The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues

by Francesc Muyas, Luis Zapata, Roderic Guigó, Stephan Ossowski
Published 2020-05-01

Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia

by Michaela Pogoda, Franz-Joachim Hilke, Franz-Joachim Hilke, Ebba Lohmann, Ebba Lohmann, Ebba Lohmann, Marc Sturm, Florian Lenz, Jakob Matthes, Francesc Muyas, Francesc Muyas, Francesc Muyas, Stephan Ossowski, Stephan Ossowski, Stephan Ossowski, Alexander Hoischen, Alexander Hoischen, Ulrike Faust, Ilnaz Sepahi, Nicolas Casadei, Nicolas Casadei, Sven Poths, Olaf Riess, Olaf Riess, Christopher Schroeder, Kathrin Grundmann
Published 2019-12-01

Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation.

by Hana Susak, Laura Serra-Saurina, German Demidov, Raquel Rabionet, Laura Domènech, Mattia Bosio, Francesc Muyas, Xavier Estivill, Geòrgia Escaramís, Stephan Ossowski
Published 2021-02-01

The ALT pathway generates telomere fusions that can be detected in the blood of cancer patients

by Francesc Muyas, Manuel José Gómez Rodriguez, Rita Cascão, Angela Afonso, Carolin M. Sauer, Claudia C. Faria, Isidro Cortés-Ciriano, Ignacio Flores
Published 2024-01-01

Profilin 1 deficiency drives mitotic defects and reduces genome stability

by Federica Scotto di Carlo, Sharon Russo, Francesc Muyas, Maria Mangini, Lorenza Garribba, Laura Pazzaglia, Rita Genesio, Flavia Biamonte, Anna Chiara De Luca, Stefano Santaguida, Katia Scotlandi, Isidro Cortés-Ciriano, Fernando Gianfrancesco
Published 2023-01-01

21 Increased mutation burden alone is not sufficient to increase immunogenicity of DNA mismatch repair deficient tumors

by Roderick Bronson, Arjun Bhutkar, Peter MK Westcott, Francesc Muyas, Haley Hauck, Olivia C Smith, Nathan Sacks, Zack Ely, Alex M Jaeger, William Rideout, Daniel D Zhang, Mary Clare Beytagh, David Canner, Santiago Naranjo, Abbey Jin, Justin Patten, Amanda M Cruz, Sean-Luc Shanahan, Isidro Cortes-Ciriano, Tyler Jacks
Published 2023-11-01