Browsing by Author Bosio, Mattia
Showing results 1 to 5 of 5
| 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 |
| Feb-2019 | Differential expression of long non-coding RNAs are related to proliferation and histological diversity in follicular lymphomas | Roisman, Alejandro; Castellano, Giancarlo; Navarro, Alba; González Farré, Blanca; Pérez Galán, Patricia; Esteve Codina, Anna; Dabad, Marc; Heath, Simon C.; Gut, Marta; Bosio, Mattia; Bellot, Pau; Salembier, Philippe; Oliveras, Alberto; Slavutsky, Irma; Magnano, Laura; Horn, Heike; Rosenwald, Andreas; Ott, German; Aymerich Gregorio, Marta; López Guillermo, Armando; Jares Gerboles, Pedro; Martín-Subero, José Ignacio; Campo Güerri, Elias; Hernández, Luis |
| 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 |