People / Staff

Raquel Rabionet Janssen

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Publications

  • Patiño-Salazar JD, Ovejero D, Gabernet M, Martinez-Gil N, Alcaide E, Mellibovsky L, Nogués X, Grinberg-Vaisman DR, Balcells S, Rabionet-Janssen R and Garcia-Giralt N.

    Identifying rare variants in genes related to bone phenotypes in a cohort of postmenopausal women

    OSTEOPOROSIS INTERNATIONAL . : .

    [doi:10.1007/s00198-025-07413-4]

  • Ovejero D, Garcia-Giralt N, Patiño-Salazar JD, Rabionet-Janssen R and Nogués X.

    Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signaling

    OSTEOPOROSIS INTERNATIONAL . : 555-559.

    [doi:10.1007/s00198-024-07382-0]

  • 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. Number of citations: 3

    [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]

  • Medina-Dols A, Cañellas G, Capó T, Solé M, Mola-Caminal M, Cullell N, Jaume M, Nadal-Salas L, Llinàs J, Gómez L, Tur S, Jiménez C, Díaz RM, Carrera C, Muiño E, Gallego-Fabrega C, Soriano-Tárraga C, Ruiz-Guerra L, Pol-Fuster J, Asensio V, Muncunill J, Fleischer A, Iglesias A, Giralt-Steinhauer E, Lazcano U, Fernández-Pérez I, Jiménez-Balado J, Gabriel-Salazar M, Garcia-Gabilondo M, Lei T, Torres-Aguila NP, Cárcel-Márquez J, Lladó J, Olmos G, Rosell A, Montaner J, Planas AM, Rabionet-Janssen R, Hernández-Guillamon M, Jiménez-Conde J, Fernández-Cadenas I and Vives-Bauzá C.

    Role of PATJ in stroke prognosis by modulating endothelial to mesenchymal transition through the Hippo/Notch/PI3K axis

    Cell Death Discovery . 10(1): 85-85. Number of citations: 2

    [doi:10.1038/s41420-024-01857-z]

  • Blanco G, López-Aventín D, Pujol RM, Gómez-Llonín A, Puiggros A, López-Sánchez M, Estrach T, García-Muret MP, López-Lerma I, Servitje O, Bellosillo B, Muro M, Espinet B, Rabionet-Janssen R and Gallardo F.

    High-throughput RNA sequencing of the T cell receptor alpha and beta chains for simultaneous clonality and biological analyses in Sezary syndrome

    JOURNAL OF CLINICAL LABORATORY ANALYSIS . 37(23-24): .

    [doi:10.1002/jcla.24982]

  • 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. Number of citations: 6

    [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. Number of citations: 1

    [doi:10.20960/RevOsteoporosMetabMiner.00008]

  • Fritz N, Berens S, Dong Y, Martínez C, Schmitteckert S, Houghton LA, Goebel-Stengel M, Wahl V, Kabisch M, Götze D, D'Amato M, Zheng T, Röth R, Mönnikes H, Tesarz J, Engel F, Gauss A, Raithel M, Andresen V, Keller J, Frieling T, Pehl C, Stein-Thöringer C, Clarke G, Kennedy PJ, Cryan JF, Dinan TG, Quigley EMM, Spiller R, Beltrán C, Madrid AM, Torres V, Mayer EA, Sayuk G, Gazouli M, Karamanolis G, Bustamante M, Estivil X, Rabionet-Janssen R, Hoffmann P, Nöthen MM, Heilmann-Heimbach S, Schmidt B, Franke A, Lieb W, Herzog W, Boeckxstaens G, Wouters MM, Simrén M, Rappold GA, Vicario M, Santos J, Schaefert R, Lorenzo-Bermejo J and Niesler B.

    The serotonin receptor 3E variant is a risk factor for female IBS-D

    JOURNAL OF MOLECULAR MEDICINE-JMM . 100(11): 1617-1627. Number of citations: 3

    [doi:10.1007/s00109-022-02244-w]