Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis

by Núria Martínez-Gil, Nerea Ugartondo, Daniel Grinberg, Susanna Balcells
Published 2022-01-01

Functional characterization of CYP1A1 variants identified in patients who sustained bisphosphonate-related atypical femoral fractures

by Nerea Ugartondo, Monica Esteve, Natalia Garcia-Giralt, Nuria Martinez-Gil, Raquel Rabionet, Daniel Grinberg, Susanna Balcells
Published 2021-04-01

Effect of the Tumor Suppressor miR-320a on Viability and Functionality of Human Osteosarcoma Cell Lines Compared to Primary Osteoblasts

by Laura De-Ugarte, Susanna Balcells, Robert Guerri-Fernandez, Daniel Grinberg, Adolfo Diez-Perez, Xavier Nogues, Natalia Garcia-Giralt
Published 2020-04-01

Genetics and Genomics of <i>SOST</i>: Functional Analysis of Variants and Genomic Regulation in Osteoblasts

by Núria Martínez-Gil, Neus Roca-Ayats, Mónica Cozar, Natàlia Garcia-Giralt, Diana Ovejero, Xavier Nogués, Daniel Grinberg, Susanna Balcells
Published 2021-01-01

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

by Núria Martínez-Gil, Leonardo Mellibovsky, Demián Manzano-López González, Juan David Patiño, Monica Cozar, Raquel Rabionet, Daniel Grinberg, Susanna Balcells
Published 2022-06-01

Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci

by Núria Martínez‐Gil, Diana Ovejero, Natalia Garcia‐Giralt, Carlos David Bruque, Leonardo Mellibovsky, Xavier Nogués, Raquel Rabionet, Daniel Grinberg, Susanna Balcells
Published 2022-04-01

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

by Natalia Garcia-Giralt, Neus Roca-Ayats, Josep F Abril, Nuria Martinez-Gil, Diana Ovejero, Santos Castañeda, Xavier Nogues, Daniel Grinberg, Susanna Balcells, Raquel Rabionet
Published 2022-01-01

Functional Analyses of Four <i>CYP1A1</i> Missense Mutations Present in Patients with Atypical Femoral Fractures

by Nerea Ugartondo, Núria Martínez-Gil, Mònica Esteve, Natàlia Garcia-Giralt, Neus Roca-Ayats, Diana Ovejero, Xavier Nogués, Adolfo Díez-Pérez, Raquel Rabionet, Daniel Grinberg, Susanna Balcells
Published 2021-07-01

De Novo <i>PORCN</i> and <i>ZIC2</i> Mutations in a Highly Consanguineous Family

by Laura Castilla-Vallmanya, Semra Gürsoy, Özlem Giray-Bozkaya, Aina Prat-Planas, Gemma Bullich, Leslie Matalonga, Mónica Centeno-Pla, Raquel Rabionet, Daniel Grinberg, Susanna Balcells, Roser Urreizti
Published 2021-02-01

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

by Neus Roca-Ayats, Iago Maceda, Carlos David Bruque, Núria Martínez-Gil, Natàlia Garcia-Giralt, Mónica Cozar, Leonardo Mellibovsky, Wim Van Hul, Oscar Lao, Daniel Grinberg, Susanna Balcells
Published 2024-05-01

Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder

by 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
Published 2022-01-01

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

by Arístides López-Márquez, Matías Morín, Sergio Fernández-Peñalver, Carmen Badosa, Alejandro Hernández-Delgado, Daniel Natera-de Benito, Carlos Ortez, Andrés Nascimento, Daniel Grinberg, Susanna Balcells, Mónica Roldán, Miguel Ángel Moreno-Pelayo, Cecilia Jiménez-Mallebrera
Published 2022-04-01

Functional assessment of coding and regulatory variants from the DKK1 locus

by Núria Martínez-Gil, Neus Roca-Ayats, Nurgül Atalay, Marta Pineda-Moncusí, Natàlia Garcia-Giralt, Wim Van Hul, Eveline Boudin, Sergi Vives, Mireia Vinardell, Leonardo Mellibovsky, Xavier Nogués, Diana Ovejero, Adolfo Díez-Pérez, Daniel Grinberg, Susanna Balcells
Published 2020-10-01

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

by Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, Montse Pujadas, Laura Castilla-Vallmanya, Luis Alberto Pérez-Jurado, Mercedes Serrano, Daniel Natera-de Benito, Beatriz Martínez-Delgado, Manuel Posada-de-la-Paz, Javier Alonso, Purificación Marin-Reina, Mar O’Callaghan, Daniel Grinberg, Eva Bermejo-Sánchez, Susanna Balcells
Published 2020-02-01

A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders

by Melissa M. Formosa, Melissa M. Formosa, Dylan J. M. Bergen, Dylan J. M. Bergen, Celia L. Gregson, Antonio Maurizi, Anders Kämpe, Anders Kämpe, Natalia Garcia-Giralt, Wei Zhou, Daniel Grinberg, Diana Ovejero Crespo, M. Carola Zillikens, Graham R. Williams, J. H. Duncan Bassett, Maria Luisa Brandi, Luca Sangiorgi, Susanna Balcells, Wolfgang Högler, Wolfgang Högler, Wim Van Hul, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie
Published 2021-08-01

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

by Martina Rauner, Martina Rauner, Ines Foessl, Melissa M. Formosa, Melissa M. Formosa, Erika Kague, Vid Prijatelj, Vid Prijatelj, Vid Prijatelj, Nerea Alonso Lopez, Bodhisattwa Banerjee, Dylan Bergen, Dylan Bergen, Björn Busse, Ângelo Calado, Eleni Douni, Eleni Douni, Yankel Gabet, Natalia García Giralt, Daniel Grinberg, Nika M. Lovsin, Xavier Nogues Solan, Barbara Ostanek, Nathan J. Pavlos, Fernando Rivadeneira, Ivan Soldatovic, Jeroen van de Peppel, Bram van der Eerden, Wim van Hul, Susanna Balcells, Janja Marc, Sjur Reppe, Sjur Reppe, Sjur Reppe, Kent Søe, Kent Søe, Kent Søe, David Karasik, David Karasik
Published 2021-11-01