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

The impact of ancestral, genetic, and environmental influences on germline de novo mutation rates and spectra

祖先、遗传和环境因素对种系新生突变率和突变谱的影响

Garcia-Salinas, O Isaac; Hwang, Seongwon; Huang, Qin Qin; Sanghvi, Rashesh; Malawsky, Daniel S; Kaplanis, Joanna; Neville, Matthew D C; Day, Felix R; Rahbari, Raheleh; Scally, Aylwyn; Martin, Hilary C

Suppressing recurrence in Sonic Hedgehog subgroup medulloblastoma using the OLIG2 inhibitor CT-179

使用 OLIG2 抑制剂 CT-179 抑制 Sonic Hedgehog 亚组髓母细胞瘤的复发

Li, Yuchen; Lim, Chaemin; Dismuke, Taylor; Malawsky, Daniel S; Oasa, Sho; Bruce, Zara C; Offenhäuser, Carolin; Baumgartner, Ulrich; D'Souza, Rochelle C J; Edwards, Stacey L; French, Juliet D; Ock, Lucy S H; Nair, Sneha; Sivakumaran, Haran; Harris, Lachlan; Tikunov, Andrey P; Hwang, Duhyeong; Alicea Pauneto, Coral Del Mar; Maybury, Mellissa; Hassall, Timothy; Wainwright, Brandon; Kesari, Santosh; Stein, Gregory; Piper, Michael; Johns, Terrance G; Sokolsky-Papkov, Marina; Terenius, Lars; Vukojević, Vladana; McSwain, Leon F; Gershon, Timothy R; Day, Bryan W

Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity

在44000名具有高度纯合性的英国巴基斯坦裔和孟加拉裔人群中,常见疾病普遍存在隐性遗传效应。

Heng, Teng Hiang; Walter, Klaudia; Huang, Qin Qin; Karjalainen, Juha; Daly, Mark J; Heyne, Henrike O; Malawsky, Daniel S; Kalantzis, Georgios; Finer, Sarah; van Heel, David A; Martin, Hilary C

Examining the role of common variants in rare neurodevelopmental conditions

研究常见变异在罕见神经发育障碍中的作用

Huang, Qin Qin; Wigdor, Emilie M; Malawsky, Daniel S; Campbell, Patrick; Samocha, Kaitlin E; Chundru, V Kartik; Danecek, Petr; Lindsay, Sarah; Marchant, Thomas; Koko, Mahmoud; Amanat, Sana; Bonfanti, Davide; Sheridan, Eamonn; Radford, Elizabeth J; Barrett, Jeffrey C; Wright, Caroline F; Firth, Helen V; Warrier, Varun; Strudwick Young, Alexander; Hurles, Matthew E; Martin, Hilary C

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations

对来自不同人群的 29,745 名发育障碍患者的常染色体隐性编码变异进行联合分析

Chundru, V Kartik; Zhang, Zhancheng; Walter, Klaudia; Lindsay, Sarah J; Danecek, Petr; Eberhardt, Ruth Y; Gardner, Eugene J; Malawsky, Daniel S; Wigdor, Emilie M; Torene, Rebecca; Retterer, Kyle; Wright, Caroline F; Ólafsdóttir, Hildur; Guillen Sacoto, Maria J; Ayaz, Akif; Akbeyaz, Ismail Hakki; Türkdoğan, Dilşad; Al Balushi, Aaisha Ibrahim; Bertoli-Avella, Aida; Bauer, Peter; Szenker-Ravi, Emmanuelle; Reversade, Bruno; McWalter, Kirsty; Sheridan, Eamonn; Firth, Helen V; Hurles, Matthew E; Samocha, Kaitlin E; Ustach, Vincent D; Martin, Hilary C

Mortality, morbidity and educational outcomes in children of consanguineous parents in the Born in Bradford cohort

布拉德福德出生队列中近亲结婚父母子女的死亡率、发病率和教育成果

Small, Neil; Kelly, Brian; Malawsky, Daniel S; Lodh, Rajib; Oddie, Sam; Wright, John

Influence of autozygosity on common disease risk across the phenotypic spectrum

纯合性对表型谱系中常见疾病风险的影响

Malawsky, Daniel S; van Walree, Eva; Jacobs, Benjamin M; Heng, Teng Hiang; Huang, Qin Qin; Sabir, Ataf H; Rahman, Saadia; Sharif, Saghira Malik; Khan, Ahsan; Mirkov, Maša Umićević; Kuwahara, Hiroyuki; Gao, Xin; Alkuraya, Fowzan S; Posthuma, Danielle; Newman, William G; Griffiths, Christopher J; Mathur, Rohini; van Heel, David A; Finer, Sarah; O'Connell, Jared; Martin, Hilary C

PRC2 disruption in cerebellar progenitors produces cerebellar hypoplasia and aberrant myoid differentiation without blocking medulloblastoma growth

小脑祖细胞中的 PRC2 破坏会导致小脑发育不全和异常肌样分化,而不会阻止髓母细胞瘤的生长

Abigail H Cleveland #, Daniel Malawsky #, Mehal Churiwal, Claudia Rodriguez, Frances Reed, Matthew Schniederjan, Jose E Velazquez Vega, Ian Davis, Timothy R Gershon

Chronic AMPK inactivation slows SHH medulloblastoma progression by inhibiting mTORC1 signaling and depleting tumor stem cells

慢性 AMPK 失活通过抑制 mTORC1 信号传导和消耗肿瘤干细胞来减缓 SHH 髓母细胞瘤进展

Daniel Shiloh Malawsky, Taylor Dismuke, Hedi Liu, Ethan Castellino, Jay Brenman, Biplab Dasgupta, Andrey Tikunov, Timothy R Gershon

A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization

严重脊髓性肌萎缩症患者YG盒结构域纯合错义变异:病例报告及变异特征分析

Li, Leping; Perera, Lalith; Varghese, Sonia A; Shiloh-Malawsky, Yael; Hunter, Senyene E; Sneddon, Tam P; Powell, Cynthia M; Matera, A Gregory; Fan, Zheng