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

HostSeq: a Canadian whole genome sequencing and clinical data resource

HostSeq:加拿大全基因组测序和临床数据资源

Yoo, S; Garg, E; Elliott, L T; Hung, R J; Halevy, A R; Brooks, J D; Bull, S B; Gagnon, F; Greenwood, Cmt; Lawless, J F; Paterson, A D; Sun, L; Zawati, M H; Lerner-Ellis, J; Abraham, Rjs; Birol, I; Bourque, G; Garant, J-M; Gosselin, C; Li, J; Whitney, J; Thiruvahindrapuram, B; Herbrick, J-A; Lorenti, M; Reuter, M S; Adeoye, O O; Liu, S; Allen, U; Bernier, F P; Biggs, C M; Cheung, A M; Cowan, J; Herridge, M; Maslove, D M; Modi, B P; Mooser, V; Morris, S K; Ostrowski, M; Parekh, R S; Pfeffer, G; Suchowersky, O; Taher, J; Upton, J; Warren, R L; Yeung, Rsm; Aziz, N; Turvey, S E; Knoppers, B M; Lathrop, M; Jones, Sjm; Scherer, S W; Strug, L J

Genomic architecture of autism from comprehensive whole-genome sequence annotation

基于全基因组序列注释的自闭症基因组结构

Trost, Brett; Thiruvahindrapuram, Bhooma; Chan, Ada J S; Engchuan, Worrawat; Higginbotham, Edward J; Howe, Jennifer L; Loureiro, Livia O; Reuter, Miriam S; Roshandel, Delnaz; Whitney, Joe; Zarrei, Mehdi; Bookman, Matthew; Somerville, Cherith; Shaath, Rulan; Abdi, Mona; Aliyev, Elbay; Patel, Rohan V; Nalpathamkalam, Thomas; Pellecchia, Giovanna; Hamdan, Omar; Kaur, Gaganjot; Wang, Zhuozhi; MacDonald, Jeffrey R; Wei, John; Sung, Wilson W L; Lamoureux, Sylvia; Hoang, Ny; Selvanayagam, Thanuja; Deflaux, Nicole; Geng, Melissa; Ghaffari, Siavash; Bates, John; Young, Edwin J; Ding, Qiliang; Shum, Carole; D'Abate, Lia; Bradley, Clarrisa A; Rutherford, Annabel; Aguda, Vernie; Apresto, Beverly; Chen, Nan; Desai, Sachin; Du, Xiaoyan; Fong, Matthew L Y; Pullenayegum, Sanjeev; Samler, Kozue; Wang, Ting; Ho, Karen; Paton, Tara; Pereira, Sergio L; Herbrick, Jo-Anne; Wintle, Richard F; Fuerth, Jonathan; Noppornpitak, Juti; Ward, Heather; Magee, Patrick; Al Baz, Ayman; Kajendirarajah, Usanthan; Kapadia, Sharvari; Vlasblom, Jim; Valluri, Monica; Green, Joseph; Seifer, Vicki; Quirbach, Morgan; Rennie, Olivia; Kelley, Elizabeth; Masjedi, Nina; Lord, Catherine; Szego, Michael J; Zawati, Ma'n H; Lang, Michael; Strug, Lisa J; Marshall, Christian R; Costain, Gregory; Calli, Kristina; Iaboni, Alana; Yusuf, Afiqah; Ambrozewicz, Patricia; Gallagher, Louise; Amaral, David G; Brian, Jessica; Elsabbagh, Mayada; Georgiades, Stelios; Messinger, Daniel S; Ozonoff, Sally; Sebat, Jonathan; Sjaarda, Calvin; Smith, Isabel M; Szatmari, Peter; Zwaigenbaum, Lonnie; Kushki, Azadeh; Frazier, Thomas W; Vorstman, Jacob A S; Fakhro, Khalid A; Fernandez, Bridget A; Lewis, M E Suzanne; Weksberg, Rosanna; Fiume, Marc; Yuen, Ryan K C; Anagnostou, Evdokia; Sondheimer, Neal; Glazer, David; Hartley, Dean M; Scherer, Stephen W

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants

加拿大个人基因组计划:首批56名参与者的全基因组序列研究结果

Reuter, Miriam S; Walker, Susan; Thiruvahindrapuram, Bhooma; Whitney, Joe; Cohn, Iris; Sondheimer, Neal; Yuen, Ryan K C; Trost, Brett; Paton, Tara A; Pereira, Sergio L; Herbrick, Jo-Anne; Wintle, Richard F; Merico, Daniele; Howe, Jennifer; MacDonald, Jeffrey R; Lu, Chao; Nalpathamkalam, Thomas; Sung, Wilson W L; Wang, Zhuozhi; Patel, Rohan V; Pellecchia, Giovanna; Wei, John; Strug, Lisa J; Bell, Sherilyn; Kellam, Barbara; Mahtani, Melanie M; Bassett, Anne S; Bombard, Yvonne; Weksberg, Rosanna; Shuman, Cheryl; Cohn, Ronald D; Stavropoulos, Dimitri J; Bowdin, Sarah; Hildebrandt, Matthew R; Wei, Wei; Romm, Asli; Pasceri, Peter; Ellis, James; Ray, Peter; Meyn, M Stephen; Monfared, Nasim; Hosseini, S Mohsen; Joseph-George, Ann M; Keeley, Fred W; Cook, Ryan A; Fiume, Marc; Lee, Hin C; Marshall, Christian R; Davies, Jill; Hazell, Allison; Buchanan, Janet A; Szego, Michael J; Scherer, Stephen W

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

非编码基因RNU4ATAC的复合杂合突变会破坏次要内含子的剪接,从而导致罗伊夫曼综合征。

Merico, Daniele; Roifman, Maian; Braunschweig, Ulrich; Yuen, Ryan K C; Alexandrova, Roumiana; Bates, Andrea; Reid, Brenda; Nalpathamkalam, Thomas; Wang, Zhuozhi; Thiruvahindrapuram, Bhooma; Gray, Paul; Kakakios, Alyson; Peake, Jane; Hogarth, Stephanie; Manson, David; Buncic, Raymond; Pereira, Sergio L; Herbrick, Jo-Anne; Blencowe, Benjamin J; Roifman, Chaim M; Scherer, Stephen W

A high-resolution copy-number variation resource for clinical and population genetics

用于临床和群体遗传学的高分辨率拷贝数变异资源

Uddin, Mohammed; Thiruvahindrapuram, Bhooma; Walker, Susan; Wang, Zhuozhi; Hu, Pingzhao; Lamoureux, Sylvia; Wei, John; MacDonald, Jeffrey R; Pellecchia, Giovanna; Lu, Chao; Lionel, Anath C; Gazzellone, Matthew J; McLaughlin, John R; Brown, Catherine; Andrulis, Irene L; Knight, Julia A; Herbrick, Jo-Anne; Wintle, Richard F; Ray, Peter; Stavropoulos, Dimitri J; Marshall, Christian R; Scherer, Stephen W