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

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

借助首届“未确诊疾病黑客马拉松”,突破罕见病诊断的界限

Delgado-Vega, Angelica Maria; Cederroth, Helene; Taylan, Fulya; Ekholm, Katja; Ek, Marlene; Thonberg, Håkan; Jemt, Anders; Nilsson, Daniel; Eisfeldt, Jesper; Bilgrav Saether, Kristine; Höijer, Ida; Akgun-Dogan, Ozlem; Asano, Yui; Barakat, Tahsin Stefan; Batkovskyte, Dominyka; Baynam, Gareth; Bodamer, Olaf; Chetruengchai, Wanna; Corcoran, Pádraic; Couse, Madeline; Danis, Daniel; Demidov, German; Dohi, Eisuke; Erhardsson, Mattias; Fernandez-Luna, Luis; Fujiwara, Toyofumi; Garg, Neha; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Grigelioniene, Giedre; Groza, Tudor; Gunnarsson, Cecilia; Hammarsjö, Anna; Hammond, Charles Kumi; Hatirnaz Ng, Özden; Hesketh, Sirisha; Hettiarachchi, Dineshani; Johansson Soller, Maria; Kirmani, Umn Ahmed; Kjellberg, Martin; Kvarnung, Malin; Kvlividze, Oleg; Lagerstedt-Robinson, Kristina; Lasko, Paul; Lassmann, Timo; Lau, Lynette Y S; Laurie, Steven; Lim, Weng Khong; Liu, Zhandong; Lysenkova Wiklander, Mariya; Makay, Prince; Maiga, Alassane Baneye; Maya-González, Carolina; Meyn, M Stephen; Neethiraj, Ramprasad; Nigro, Vincenzo; Nordgren, Felix; Nordlund, Jessica; Orrsjö, Sara; Ottosson, Jesper; Ozbek, Ugur; Özdemir, Özkan; Partin, Clyde; Pearce, David A; Peck, Raquel; Pedersen, Annie; Pettersson, Maria; Pongpanich, Monnat; Posada de la Paz, Manuel; Ramani, Arun; Romero, Juan Andres; Romero, Vanessa I; Rosenquist, Richard; Saw, Aung Min; Spencer, Matthew; Stattin, Eva-Lena; Srichomthong, Chalurmpon; Tapia-Paez, Isabel; Taruscio, Domenica; Taylor, Julie P; Tkemaladze, Tinatin; Tully, Ian; Tümer, Zeynep; van Zelst-Stams, Wendy A G; Verloes, Alain; Västerviga, Emma; Wang, Sailan; Yang, Rachel; Yamamoto, Shinya; Yépez, Vicente A; Zhang, Qing; Shotelersuk, Vorasuk; Wiafe, Samuel Agyei; Alanay, Yasemin; Botto, Lorenzo D; Kirmani, Salman; Lumaka, Aimé; Palmer, Elizabeth Emma; Puri, Ratna Dua; Wirta, Valtteri; Lindstrand, Anna; Buske, Orion J; Cederroth, Mikk; Nordgren, Ann

Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps

利用T2T组装解决参考基因组缺口中的罕见和致病性倒位

Bilgrav Saether, Kristine; Eisfeldt, Jesper; Bengtsson, Jesse D; Lun, Ming Yin; Grochowski, Christopher M; Mahmoud, Medhat; Chao, Hsiao-Tuan; Rosenfeld, Jill A; Liu, Pengfei; Ek, Marlene; Schuy, Jakob; Ameur, Adam; Dai, Hongzheng; Hwang, James Paul; Sedlazeck, Fritz J; Bi, Weimin; Marom, Ronit; Wincent, Josephine; Nordgren, Ann; Carvalho, Claudia M B; Lindstrand, Anna

Combining VPS34 inhibitors with STING agonists enhances type I interferon signaling and anti-tumor efficacy

VPS34抑制剂与STING激动剂联用可增强I型干扰素信号传导和抗肿瘤疗效

Yasmin Yu ,Madhumita Bogdan ,Muhammad Zaeem Noman ,Santiago Parpal ,Elisabetta Bartolini ,Kris Van Moer ,Simone Caroline Kleinendorst ,Kristine Bilgrav Saether ,Lionel Trésaugues ,Camilla Silvander ,Johan Lindström ,Jodi Simeon ,Mary Jane Timson ,Hikmat Al-Hashimi ,Bryan D Smith ,Daniel L Flynn ,Andrey Alexeyenko ,Jenny Viklund ,Martin Andersson ,Jessica Martinsson ,Katja Pokrovskaja Tamm ,Angelo De Milito ,Bassam Janji

Detecting transposable elements in long-read genomes using sTELLeR

利用 sTELLeR 检测长读长基因组中的转座元件

Bilgrav Saether, Kristine; Eisfeldt, Jesper

Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions

注意差距:基因组参考序列在解决罕见和致病性倒位中的重要性

Bilgrav Saether, Kristine; Eisfeldt, Jesper; Bengtsson, Jesse; Lun, Ming Yin; Grochowski, Christopher M; Mahmoud, Medhat; Chao, Hsiao-Tuan; Rosenfeld, Jill A; Liu, Pengfei; Schuy, Jakob; Ameur, Adam; Hwang, James Paul; Sedlazeck, Fritz J; Bi, Weimin; Marom, Ronit; Nordgren, Ann; Carvalho, Claudia M B; Lindstrand, Anna

Discovery of non-reference processed pseudogenes in the Swedish population

在瑞典人群中发现非参考加工假基因

Ten Berk de Boer, Esmee; Bilgrav Saether, Kristine; Eisfeldt, Jesper

Transposable element insertions in 1000 Swedish individuals

1000名瑞典人中的转座元件插入

Bilgrav Saether, Kristine; Nilsson, Daniel; Thonberg, Håkan; Tham, Emma; Ameur, Adam; Eisfeldt, Jesper; Lindstrand, Anna