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

A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome

一种经济高效的基因测序方法,结合了高深度全外显子组测序和低深度全基因组测序,适用于基因研究。

Bhérer, Claude; Eveleigh, Robert; Trajanoska, Katerina; St-Cyr, Janick; Paccard, Antoine; Nadukkalam Ravindran, Praveen; Caron, Elizabeth; Bader Asbah, Nimara; McClelland, Peyton; Wei, Clare; Baumgartner, Iris; Schindewolf, Marc; Döring, Yvonne; Perley, Danielle; Lefebvre, François; Lepage, Pierre; Bourgey, Mathieu; Bourque, Guillaume; Ragoussis, Jiannis; Mooser, Vincent; Taliun, Daniel

Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19

I型干扰素免疫基因中罕见的失活变异与重症COVID-19无关。

Povysil, Gundula; Butler-Laporte, Guillaume; Shang, Ning; Wang, Chen; Khan, Atlas; Alaamery, Manal; Nakanishi, Tomoko; Zhou, Sirui; Forgetta, Vincenzo; Eveleigh, Robert Jm; Bourgey, Mathieu; Aziz, Naveed; Jones, Steven Jm; Knoppers, Bartha; Scherer, Stephen W; Strug, Lisa J; Lepage, Pierre; Ragoussis, Jiannis; Bourque, Guillaume; Alghamdi, Jahad; Aljawini, Nora; Albes, Nour; Al-Afghani, Hani M; Alghamdi, Bader; Almutairi, Mansour S; Mahmoud, Ebrahim Sabri; Abu-Safieh, Leen; El Bardisy, Hadeel; Harthi, Fawz S Al; Alshareef, Abdulraheem; Suliman, Bandar Ali; Alqahtani, Saleh A; Almalik, Abdulaziz; Alrashed, May M; Massadeh, Salam; Mooser, Vincent; Lathrop, Mark; Fawzy, Mohamed; Arabi, Yaseen M; Mbarek, Hamdi; Saad, Chadi; Al-Muftah, Wadha; Jung, Junghyun; Mangul, Serghei; Badji, Radja; Thani, Asma Al; Ismail, Said I; Gharavi, Ali G; Abedalthagafi, Malak S; Richards, J Brent; Goldstein, David B; Kiryluk, Krzysztof

A small number of early introductions seeded widespread transmission of SARS-CoV-2 in Québec, Canada

少数早期病例的引入导致了SARS-CoV-2在加拿大魁北克省的广泛传播。

Murall, Carmen Lía; Fournier, Eric; Galvez, Jose Hector; N'Guessan, Arnaud; Reiling, Sarah J; Quirion, Pierre-Olivier; Naderi, Sana; Roy, Anne-Marie; Chen, Shu-Huang; Stretenowich, Paul; Bourgey, Mathieu; Bujold, David; Gregoire, Romain; Lepage, Pierre; St-Cyr, Janick; Willet, Patrick; Dion, Réjean; Charest, Hugues; Lathrop, Mark; Roger, Michel; Bourque, Guillaume; Ragoussis, Jiannis; Shapiro, B Jesse; Moreira, Sandrine

Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19

未能重复验证I型干扰素免疫基因中罕见功能缺失变异与重症COVID-19之间的关联

Povysil, Gundula; Butler-Laporte, Guillaume; Shang, Ning; Weng, Chen; Khan, Atlas; Alaamery, Manal; Nakanishi, Tomoko; Zhou, Sirui; Forgetta, Vincenzo; Eveleigh, Robert; Bourgey, Mathieu; Aziz, Naveed; Jones, Steven; Knoppers, Bartha; Scherer, Stephen; Strug, Lisa; Lepage, Pierre; Ragoussis, Jiannis; Bourque, Guillaume; Alghamdi, Jahad; Aljawini, Nora; Albes, Nour; Al-Afghani, Hani M; Alghamdi, Bader; Almutair, Mansour; Mahmoud, Ebrahim Sabri; Safie, Leen Abu; Bardisy, Hadeel El; Al Harthi, Fawz S; Alshareef, Abdulraheem; Suliman, Bandar Ali; Alqahtani, Saleh; AlMalik, Abdulaziz; Alrashed, May M; Massadeh, Salam; Mooser, Vincent; Lathrop, Mark; Arabi, Yaseen; Mbarek, Hamdi; Saad, Chadi; Al-Muftah, Wadha; Badji, Radja; Al Thani, Asma; Ismail, Said I; Gharavi, Ali G; Abedalthagafi, Malak S; Richards, J Brent; Goldstein, David B; Kiryluk, Krzysztof

Genetic profiles of ten Dirofilaria immitis isolates susceptible or resistant to macrocyclic lactone heartworm preventives

对十株犬恶丝虫分离株的基因谱分析,这些分离株对大环内酯类犬恶丝虫预防药物具有敏感性或耐药性。

Bourguinat, Catherine; Keller, Kathy; Xia, Jianguo; Lepage, Pierre; McTier, Tom L; Woods, Debra J; Prichard, Roger K

Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations

垂体母细胞瘤:生殖系DICER1突变的特征性病理表现

de Kock, Leanne; Sabbaghian, Nelly; Plourde, François; Srivastava, Archana; Weber, Evan; Bouron-Dal Soglio, Dorothée; Hamel, Nancy; Choi, Joon Hyuk; Park, Sung-Hye; Deal, Cheri L; Kelsey, Megan M; Dishop, Megan K; Esbenshade, Adam; Kuttesch, John F; Jacques, Thomas S; Perry, Arie; Leichter, Heinz; Maeder, Philippe; Brundler, Marie-Anne; Warner, Justin; Neal, James; Zacharin, Margaret; Korbonits, Márta; Cole, Trevor; Traunecker, Heidi; McLean, Thomas W; Rotondo, Fabio; Lepage, Pierre; Albrecht, Steffen; Horvath, Eva; Kovacs, Kalman; Priest, John R; Foulkes, William D

Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas

SETD2基因突变和影响组蛋白H3K36甲基化的基因突变是半球高级别胶质瘤的靶点。

Fontebasso, Adam M; Schwartzentruber, Jeremy; Khuong-Quang, Dong-Anh; Liu, Xiao-Yang; Sturm, Dominik; Korshunov, Andrey; Jones, David T W; Witt, Hendrik; Kool, Marcel; Albrecht, Steffen; Fleming, Adam; Hadjadj, Djihad; Busche, Stephan; Lepage, Pierre; Montpetit, Alexandre; Staffa, Alfredo; Gerges, Noha; Zakrzewska, Magdalena; Zakrzewski, Krzystof; Liberski, Pawel P; Hauser, Peter; Garami, Miklos; Klekner, Almos; Bognar, Laszlo; Zadeh, Gelareh; Faury, Damien; Pfister, Stefan M; Jabado, Nada; Majewski, Jacek

Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy

难治性缺铁性贫血:表现为高铁蛋白血症及对口服铁剂治疗的反应

Khuong-Quang, Dong-Anh; Schwartzentruber, Jeremy; Westerman, Mark; Lepage, Pierre; Finberg, Karin E; Majewski, Jacek; Jabado, Nada

K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas

组蛋白H3.3中的K27M突变定义了临床和生物学上不同的儿童弥漫性内生性脑桥胶质瘤亚组

Khuong-Quang, Dong-Anh; Buczkowicz, Pawel; Rakopoulos, Patricia; Liu, Xiao-Yang; Fontebasso, Adam M; Bouffet, Eric; Bartels, Ute; Albrecht, Steffen; Schwartzentruber, Jeremy; Letourneau, Louis; Bourgey, Mathieu; Bourque, Guillaume; Montpetit, Alexandre; Bourret, Genevieve; Lepage, Pierre; Fleming, Adam; Lichter, Peter; Kool, Marcel; von Deimling, Andreas; Sturm, Dominik; Korshunov, Andrey; Faury, Damien; Jones, David T; Majewski, Jacek; Pfister, Stefan M; Jabado, Nada; Hawkins, Cynthia

A white spruce gene catalog for conifer genome analyses

用于针叶树基因组分析的白云杉基因目录

Rigault, Philippe; Boyle, Brian; Lepage, Pierre; Cooke, Janice E K; Bousquet, Jean; MacKay, John J