International journal of molecular sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Neus Roca-Ayats, Iago Maceda, Carlos David Bruque, Núria Martínez-Gil, Natalia García-Giralt, Mónica Cozar, Leonardo Mellibovsky, Wim Van Hul, Oscar Lao, Daniel Grinberg, Susanna Balcells
Evolutionary and functional analyses of LRP5 in archaic and extant modern humans. Human genomics 18 (1) (2024)
Mónica Centeno-Pla, Estefanía Alcaide-Consuegra, Sophie Gibson, Aina Prat-Planas, Juan Diego Gutiérrez-Ávila, Daniel Grinberg, Roser Urreizti, Raquel Rabionet Janssen, Susanna Balcells
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome. Journal of medical genetics 61 (8) (2024)
Mónica Centeno-Pla, Estefanía Alcaide-Consuegra, Sophie Gibson, Aina Prat-Planas, Juan Diego Gutiérrez-Ávila, Daniel Grinberg, Roser Urreizti, Raquel Rabionet Janssen, Susanna Balcells
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome. Journal of medical genetics (2024)
Neus Roca-Ayats, Iago Maceda, Carlos David Bruque, Núria Martínez-Gil, Natalia García-Giralt, Mónica Cozar, Leonardo Mellibovsky, Wim Van Hul, Oscar Lao, Daniel Grinberg, Susanna Balcells
Evolutionary and functional analyses of LRP5 in archaic and extant modern humans. Human genomics 18 (1) (2024)
Neus Roca-Ayats, Iago Maceda, Carlos David Bruque, Núria Martínez-Gil, Natalia García-Giralt, Mónica Cozar, Leonardo Mellibovsky, Wim Van Hul, Oscar Lao, Daniel Grinberg, Susanna Balcells
Evolutionary and functional analyses of LRP5 in archaic and extant modern humans. Human genomics 18 (1) (2024)
Neus Roca-Ayats, Iago Maceda, Carlos David Bruque, Núria Martínez-Gil, Natalia García-Giralt, Mónica Cozar, Leonardo Mellibovsky, Wim Van Hul, Oscar Lao, Daniel Grinberg, Susanna Balcells
Evolutionary and functional analyses of LRP5 in archaic and extant modern humans. Human genomics 18 (1) (2024)
Arístides López-Márquez, Matias Morín, Sergio Fernández-Peñalver, Carmen Badosa, Alejandro Hernández-Delgado, Daniel Natera-de Benito, Carlos Ortez, Andrés Nascimento, Daniel Grinberg, Susanna Balcells, Mónica Roldán, Miguel Angel Moreno-Pelayo, Cecilia Jiménez-Mallebrera
CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts. International journal of molecular sciences 23 (8) (2022)
Natalia García-Giralt, Neus Roca-Ayats, Josep Francesc Abril, Nuria Martinez-Gil, Diana Ovejero, Santos Castañeda, Xavier Nogues, Daniel Grinberg, Susanna Balcells, Raquel Rabionet Janssen
Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment. Genes 13 (1) (2022)
Núria Martínez-Gil, Diana Ovejero, Natalia García-Giralt, Carlos David Bruque, Leonardo Mellibovsky, Xavier Nogués, Raquel Rabionet, Daniel Grinberg, Susanna Balcells
Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci. JBMR plus 6 (4) (2022)
Núria Martínez-Gil, Nerea Ugartondo, Daniel Grinberg, Susanna Balcells
Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis. Genes 13 (1) (2022)
Laura Domènech, Jesse Willis, Maria Alemany-Navarro, Marta Morell, Eva Real, Geòrgia Escaramís, Sara Bertolín, Daniel Sánchez Chinchilla, Susanna Balcells, Cinto Segalàs, Xavier Estivill, Jose M Menchón, Toni Gabaldón, Pino Alonso, Raquel Rabionet Janssen
Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder. Scientific reports 12 (1) (2022)
Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, Héctor Franco-Valls, Raúl Martínez-Cabrera, Aina Prat-Planas, Elena Rojano, Juan A G Ranea, Pedro Seoane, Clara Oliva, Abraham J Paredes-Fuentes, Gemma Marfany, Rafael Artuch, Daniel Grinberg, Raquel Rabionet Janssen, Susanna Balcells, Roser Urreizti
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2. Journal of medical genetics (2022)
Nerea Ugartondo, Núria Martínez-Gil, Mònica Esteve, Natalia García-Giralt, Neus Roca-Ayats, Diana Ovejero, Xavier Nogués, Adolfo Díez-Pérez, Raquel Rabionet Janssen, Daniel Grinberg, Susanna Balcells
Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures. International journal of molecular sciences 22 (14) (2021)
Núria Martínez-Gil, Neus Roca-Ayats, Nurgül Atalay, Marta Pineda-Moncusí, Natalia García-Giralt, Wim Van Hul, Eveline Boudin, Diana Ovejero, Leonardo Mellibovsky, Xavier Nogués, Adolfo Diez-Perez, Daniel Grinberg, Susanna Balcells
Functional Assessment of Coding and Regulatory Variants From the DKK1 Locus. JBMR plus 4 (12) (2020)