Persones / Equip Humà

Susana Balcells Comas

Buscador de publicacions

Publicacions

  • Garcia-Giralt N, Ovejero D, Grinberg-Vaisman DR, Nogues X, Castañeda S, Balcells S and Rabionet-Janssen R.

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

    HUMAN GENOMICS . 18(1): 87-87.

    [doi:10.1186/s40246-024-00652-2]

  • Centeno-Pla M, Alcaide-Consuegra E, Gibson S, Prat-Planas A, Gutiérrez-Ávila JD, Grinberg-Vaisman DR, Urreizti R, Rabionet-Janssen R and Balcells S.

    Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome.

    JOURNAL OF MEDICAL GENETICS . 61(8): 780-782. Nº de cites: 2

    [doi:10.1136/jmg-2024-109898]

  • Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny T, Casas-Alba D, Grinberg-Vaisman DR, Balcells S, Serrano M, Rabionet-Janssen R, Martin MA and Urreizti R.

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

    PEDIATRIC NEUROLOGY . 155: 8-17.

    [doi:10.1016/j.pediatrneurol.2024.03.008]

  • Roca N, Maceda I, Bruque CD, Martinez-Gil N, Garcia-Giralt N, Cozar M, Mellibovsky L, Van Hul W, Lao O, Grinberg-Vaisman DR and Balcells S.

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

    HUMAN GENOMICS . 18(1): 53-53.

    [doi:10.1186/s40246-024-00616-6]

  • Castilla-Vallmanya L, Centeno-Pla M, Serrano M, Franco-Valls, H, Martinez-Cabrera, R, Prat-Planas, A, Rojano, E, Ranea, JAG, Seoane, P, Oliva-Mussara C, Paredes-Fuentes, AJ, Marfany G, Artuch-Iriberri R, Grinberg-Vaisman DR, Rabionet-Janssen R, Balcells S and Urreizti R.

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

    JOURNAL OF MEDICAL GENETICS . 60(4): 406-415. Nº de cites: 4

    [doi:10.1136/jmg-2022-108690]

  • Martinez-Gil N, Patino-Salazar JD, Rabionet-Janssen R, Grinberg-Vaisman DR and Balcells S.

    Genome-wide association studies (GWAS) vs functional validation: the challenge of the post-GWAS era

    Revista de Osteoporosis y Metabolismo Mineral . 15(1): 29-39. Nº de cites: 1

    [doi:10.20960/RevOsteoporosMetabMiner.00008]

  • Ovejero D, Garcia-Giralt N, Martinez-Gil N, Rabionet-Janssen R, Balcells S, Grinberg-Vaisman DR, Pérez-Jurado L, Nogués X and Foronda IE.

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

    Bone . 161: 116450-116450. Nº de cites: 2

    [doi:10.1016/j.bone.2022.116450]

  • Martinez-Gil N, Mellibovsky L, Manzano-López González D, Patiño JD, Cozar M, Rabionet-Janssen R, Grinberg-Vaisman DR and Balcells S.

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

    Bone Reports . 16: 101181-101181. Nº de cites: 5

    [doi:10.1016/j.bonr.2022.101181]

  • Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch-Iriberri R, Gallano P, Garrabou G, González JR, Grinberg-Vaisman DR, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA and Beltran S.

    Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

    JOURNAL OF MOLECULAR DIAGNOSTICS . 24(5): 529-542. Nº de cites: 6

    [doi:10.1016/j.jmoldx.2022.02.003]

  • Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.

    CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

    CLINICAL GENETICS . 101(5-6): 481-493. Nº de cites: 8

    [doi:10.1111/cge.14113]