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

Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing

评估血液转录组分析对先前已通过基因组测序评估的儿科队列的诊断价值

Hou, Huayun; Yuki, Kyoko E; Costain, Gregory; Szuto, Anna; Barnes, Sierra; Ramani, Arun K; Celik, Alper; Braga, Michael; Gloven-Brown, Meagan; Stavropoulos, Dimitri J; Bowdin, Sarah; Cohn, Ronald D; Mendoza-Londono, Roberto; Scherer, Stephen W; Brudno, Michael; Marshall, Christian R; Stephen Meyn, M; Shlien, Adam; Dowling, James J; Wilson, Michael D; Kyriakopoulou, Lianna

Benefits for children with suspected cancer from routine whole-genome sequencing

常规全基因组测序对疑似癌症儿童的益处

Hodder, Angus; Leiter, Sarah M; Kennedy, Jonathan; Addy, Dilys; Ahmed, Munaza; Ajithkumar, Thankamma; Allinson, Kieren; Ancliff, Phil; Bailey, Shivani; Barnard, Gemma; Burke, G A Amos; Burns, Charlotte; Cano-Flanagan, Julian; Chalker, Jane; Coleman, Nicholas; Cheng, Danny; Clinch, Yasmin; Dryden, Caryl; Ghorashian, Sara; Griffin, Blanche; Horan, Gail; Hubank, Michael; May, Phillippa; McDerra, Joanna; Nagrecha, Rajvi; Nicholson, James; O'Connor, David; Pavasovic, Vesna; Quaegebeur, Annelies; Rao, Anupama; Roberts, Thomas; Samarasinghe, Sujith; Stasevich, Iryna; Tadross, John A; Trayers, Claire; Trotman, Jamie; Vora, Ajay; Watkins, James; Chitty, Lyn S; Bowdin, Sarah; Armstrong, Ruth; Murray, Matthew J; Hook, Catherine E; Tarpey, Patrick; Vedi, Aditi; Bartram, Jack; Behjati, Sam

Advancing diagnosis and research for rare genetic diseases in Indigenous peoples

推进原住民罕见遗传疾病的诊断和研究

Baynam, Gareth; Julkowska, Daria; Bowdin, Sarah; Hermes, Azure; McMaster, Christopher R; Prichep, Elissa; Richer, Étienne; van der Westhuizen, Francois H; Repetto, Gabriela M; Malherbe, Helen; Reichardt, Juergen K V; Arbour, Laura; Hudson, Maui; du Plessis, Kelly; Haendel, Melissa; Wilcox, Phillip; Lynch, Sally Ann; Rind, Shamir; Easteal, Simon; Estivill, Xavier; Caron, Nadine; Chongo, Meck; Thomas, Yarlalu; Letinturier, Mary Catherine V; Vorster, Barend Christiaan

Identifying barriers and opportunities to facilitate the uptake of whole genome sequencing in paediatric haematology and oncology practice

识别儿科血液学和肿瘤学实践中推广全基因组测序的障碍和机遇

Bishop, Michelle; Vedi, Aditi; Bowdin, Sarah; Armstrong, Ruth; Bartram, Jack; Bentley, David; Ross, Mark; Hook, C Elizabeth; Yin Chung, Brian Hon; Moss, Parker; Rowitch, David H; Tarpey, Patrick; Behjati, Sam; Murray, Matthew J

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

NR2F2基因的杂合罕见变异会导致一种可识别的多发性先天性异常综合征,并伴有发育迟缓。

Ganapathi, Mythily; Matsuoka, Leticia S; March, Michael; Li, Dong; Brokamp, Elly; Benito-Sanz, Sara; White, Susan M; Lachlan, Katherine; Ahimaz, Priyanka; Sewda, Anshuman; Bastarache, Lisa; Thomas-Wilson, Amanda; Stoler, Joan M; Bramswig, Nuria C; Baptista, Julia; Stals, Karen; Demurger, Florence; Cogne, Benjamin; Isidor, Bertrand; Bedeschi, Maria Francesca; Peron, Angela; Amiel, Jeanne; Zackai, Elaine; Schacht, John P; Iglesias, Alejandro D; Morton, Jenny; Schmetz, Ariane; Seidel, Verónica; Lucia, Stephanie; Baskin, Stephanie M; Thiffault, Isabelle; Cogan, Joy D; Gordon, Christopher T; Chung, Wendy K; Bowdin, Sarah; Bhoj, Elizabeth

The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease

心脏基因组诊所:在儿科心脏病中应用基因组测序

Reuter, Miriam S; Chaturvedi, Rajiv R; Liston, Eriskay; Manshaei, Roozbeh; Aul, Ritu B; Bowdin, Sarah; Cohn, Iris; Curtis, Meredith; Dhir, Priya; Hayeems, Robin Z; Hosseini, S Mohsen; Khan, Reem; Ly, Linh G; Marshall, Christian R; Mertens, Luc; Okello, John B A; Pereira, Sergio L; Raajkumar, Akshaya; Seed, Mike; Thiruvahindrapuram, Bhooma; Scherer, Stephen W; Kim, Raymond H; Jobling, Rebekah K

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

全基因组测序显示,重症儿童中遗传疾病很常见。

French, Courtney E; Delon, Isabelle; Dolling, Helen; Sanchis-Juan, Alba; Shamardina, Olga; Mégy, Karyn; Abbs, Stephen; Austin, Topun; Bowdin, Sarah; Branco, Ricardo G; Firth, Helen; Rowitch, David H; Raymond, F Lucy

Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis

通过全外显子组测序诊断一名患有肺毛细血管炎的儿童患有脯氨酸酶缺乏症

Rayment, Jonathan H; Jobling, Rebekah; Bowdin, Sarah; Cutz, Ernest; Dell, Sharon D

Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

对已报道的猝死相关基因进行重新评估:基于证据的布鲁加达综合征基因有效性评估

Hosseini, S Mohsen; Kim, Raymond; Udupa, Sharmila; Costain, Gregory; Jobling, Rebekah; Liston, Eriskay; Jamal, Seema M; Szybowska, Marta; Morel, Chantal F; Bowdin, Sarah; Garcia, John; Care, Melanie; Sturm, Amy C; Novelli, Valeria; Ackerman, Michael J; Ware, James S; Hershberger, Ray E; Wilde, Arthur A M; Gollob, Michael H

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