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Single-cell somatic copy number variants in brain using different amplification methods and reference genomes 使用不同扩增方法和参考基因组的大脑中单细胞体细胞拷贝数变异 Kalef-Ezra, Ester; Turan, Zeliha Gozde; Perez-Rodriguez, Diego; Bomann, Ida; Behera, Sairam; Morley, Caoimhe; Scholz, Sonja W.; Jaunmuktane, Zane; Demeulemeester, Jonas; Sedlazeck, Fritz J.; Proukakis, Christos 分享 收藏
Genome sequence analyses identify novel risk loci for multiple system atrophy 基因组序列分析确定多系统萎缩的新风险位点 Chia, Ruth; Ray, Anindita; Shah, Zalak; Ding, Jinhui; Ruffo, Paola; Fujita, Masashi; Menon, Vilas; Saez-Atienzar, Sara; Reho, Paolo; Kaivola, Karri; Walton, Ronald L.; Reynolds, Regina H.; Karra, Ramita; Sait, Shaimaa; Akcimen, Fulya; Diez-Fairen, Monica; Alvarez, Ignacio; Fanciulli, Alessandra; Stefanova, Nadia; Seppi, Klaus; Duerr, Susanne; Leys, Fabian; Krismer, Florian; Sidoroff, Victoria; Zimprich, Alexander; Pirker, Walter; Rascol, Olivier; Foubert-Samier, Alexandra; Meissner, Wassilios G.; Tison, FrancOis; Pavy-Le Traon, Anne; Pellecchia, Maria Teresa; Barone, Paolo; Russillo, Maria Claudia; Marin-Lahoz, Juan; Kulisevsky, Jaime; Torres, Soraya; Mir, Pablo; Perinan, Maria Teresa; Proukakis, Christos; Chelban, Viorica; Wu, Lesley; Goh, Yee Y.; Parkkinen, Laura; Hu, Michele T.; Kobylecki, Christopher; Saxon, Jennifer A.; Rollinson, Sara; Garland, Emily; Biaggioni, Italo; Litvan, Irene; Rubio, Ileana; Alcalay, Roy N.; Kwei, Kimberly T.; Lubbe, Steven J.; Mao, Qinwen; Flanagan, Margaret E.; Castellani, Rudolph J.; Khurana, Vikram; Ndayisaba, Alain; Calvo, Andrea; Mora, Gabriele; Canosa, Antonio; Floris, Gianluca; Bohannan, Ryan C.; Moore, Anni; Norcliffe-Kaufmann, Lucy; Palma, Jose-Alberto; Kaufmann, Horacio; Kim, Changyoun; Iba, Michiyo; Masliah, Eliezer; Dawson, Ted M.; Rosenthal, Liana S.; Pantelyat, Alexander; Albert, Marilyn S.; Pletnikova, Olga; Troncoso, Juan C.; Infante, Jon; Lage, Carmen; Sanchez-Juan, Pascual; Serrano, Geidy E.; Beach, Thomas G.; Pastor, Pau; Morris, Huw R.; Albani, Diego; Clarimon, Jordi; Wenning, Gregor K.; Hardy, John A.; Ryten, Mina; Topol, Eric; Torkamani, Ali; Chio, Adriano; Bennett, David A.; De Jager, Philip L.; Low, Philip A.; Singer, Wolfgang; Cheshire, William P.; Wszolek, Zbigniew K.; Dickson, Dennis W.; Traynor, Bryan J.; Gibbs, J. Raphael; Dalgard, Clifton L.; Ross, Owen A.; Houlden, Henry; Scholz, Sonja W. 分享 收藏
Detection of mosaic and population-level structural variants with Sniffles2 用Sniffles2检测镶嵌和种群水平的结构变异 Smolka, Moritz; Paulin, Luis F.; Grochowski, Christopher M.; Horner, Dominic W.; Mahmoud, Medhat; Behera, Sairam; Kalef-Ezra, Ester; Gandhi, Mira; Hong, Karl; Pehlivan, Davut; Scholz, Sonja W.; Carvalho, Claudia M. B.; Proukakis, Christos; Sedlazeck, Fritz J. 分享 收藏
Phenotypic effect of GBA1 variants in individuals with and without Parkinson's disease: The RAPSODI study Toffoli, Marco; Chohan, Harneek; Mullin, Stephen; Jesuthasan, Aaron; Yalkic, Selen; Koletsi, Sofia; Menozzi, Elisa; Rahall, Soraya; Limbachiya, Naomi; Loefflad, Nadine; Higgins, Abigail; Bestwick, Jonathan; Lucas-Del-Pozo, Sara; Fierli, Federico; Farbos, Audrey; Mezabrovschi, Roxana; Lee-Yin, Chiao; Schrag, Anette; Moreno-Martinez, David; Hughes, Derralynn; Noyce, Alastair; Colclough, Kevin; Jeffries, Aaron R.; Proukakis, Christos; Schapira, Anthony H. V. 分享 收藏
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Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson's disease-associated GBA gene Toffoli, Marco; Chen, Xiao; Sedlazeck, Fritz J.; Lee, Chiao-Yin; Mullin, Stephen; Higgins, Abigail; Koletsi, Sofia; Garcia-Segura, Monica Emili; Sammler, Esther; Scholz, Sonja W.; Schapira, Anthony H. V.; Eberle, Michael A.; Proukakis, Christos 分享 收藏
CAG Somatic Instability in a Huntington Disease Expansion Carrier Presenting with a Progressive Supranuclear Palsy-like Phenotype 表现为进行性核上性麻痹样表型的亨廷顿病扩展携带者中的CAG躯体不稳定性 Dewan, Ramita; Jaunmuktane, Zane; Garcia-Segura, Monica Emili; Strand, Catherine; Wild, Edward; Villar, Joaquin; Dalgard, Clifton L.; Tabrizi, Sarah J.; Traynor, Bryan J.; Proukakis, Christos 分享 收藏
Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease Toffoli, Marco; Higgins, Abigail; Lee, Chiao; Koletsi, Sofia; Chen, Xiao; Eberle, Michael; Sedlazeck, Fritz J.; Mullin, Stephen; Proukakis, Christos; Schapira, Anthony H., V 分享 收藏
Complex mosaic structural variations in human fetal brains Sekar, Shobana; Tomasini, Livia; Proukakis, Christos; Bae, Taejeong; Manlove, Logan; Jang, Yeongjun; Scuderi, Soraya; Zhou, Bo; Kalyva, Maria; Amiri, Anahita; Mariani, Jessica; Sedlazeck, Fritz J.; Urban, Alexander E.; Vaccarino, Flora M.; Abyzov, Alexej 分享 收藏
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Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing Perez-Rodriguez, Diego; Kalyva, Maria; Leija-Salazar, Melissa; Lashley, Tammaryn; Tarabichi, Maxime; Chelban, Viorica; Gentleman, Steve; Schottlaender, Lucia; Franklin, Hannah; Vasmatzis, George; Houlden, Henry; Schapira, Anthony H. V.; Warner, Thomas T.; Holton, Janice L.; Jaunmuktane, Zane; Proukakis, Christos 分享 收藏
Evolution and clustering of prodromal parkinsonian features in GBA1 carriers Mullin, Stephen; Beavan, Michelle; Bestwick, Jonathan; McNeill, Alisdair; Proukakis, Christos; Cox, Timothy; Hughes, Derralynn; Mehta, Atul; Zetterberg, Henrik; Schapira, Anthony H. V. 分享 收藏
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Copy number variation of LINGO1 in familial dystonic tremor 家族性肌张力障碍性震颤中LINGO1的拷贝数变异 Alakbarzade, Vafa; Iype, Thomas; Chioza, Barry A.; Singh, Royana; Harlalka, Gaurav V.; Hardy, Holly; Sreekantan-Nair, Ajith; Proukakis, Christos; Peall, Kathryn; Clark, Lorraine N.; Caswell, Richard; Allen, Hana Lango; Wakeling, Matthew; Chilton, John K.; Baple, Emma L.; Louis, Elan D.; Warner, Thomas T.; Crosby, Andrew H. 分享 收藏
Somatic copy number gains of α-synuclein (SNCA) in Parkinson's disease and multiple system atrophy brains 帕金森氏病和多系统萎缩脑中 α-突触核蛋白 (SNCA) 的体细胞拷贝数增加 Mokretar, Katya; Pease, Daniel; Taanman, Jan-Willem; Soenmez, Aynur; Ejaz, Ayesha; Lashley, Tammaryn; Ling, Helen; Gentleman, Steve; Houlden, Henry; Holton, Janice L.; Schapira, Anthony H. V.; Nacheva, Elizabeth; Proukakis, Christos 分享 收藏
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