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| Issue Date | Title | Author(s) |
|---|---|---|
| 2022 | Genetic analysis in a familial case with high bone mineral density suggests additive effects at two loci | Martínez-Gil, Núria; Ovejero, Diana; Garcia Giralt, Natàlia; Bruque, Carlos David; Mellibovsky, Leonardo; Nogués, Xavier; Rabionet Janssen, Raquel; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 7-Sep-2022 | Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2 | Castilla-Vallmanya, Laura; Centeno-Pla, Mónica; Serrano, Mercedes; Franco-Valls, Héctor; Martínez-Cabrera, Raúl; Prat-Planas, Aina; Rojano, Elena; Ranea, Juan A G; Seoane, Pedro; Oliva, Clara; Paredes-Fuentes, Abraham J; Marfany i Nadal, Gemma; Artuch, Rafael; Grinberg Vaisman, Daniel Raúl; Rabionet Janssen, Raquel; Balcells Comas, Susana; Urreizti, Roser |
| Jun-2022 | On the association between Chiari malformation type 1, bone mineral density and bone related genes | Martínez-Gil, Núria; Mellibovsky, Leonardo; Manzano-López González, Demián.; Patiño, Juan David; Cozar, Mónica; Rabionet Janssen, Raquel; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 10-Jun-2018 | The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz syndrome | Urreizti, Roser; Gürsoy, Semra; Castilla-Vallmanya, Laura; Cunill, Guillem; Rabionet Janssen, Raquel; Erçal, Derya; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 9-Jul-2021 | Functional Analyses of four CYP1A1 missense mutations present in patients with atypical femoral fractures | Ugartondo Asensio, Nerea; Martínez-Gil, Núria; Esteve, Mònica; Garcia Giralt, Natàlia; Roca Ayats, Neus; Ovejero, Diana; Nogués Solán, Xavier; Díez Pérez, Adolfo; Rabionet Janssen, Raquel; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 27-Jan-2022 | Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder | Domènech, Laura; Willis, Jesse; Alemany-Navarro, Maria; Morey i Ramonell, Marta; Real, Eva; Escaramís Babiano, Geòrgia; Bertolín, Sara; Sánchez Chinchilla, Daniel; Balcells Comas, Susana; Segalàs Cosi, Cinto; Estivill, Xavier, 1955-; Menchón Magriñá, José Manuel; Gabaldón, Toni; Alonso Ortega, María del Pino; Rabionet Janssen, Raquel |
| May-2022 | Systematic collaborative reanalysis of genomic data improves diagnostic yield in neurologic rare diseases | Bullich, Gemma; Matalonga, Leslie; Pujadas, Montserrat; Papakonstantinou, Anastasios; Piscia, Davide; Tonda, Raúl; Artuch, Rafael; Gallano, Pia; Garrabou Tornos, Glòria; González, Juan R.; Grinberg Vaisman, Daniel Raúl; Guitart, Míriam; Laurie, Steven; Lázaro, Conxi; Luengo, Critina; Martí, Ramon; Milà, Montserrat; Ovelleiro, David; Parra, Genís; Pujol, Aurora; Tizzano, Eduardo; Macaya, Alfonso; Palau, Francesc; Ribes, Antonio; Pérez-Jurado, Luis A.; Beltran, Sergi; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium.; Rabionet Janssen, Raquel; Balcells Comas, Susana |
| 1-Jan-2022 | Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment | Garcia Giralt, Natàlia; Roca Ayats, Neus; Abril Ferrando, Josep Francesc, 1970-; Martínez-Gil, Núria; Ovejero, Diana; Castañeda, Santos; Nogués Solán, Xavier; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Rabionet Janssen, Raquel |
| 7-May-2020 | Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 | Castilla-Vallmanya, Laura; Selmer, Kaja K.; Dimartino, Clémantine; Rabionet Janssen, Raquel; Blanco-Sánchez, Bernardo; Yang, Sandra; Reijnders, Margot R.F.; van Essen, Antoine J.; Oufadem, Myriam; Vigeland, Magnus D.; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, J effrey W.; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K.; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M.; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Urreizti, Roser |
| 4-Feb-2021 | De Novo PORCN and ZIC2 mutations in a highly consanguineous family | Castilla Vallmanya, Laura; Gürsoy, Semra; Giray Bozkaya, Özlem; Prat Planas, Aina; Bullich, Gemma; Matalonga Borrel, Lesley; Centeno Pla, Mónica; Rabionet Janssen, Raquel; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Urreizti, Roser |
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