日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

VACmap: an accurate long-read aligner for unraveling complex genomic rearrangements

VACmap:一种用于解析复杂基因组重排的精确长读比对工具

Ding, Hongyu; Sedlazeck, Fritz J; Proukakis, Christos; Morley, Caoimhe; Toffoli, Marco; Schapira, Anthony Hv; Liao, Zhirui; Pu, Lianrong; Zhu, Shanfeng

Scalable and comprehensive mosaic variant calling using DRAGEN

使用 DRAGEN 进行可扩展且全面的嵌合变异检测

Behera, Sairam; Rossi, Massimiliano; Wang, Yina; Izydorczyk, Michal B; Tran, Duke; Dalgard, Clifton L; Kalef-Ezra, Ester; Kottapalli, Kavya; Mehta, Heer; Parnaby, Gavin; Risse-Adams, Oona Shigeno; Scholz, Sonja W; Shen, Helen; Nelson, Theodore M; Visvanath, Arun; Zheng, Xinchang; Doddapaneni, Harsha; Garcia, Thomas; Mason, Christopher E; Proukakis, Christos; Han, James; Mehio, Rami; Catreux, Severine; Sedlazeck, Fritz J

Detection of mosaic and population-level structural variants with Sniffles2

使用 Sniffles2 检测马赛克和群体水平的结构变异

Moritz Smolka #, Luis F Paulin #, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Claudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck3

Genome sequence analyses identify novel risk loci for multiple system atrophy

基因组序列分析发现了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, François; Pavy-Le Traon, Anne; Pellecchia, Maria Teresa; Barone, Paolo; Russillo, Maria Claudia; Marín-Lahoz, Juan; Kulisevsky, Jaime; Torres, Soraya; Mir, Pablo; Periñán, 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; Sánchez-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; Chiò, 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

Complex mosaic structural variations in human fetal brains

人类胎儿大脑中复杂的马赛克结构变异

Shobana Sekar, Livia Tomasini, Christos Proukakis, Taejeong Bae, Logan Manlove, Yeongjun Jang, Soraya Scuderi, Bo Zhou, Maria Kalyva, Anahita Amiri, Jessica Mariani, Fritz J Sedlazeck, Alexander E Urban, Flora M Vaccarino, Alexej Abyzov

Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing

利用靶向SNCA分析和单细胞测序技术研究突触核蛋白病患者脑组织中的体细胞拷贝数变异(CNV)。

Diego Perez-Rodriguez,Maria Kalyva,Melissa Leija-Salazar,Tammaryn Lashley,Maxime Tarabichi,Viorica Chelban,Steve Gentleman,Lucia Schottlaender,Hannah Franklin,George Vasmatzis,Henry Houlden,Anthony H V Schapira,Thomas T Warner,Janice L Holton,Zane Jaunmuktane,Christos Proukakis

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; Lango Allen, Hana; Wakeling, Matthew; Chilton, John K; Baple, Emma L; Louis, Elan D; Warner, Thomas T; Crosby, Andrew H

α-Synuclein structural features inhibit harmful polyunsaturated fatty acid oxidation, suggesting roles in neuroprotection.

α-突触核蛋白的结构特征抑制有害的多不饱和脂肪酸氧化,表明其在神经保护中发挥作用

De Franceschi Giorgia, Fecchio Chiara, Sharon Ronit, Schapira Anthony H V, Proukakis Christos, Bellotti Vittorio, de Laureto Patrizia Polverino

DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation

DNA分离方案对微阵列、液滴数字PCR和全基因组测序等核DNA分析以及线粒体DNA拷贝数估计的影响

Elizabeth Nacheva ,Katya Mokretar ,Aynur Soenmez ,Alan M Pittman ,Colin Grace ,Roberto Valli ,Ayesha Ejaz ,Selina Vattathil ,Emanuela Maserati ,Henry Houlden ,Jan-Willem Taanman ,Anthony H Schapira ,Christos Proukakis

Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort

GBA基因突变阳性人群中帕金森病前驱临床标志物的演变

Beavan, Michelle; McNeill, Alisdair; Proukakis, Christos; Hughes, Derralynn A; Mehta, Atul; Schapira, Anthony H V