Publications
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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.
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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 . : .
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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.
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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): .
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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
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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: 2
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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: 2
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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. Number of citations: 6
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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. Number of citations: 2
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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. Number of citations: 1