Browsing by Author Ossowski, Stephan
Showing results 1 to 7 of 7
| Issue Date | Title | Author(s) |
|---|---|---|
| 10-Mar-2017 | A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: Similarities between Schaaf-Yang and Opitz-C syndromes | Urreizti, Roser; Cueto Gonzalez, Anna Maria; Franco Valls, Héctor; Mort Farre, Sílvia; Roca Ayats, Neus; Ponomarenko, Julia; Cozzuto, Luca; Company, Carlos; Bosio, Mattia; Ossowski, Stephan; Montfort Roca, Magda; Hecht, Jochen; Tizzano Ferrari, Eduardo; Cormand Rifà, Bru; Vilageliu i Arqués, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 24-Oct-2018 | Allele balance bias identifies systematic genotyping errors and false disease associations | Muyas, Francesc; Bosio, Mattia; Puig, Anna; Susak, Hana; Domènech, Laura; Escaramís Babiano, Geòrgia; Zapata, Luis; Demidov, German; Estivill, Xavier, 1955-; Rabionet Janssen, Raquel; Ossowski, Stephan |
| 14-Mar-2019 | Biallelic loss-of-function LACC1/FAMIN mutations presenting as rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | Rabionet Janssen, Raquel; Remesal, Agustín; Mensa-Vilaró, Anna; Murías, Sara; Alcobendas, Rosa; González-Roca, Eva; Ruiz Ortiz, Estíbaliz; Antón, Jordi; Iglesias Jiménez, Estíbaliz; Modesto, Consuelo; Comas, David; Puig, Anna; Drechsel, Oliver; Ossowski, Stephan; Yagüe, Jordi; Merino, Rosa; Estivill, Xavier, 1955-; Aróstegui Gorospe, Juan Ignacio |
| 26-Apr-2019 | eDiVA - Classification and prioritization of pathogenic variants for clinical diagnostics | Bosio, Mattia; Drechsel, Oliver; Rahman, Rubayte; Muyas, Francesc; Rabionet Janssen, Raquel; Bezdan, Daniela; Domenech Salgado, Laura; Hor, Hyun G.; Schott, Jean-Jacques; Munell Casadesús, Francina; Colobran, Roger; Macaya Ruiz, Alfons; Estivill, Xavier, 1955-; Ossowski, Stephan |
| 19-Feb-2021 | Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation | Susak, Hana; Serra-Saurina, Laura; Demidov, German; Rabionet Janssen, Raquel; Domènech, Laura; Bosio, Mattia; Muyas, Francesc; Estivill, Xavier, 1955-; Escaramís Babiano, Geòrgia; Ossowski, Stephan |
| 5-May-2021 | Environmental Enrichment Induces Epigenomic and Genome Organization Changes Relevant for Cognition | Espeso Gil, Sergio; Holik, Aliaksei Z.; Bonnin, Sarah; Jhanwar, Shalu; Chandrasekaran, Sandhya; Pique Regi, Roger; Albaigès, Júlia; Maher, Michael; Permanyer, Jon; Irimia, Manuel; Friedländer, Marc R.; Pons Espinal, Meritxell; Akbarian, Schahram; Dierssen, Mara; Maass, Philipp; Hor, Charlotte N.; Ossowski, Stephan |
| Jul-2016 | Identification of gene mutations and fusion genes in patients with Sézary Syndrome | Prasad, Aparna; Rabionet Janssen, Raquel; Espinet Solà, Blanca; Zapata, Luis; Puiggros Metje, Anna M.; Melero, Carme; Puig, Anna; Sarria Trujillo, Yaris; Ossowski, Stephan; Garcia-Muret, Maria P.; Estrach Panella, Ma. Teresa (María Teresa); Servitje Bedate, Octavio; Lopez Lerma, Ingrid; Gallardo, Fernando; Pujol, Ramon M.; Estivill, Xavier, 1955- |