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Publicacions

  • 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.

    [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]

  • 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.

    [doi:10.20960/RevOsteoporosMetabMiner.00008]

  • 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: 1

    [doi:10.1136/jmg-2022-108690]

  • 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.

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

  • Jaworek, T, Xu, HC, Gaynor, BJ, Cole, JW, Rannikmae, K, Stanne, TM, Tomppo, L, Abedi, V, Amouyel, P, Armstrong, ND, Attia, J, Bell, S, Benavente, OR, Boncoraglio, GB, Butterworth, A, Carcel-Marquez, J, Chen, ZM, Chong, M, Cruchaga, C, Cushman, M, Danesh, J, Debette, S, Duggan, DJ, Durda, JP, Engstrom, G, Enzinger, C, Faul, JD, Fecteau, NS, Fernandez-Cadenas, I, Gieger, C, Giese, AK, Grewal, RP, Grittner, U, Havulinna, AS, Heitsch, L, Hochberg, MC, Holliday, E, Hu, J, Ilinca, A, Irvin, MR, Jackson, RD, Jacob, MA, Rabionet-Janssen R, Jimenez-Conde, J, Johnson, JA, Kamatani, Y, Kardia, SLR, Koido, M, Kubo, M, Lange, L, Lee, JM, Lemmens, R, Levi, CR, Li, J, Li, LM, Lin, K, Lopez, H, Luke, S, Maguire, J, McArdle, PF, McDonough, CW, Meschia, JF, Metso, T, Muller-Nurasyid, M, O'Connor, TD, O'Donnell, M, Peddareddygari, LR, Pera, J, Perry, JA, Peters, A, Putaala, J, Ray, D, Rexrode, K, Ribases, M, Rosand, J, Rothwell, PM, Rundek, T, Ryan, KA, Sacco, RL, Salomaa, V, Sanchez-Mora, C, Schmidt, R, Sharma, P, Slowik, A, Smith, JA, Smith, NL, Wassertheil-Smoller, S, Soderholm, M, Stine, OC, Strbian, D, Sudlow, CLM, Tatlisumak, T, Terao, C, Thijs, V, Torres-Aguila, NP, Tregouet, DA, Tuladhar, AM, Veldink, JH, Walters, RG, Weir, DR, Woo, D, Worrall, BB, Hong, CC, Ross, OA, Zand, R, de Leeuw, FE, Lindgren, AG, Pare, G, Anderson, CD, Markus, HS, Jern, C, Malik, R, Dichgans, M, Mitchell, BD and Kittner, SJ.

    Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke

    Neurology . 99(16): 1738-1754. Nº de cites: 4

    [doi:10.1212/WNL.0000000000201006]

  • 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: 1

    [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: 1

    [doi:10.1016/j.bonr.2022.101181]

  • 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: 6

    [doi:10.1111/cge.14113]

  • Domènech L, Willis J, Alemany-Navarro M, Morell M, Real E, Escaramís G, Bertolín S, Sánchez Chinchilla D, Balcells S, Segalàs C, Estivill X, Menchón JM, Gabaldón T, Alonso P and Rabionet-Janssen R.

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

    SCIENTIFIC REPORTS . 12(1): 1448-1448. Nº de cites: 8

    [doi:10.1038/s41598-022-05480-9]