Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin‐Related Parkinson's Disease
Papagiannakis, Nikolaos, Liu, Hui, Koros, Christos, Simitsi, Athina‐Maria, Stamelou, Maria, Maniati, Matina, Buena‐Atienza, Elena, Kartanou, Chrysoula, Karadima, Georgia, Makrythanasis, Periklis, Vatsellas, Giannis, Valente, Enza Maria, Gasser, Thomas, Stefanis, Leonidas
Published in Movement disorders (01.04.2024)
Published in Movement disorders (01.04.2024)
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Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene
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
Published in International journal of molecular sciences (01.10.2023)
Published in International journal of molecular sciences (01.10.2023)
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Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects
Wissinger, Bernd, Baumann, Britta, Buena-Atienza, Elena, Gross, Caspar, Kohl, Susanne
Published in Npj genomic medicine (04.05.2024)
Published in Npj genomic medicine (04.05.2024)
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De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy
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
Published in Scientific reports (24.06.2016)
Published in Scientific reports (24.06.2016)
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Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study
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
Published in NPJ Parkinson's Disease (23.11.2023)
Published in NPJ Parkinson's Disease (23.11.2023)
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Journal Article
Author Correction: Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study
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
Published in NPJ Parkinson's Disease (18.12.2023)
Published in NPJ Parkinson's Disease (18.12.2023)
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Splicing mutations in inherited retinal diseases
Weisschuh, Nicole, Buena-Atienza, Elena, Wissinger, Bernd
Published in Progress in retinal and eye research (01.01.2021)
Published in Progress in retinal and eye research (01.01.2021)
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Efficient hybrid de novo assembly of human genomes with WENGAN
Di Genova, Alex, Buena-Atienza, Elena, Ossowski, Stephan, Sagot, Marie-France
Published in Nature biotechnology (01.04.2021)
Published in Nature biotechnology (01.04.2021)
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A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy
Figueroa, Karla P, Gross, Caspar, Buena-Atienza, Elena, Paul, Sharan, Gandelman, Mandi, Kakar, Naseebullah, Sturm, Marc, Casadei, Nicolas, Admard, Jakob, Park, Joohyun, Zühlke, Christine, Hellenbroich, Yorck, Pozojevic, Jelena, Balachandran, Saranya, Händler, Kristian, Zittel, Simone, Timmann, Dagmar, Erdlenbruch, Friedrich, Herrmann, Laura, Feindt, Thomas, Zenker, Martin, Klopstock, Thomas, Dufke, Claudia, Scoles, Daniel R, Koeppen, Arnulf, Spielmann, Malte, Riess, Olaf, Ossowski, Stephan, Haack, Tobias B, Pulst, Stefan M
Published in Nature genetics (01.06.2024)
Published in Nature genetics (01.06.2024)
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Abstract 1329: Identifying low allele frequency somatic variants using the Saphyr System
Lee, Joyce, PANG, Andy Wing Chun, Groß, Caspar, Admard, Jakob, Buena-Atienza, Elena, Ossowski, Stephan, Anantharaman, Thomas, Oldakowski, Mark, Bocklandt, Sven, Hastie, Alex
Published in Cancer research (Chicago, Ill.) (15.08.2020)
Published in Cancer research (Chicago, Ill.) (15.08.2020)
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Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the IDMD/I Gene
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
Published in International journal of molecular sciences (01.09.2023)
Published in International journal of molecular sciences (01.09.2023)
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Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1
Herrmann, Laura, Gelderblom, Mathias, Bester, Maxim, Deininger, Natalie, Schütze, Thorsten, Hidding, Ute, Gross, Caspar, Buena-Atienza, Elena, Dufke, Claudia, Gerloff, Christian, Haack, Tobias B., Zittel, Simone
Published in Parkinsonism & related disorders (01.02.2022)
Published in Parkinsonism & related disorders (01.02.2022)
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The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
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
Published in Proceedings of the National Academy of Sciences - PNAS (05.07.2022)
Published in Proceedings of the National Academy of Sciences - PNAS (05.07.2022)
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Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype
Sothilingam, Vithiyanjali, Garcia Garrido, Marina, Jiao, Kangwei, Buena-Atienza, Elena, Sahaboglu, Ayse, Trifunović, Dragana, Balendran, Sukirthini, Koepfli, Tanja, Mühlfriedel, Regine, Schön, Christian, Biel, Martin, Heckmann, Angelique, Beck, Susanne C, Michalakis, Stylianos, Wissinger, Bernd, Seeliger, Mathias W, Paquet-Durand, François
Published in Human molecular genetics (01.10.2015)
Published in Human molecular genetics (01.10.2015)
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METHOD FOR MAKING A GENETIC DETERMINATION BASED ON A HAIR ROOT SAMPLE
BUENA ATIENZA, Elena, OSSOWSKI, Stephan, LIEBAU, Stefan, ACHBERGER, Kevin, GROSS, Caspar, ADMARD, Jakob
Year of Publication 02.11.2023
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Year of Publication 02.11.2023
Patent
METHOD FOR MAKING A GENETIC DETERMINATION BASED ON A HAIR ROOT SAMPLE
Liebau, Stefan, Achberger, Kevin, Buena Atienza, Elena, Admard, Jakob, Ossowski, Stephan, Gross, Caspar
Year of Publication 01.11.2023
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Year of Publication 01.11.2023
Patent