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

Genome sequencing reveals CCDC88A variants in malformations of cortical development and immune dysfunction

基因组测序揭示CCDC88A变异与皮质发育畸形和免疫功能障碍有关

Johanna Lehtonen ,Anna H Hakonen ,Antti Hassinen ,Sanne Iversen Lurås ,Meri Kaustio ,Virpi Glumoff ,Francisca Hinrichsen ,Weiwei Li ,Anna-Maija Sulonen ,Sanna Wickman ,Henrikki Almusa ,Minttu Polso ,Maarit Palomäki ,Sirpa Kivirikko ,Kristiina Avela ,Kaarina Heiskanen ,Vilja Pietiäinen ,Kristiina Aittomäki ,Janna Saarela

Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield

利用连接读长测序技术提供的大型神经肌肉疾病基因的单倍型信息,有望提高诊断率。

Lehtonen, Johanna; Sulonen, Anna-Maija; Almusa, Henrikki; Lehtokari, Vilma-Lotta; Johari, Mridul; Palva, Aino; Hakonen, Anna H; Wartiovaara, Kirmo; Lehesjoki, Anna-Elina; Udd, Bjarne; Wallgren-Pettersson, Carina; Pelin, Katarina; Savarese, Marco; Saarela, Janna

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

遗传风险和细胞介导免疫机制在多发性硬化症中的主要作用

Sawcer, Stephen; Hellenthal, Garrett; Pirinen, Matti; Spencer, Chris C A; Patsopoulos, Nikolaos A; Moutsianas, Loukas; Dilthey, Alexander; Su, Zhan; Freeman, Colin; Hunt, Sarah E; Edkins, Sarah; Gray, Emma; Booth, David R; Potter, Simon C; Goris, An; Band, Gavin; Oturai, Annette Bang; Strange, Amy; Saarela, Janna; Bellenguez, Céline; Fontaine, Bertrand; Gillman, Matthew; Hemmer, Bernhard; Gwilliam, Rhian; Zipp, Frauke; Jayakumar, Alagurevathi; Martin, Roland; Leslie, Stephen; Hawkins, Stanley; Giannoulatou, Eleni; D'alfonso, Sandra; Blackburn, Hannah; Martinelli Boneschi, Filippo; Liddle, Jennifer; Harbo, Hanne F; Perez, Marc L; Spurkland, Anne; Waller, Matthew J; Mycko, Marcin P; Ricketts, Michelle; Comabella, Manuel; Hammond, Naomi; Kockum, Ingrid; McCann, Owen T; Ban, Maria; Whittaker, Pamela; Kemppinen, Anu; Weston, Paul; Hawkins, Clive; Widaa, Sara; Zajicek, John; Dronov, Serge; Robertson, Neil; Bumpstead, Suzannah J; Barcellos, Lisa F; Ravindrarajah, Rathi; Abraham, Roby; Alfredsson, Lars; Ardlie, Kristin; Aubin, Cristin; Baker, Amie; Baker, Katharine; Baranzini, Sergio E; Bergamaschi, Laura; Bergamaschi, Roberto; Bernstein, Allan; Berthele, Achim; Boggild, Mike; Bradfield, Jonathan P; Brassat, David; Broadley, Simon A; Buck, Dorothea; Butzkueven, Helmut; Capra, Ruggero; Carroll, William M; Cavalla, Paola; Celius, Elisabeth G; Cepok, Sabine; Chiavacci, Rosetta; Clerget-Darpoux, Françoise; Clysters, Katleen; Comi, Giancarlo; Cossburn, Mark; Cournu-Rebeix, Isabelle; Cox, Mathew B; Cozen, Wendy; Cree, Bruce A C; Cross, Anne H; Cusi, Daniele; Daly, Mark J; Davis, Emma; de Bakker, Paul I W; Debouverie, Marc; D'hooghe, Marie Beatrice; Dixon, Katherine; Dobosi, Rita; Dubois, Bénédicte; Ellinghaus, David; Elovaara, Irina; Esposito, Federica; Fontenille, Claire; Foote, Simon; Franke, Andre; Galimberti, Daniela; Ghezzi, Angelo; Glessner, Joseph; Gomez, Refujia; Gout, Olivier; Graham, Colin; Grant, Struan F A; Guerini, Franca Rosa; Hakonarson, Hakon; Hall, Per; Hamsten, Anders; Hartung, Hans-Peter; Heard, Rob N; Heath, Simon; Hobart, Jeremy; Hoshi, Muna; Infante-Duarte, Carmen; Ingram, Gillian; Ingram, Wendy; Islam, Talat; Jagodic, Maja; Kabesch, Michael; Kermode, Allan G; Kilpatrick, Trevor J; Kim, Cecilia; Klopp, Norman; Koivisto, Keijo; Larsson, Malin; Lathrop, Mark; Lechner-Scott, Jeannette S; Leone, Maurizio A; Leppä, Virpi; Liljedahl, Ulrika; Bomfim, Izaura Lima; Lincoln, Robin R; Link, Jenny; Liu, Jianjun; Lorentzen, Aslaug R; Lupoli, Sara; Macciardi, Fabio; Mack, Thomas; Marriott, Mark; Martinelli, Vittorio; Mason, Deborah; McCauley, Jacob L; Mentch, Frank; Mero, Inger-Lise; Mihalova, Tania; Montalban, Xavier; Mottershead, John; Myhr, Kjell-Morten; Naldi, Paola; Ollier, William; Page, Alison; Palotie, Aarno; Pelletier, Jean; Piccio, Laura; Pickersgill, Trevor; Piehl, Fredrik; Pobywajlo, Susan; Quach, Hong L; Ramsay, Patricia P; Reunanen, Mauri; Reynolds, Richard; Rioux, John D; Rodegher, Mariaemma; Roesner, Sabine; Rubio, Justin P; Rückert, Ina-Maria; Salvetti, Marco; Salvi, Erika; Santaniello, Adam; Schaefer, Catherine A; Schreiber, Stefan; Schulze, Christian; Scott, Rodney J; Sellebjerg, Finn; Selmaj, Krzysztof W; Sexton, David; Shen, Ling; Simms-Acuna, Brigid; Skidmore, Sheila; Sleiman, Patrick M A; Smestad, Cathrine; Sørensen, Per Soelberg; Søndergaard, Helle Bach; Stankovich, Jim; Strange, Richard C; Sulonen, Anna-Maija; Sundqvist, Emilie; Syvänen, Ann-Christine; Taddeo, Francesca; Taylor, Bruce; Blackwell, Jenefer M; Tienari, Pentti; Bramon, Elvira; Tourbah, Ayman; Brown, Matthew A; Tronczynska, Ewa; Casas, Juan P; Tubridy, Niall; Corvin, Aiden; Vickery, Jane; Jankowski, Janusz; Villoslada, Pablo; Markus, Hugh S; Wang, Kai; Mathew, Christopher G; Wason, James; Palmer, Colin N A; Wichmann, H-Erich; Plomin, Robert; Willoughby, Ernest; Rautanen, Anna; Winkelmann, Juliane; Wittig, Michael; Trembath, Richard C; Yaouanq, Jacqueline; Viswanathan, Ananth C; Zhang, Haitao; Wood, Nicholas W; Zuvich, Rebecca; Deloukas, Panos; Langford, Cordelia; Duncanson, Audrey; Oksenberg, Jorge R; Pericak-Vance, Margaret A; Haines, Jonathan L; Olsson, Tomas; Hillert, Jan; Ivinson, Adrian J; De Jager, Philip L; Peltonen, Leena; Stewart, Graeme J; Hafler, David A; Hauser, Stephen L; McVean, Gil; Donnelly, Peter; Compston, Alastair

Comparison of solution-based exome capture methods for next generation sequencing

基于解决方案的下一代测序外显子组捕获方法比较

Anna-Maija Sulonen, Pekka Ellonen, Henrikki Almusa, Maija Lepistö, Samuli Eldfors, Sari Hannula, Timo Miettinen, Henna Tyynismaa, Perttu Salo, Caroline Heckman, Heikki Joensuu, Taneli Raivio, Anu Suomalainen, Janna Saarela

Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene

针对多发性硬化症高风险人群的全基因组关联研究揭示了STAT3基因的相关变异

Jakkula, Eveliina; Leppä, Virpi; Sulonen, Anna-Maija; Varilo, Teppo; Kallio, Suvi; Kemppinen, Anu; Purcell, Shaun; Koivisto, Keijo; Tienari, Pentti; Sumelahti, Marja-Liisa; Elovaara, Irina; Pirttilä, Tuula; Reunanen, Mauri; Aromaa, Arpo; Oturai, Annette Bang; Søndergaard, Helle Bach; Harbo, Hanne F; Mero, Inger-Lise; Gabriel, Stacey B; Mirel, Daniel B; Hauser, Stephen L; Kappos, Ludwig; Polman, Chris; De Jager, Philip L; Hafler, David A; Daly, Mark J; Palotie, Aarno; Saarela, Janna; Peltonen, Leena

No evidence for shared etiology in two demyelinative disorders, MS and PLOSL

没有证据表明两种脱髓鞘疾病(MS 和 PLOSL)具有共同的病因。

Sulonen, Anna-Maija; Kallio, Suvi P; Ellonen, Pekka; Suvela, Minna; Elovaara, Irina; Koivisto, Keijo; Pirttilä, Tuula; Reunanen, Mauri; Tienari, Pentti J; Palotie, Aarno; Peltonen, Leena; Saarela, Janna