Persones / Equip Humà

Raquel Rabionet Janssen

Buscador de publicacions

Publicacions

  • 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. Nº de cites: 8

    [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]

  • 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. Nº de cites: 9

    [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: 30

    [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: 3

    [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: 6

    [doi:10.1016/j.bonr.2022.101181]

  • Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, 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 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: 13

    [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: 33

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

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

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

    Genes . 13(1): . Nº de cites: 8

    [doi:10.3390/genes13010146]