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

Deep structure-function analysis of the endonuclease Mus81 with dominant mutational scanning.

利用显性突变扫描对核酸内切酶 Mus81 进行深度结构-功能分析

Oppedisano Anthony, Bailey Melanie L, Kumar Arun, O'Neil Nigel J, Stirling Peter C, Hieter Philip

Global partnerships in rare disease research

罕见病研究领域的全球伙伴关系

Rogic, Sanja; Poirier-Morency, Guillaume; Hieter, Philip; Pavlidis, Paul

ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research

ModelMatcher:一个以科学家为中心的在线平台,旨在促进罕见病和未确诊疾病研究领域利益相关者之间的合作

Harnish, J Michael; Li, Lucian; Rogic, Sanja; Poirier-Morency, Guillaume; Kim, Seon-Young; Boycott, Kym M; Wangler, Michael F; Bellen, Hugo J; Hieter, Philip; Pavlidis, Paul; Liu, Zhandong; Yamamoto, Shinya

A nuclear proteome localization screen reveals the exquisite specificity of Gpn2 in RNA polymerase biogenesis

核蛋白质组定位筛选揭示了Gpn2在RNA聚合酶生物合成中的精细特异性

Minaker, Sean W; Kofoed, Megan C; Hieter, Philip; Stirling, Peter C

The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms

加拿大罕见病模型与机制(RDMM)网络:将研究不足的基因与模式生物联系起来

Boycott, Kym M; Campeau, Philippe M; Howley, Heather E; Pavlidis, Paul; Rogic, Sanja; Oriel, Christine; Berman, Jason N; Hamilton, Robert M; Hicks, Geoffrey G; Lipshitz, Howard D; Masson, Jean-Yves; Shoubridge, Eric A; Junker, Anne; Leroux, Michel R; McMaster, Christopher R; Michaud, Jaques L; Turvey, Stuart E; Dyment, David; Innes, A Micheil; van Karnebeek, Clara D; Lehman, Anna; Cohn, Ronald D; MacDonald, Ian M; Rachubinski, Richard A; Frosk, Patrick; Vandersteen, Anthony; Wozniak, Richard W; Pena, Izabella A; Wen, Xiao-Yan; Lacaze-Masmonteil, Thierry; Rankin, Catharine; Hieter, Philip

MinION-based long-read sequencing and assembly extends the Caenorhabditis elegans reference genome

基于MinION的长读长测序和组装扩展了秀丽隐杆线虫的参考基因组

Tyson, John R; O'Neil, Nigel J; Jain, Miten; Olsen, Hugh E; Hieter, Philip; Snutch, Terrance P

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

国际合作助力罕见遗传疾病的诊断

Boycott, Kym M; Rath, Ana; Chong, Jessica X; Hartley, Taila; Alkuraya, Fowzan S; Baynam, Gareth; Brookes, Anthony J; Brudno, Michael; Carracedo, Angel; den Dunnen, Johan T; Dyke, Stephanie O M; Estivill, Xavier; Goldblatt, Jack; Gonthier, Catherine; Groft, Stephen C; Gut, Ivo; Hamosh, Ada; Hieter, Philip; Höhn, Sophie; Hurles, Matthew E; Kaufmann, Petra; Knoppers, Bartha M; Krischer, Jeffrey P; Macek, Milan Jr; Matthijs, Gert; Olry, Annie; Parker, Samantha; Paschall, Justin; Philippakis, Anthony A; Rehm, Heidi L; Robinson, Peter N; Sham, Pak-Chung; Stefanov, Rumen; Taruscio, Domenica; Unni, Divya; Vanstone, Megan R; Zhang, Feng; Brunner, Han; Bamshad, Michael J; Lochmüller, Hanns

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

模式生物有助于罕见病诊断和治疗研究

Wangler, Michael F; Yamamoto, Shinya; Chao, Hsiao-Tuan; Posey, Jennifer E; Westerfield, Monte; Postlethwait, John; Hieter, Philip; Boycott, Kym M; Campeau, Philippe M; Bellen, Hugo J

Dosage Mutator Genes in Saccharomyces cerevisiae: A Novel Mutator Mode-of-Action of the Mph1 DNA Helicase

酿酒酵母中的剂量突变基因:Mph1 DNA解旋酶的新型突变作用模式

Ang, J Sidney; Duffy, Supipi; Segovia, Romulo; Stirling, Peter C; Hieter, Philip

Mechanisms of genome instability induced by RNA-processing defects

RNA加工缺陷诱导基因组不稳定的机制

Chan, Yujia A; Hieter, Philip; Stirling, Peter C