Browsing by Author Santos, Luisa Coutinho
Showing results 1 to 2 of 2
| Issue Date | Title | Author(s) | Type | Access Type |
| 4-Apr-2024 | Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads | Quinodoz, Mathieu; Kaminska, Karolina; Cancellieri, Francesca; Han, Ji Hoon; Peter, Virginie G.; Celik, Elifnaz; Janeschitz-Kriegl, Lucas; Schärer, Nils; Hauenstein, Daniela; György, Bence; Calzetti, Giacomo; Hahaut, Vincent; Custódio, Sónia; Sousa, Ana Cristina; Wada, Yuko; Murakami, Yusuke; Fernández, Almudena Avila; Hernández, Cristina Rodilla; Minguez, Pablo; Ayuso, Carmen; Nishiguchi, Koji M.; Santos, Cristina; Santos, Luisa Coutinho; Tran, Viet H.; Vaclavik, Veronika; Scholl, Hendrik P.N.; Rivolta, Carlo | article |  |
| 5-Sep-2024 | Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression | Malka, Samantha; Biswas, Pooja; Berry, Anne Marie; Sangermano, Riccardo; Ullah, Mukhtar; Lin, Siying; D'Antonio, Matteo; Jestin, Aleksandr; Jiao, Xiaodong; Quinodoz, Mathieu; Sullivan, Lori; Gardner, Jessica C.; Place, Emily M.; Michaelides, Michel; Kaminska, Karolina; Mahroo, Omar A.; Schiff, Elena; Wright, Genevieve; Cancellieri, Francesca; Vaclavik, Veronika; Santos, Cristina; Rehman, Atta Ur; Mehrotra, Sudeep; Azhar Baig, Hafiz Muhammad; Iqbal, Muhammad; Ansar, Muhammad; Santos, Luisa Coutinho; Sousa, Ana Berta; Tran, Viet H.; Matsui, Hiroko; Bhatia, Anjana; Naeem, Muhammad Asif; Akram, Shehla J.; Akram, Javed; Riazuddin, Sheikh; Ayuso, Carmen; Pierce, Eric A.; Hardcastle, Alison J.; Riazuddin, S. Amer; Frazer, Kelly A.; Hejtmancik, J. Fielding; Rivolta, Carlo; Bujakowska, Kinga M.; Arno, Gavin; Webster, Andrew R.; Ayyagari, Radha | article | |
