A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report

por Buena-Atienza, Elena, Nasser, Fadi, Kohl, Susanne, Wissinger, Bernd
Publicado 2018

Efficient hybrid de novo assembly of human genomes with WENGAN

por Di Genova, Alex, Buena-Atienza, Elena, Ossowski, Stephan, Sagot, Marie-France
Publicado 2020

Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson’s study

por Pachchek, Sinthuja, Landoulsi, Zied, Pavelka, Lukas, Schulte, Claudia, Buena-Atienza, Elena, Gross, Caspar, Hauser, Ann-Kathrin, Reddy Bobbili, Dheeraj, Casadei, Nicolas, May, Patrick, Krüger, Rejko
Publicado 2023

Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD G...

por Erbe, Leoni S., Hoffjan, Sabine, Janßen, Sören, Kneifel, Moritz, Krause, Karsten, Gerding, Wanda M., Döring, Kristina, Güttsches, Anne-Katrin, Roos, Andreas, Buena Atienza, Elena, Gross, Caspar, Lücke, Thomas, Nguyen, Hoa Huu Phuc, Vorgerd, Matthias, Köhler, Cornelia
Publicado 2023

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

por Buena-Atienza, Elena, Rüther, Klaus, Baumann, Britta, Bergholz, Richard, Birch, David, De Baere, Elfride, Dollfus, Helene, Greally, Marie T., Gustavsson, Peter, Hamel, Christian P., Heckenlively, John R., Leroy, Bart P., Plomp, Astrid S., Pott, Jan Willem R., Rose, Katherine, Rosenberg, Thomas, Stark, Zornitza, Verheij, Joke B. G. M., Weleber, Richard, Zobor, Ditta, Weisschuh, Nicole, Kohl, Susanne, Wissinger, Bernd
Publicado 2016

The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy

por Wissinger, Bernd, Baumann, Britta, Buena-Atienza, Elena, Ravesh, Zeinab, Cideciyan, Artur V., Stingl, Katarina, Audo, Isabelle, Meunier, Isabelle, Bocquet, Beatrice, Traboulsi, Elias I., Hardcastle, Alison J., Gardner, Jessica C., Michaelides, Michel, Branham, Kari E., Rosenberg, Thomas, Andreasson, Sten, Dollfus, Hélène, Birch, David, Vincent, Andrea L., Martorell, Loreto, Català Mora, Jaume, Kellner, Ulrich, Rüther, Klaus, Lorenz, Birgit, Preising, Markus N., Manfredini, Emanuela, Zarate, Yuri A., Vijzelaar, Raymon, Zrenner, Eberhart, Jacobson, Samuel G., Kohl, Susanne
Publicado 2022