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2024
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads
American Journal of Human Genetics
Mathieu Quinodoz, Karolina Kaminska, Francesca Cancellieri, Ji Hoon Han, Virginie G Peter, Elifnaz Celik, Lucas Janeschitz-Kriegl, Nils Schärer, Daniela Hauenstein, Bence György, Giacomo Calzetti, Vincent Hahaut, Sónia Custódio, Ana Cristina Sousa, Yuko Wada, Yusuke Murakami, Almudena Avila Fernández, Cristina Rodilla Hernández, Pablo Minguez, Carmen Ayuso, Koji M Nishiguchi, Cristina Santos, Luisa Coutinho Santos, Viet H Tran, Veronika Vaclavik, Hendrik P N Scholl, Carlo Rivolta
2022
CRISPR-Cas9 treatment partially restores amyloid-b 42/40 in human fibroblasts with the Alzheimer’s disease PSEN1 M146L mutation
Molecular Therapy - Nucleic Acids
Rare occult macular dystrophy with a pathogenic variant in the RP1L1 gene in a patient of Swiss descent
American Journal of Ophthalmology Case Reports
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