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

NOTCH1 reverses immune suppression in small cell lung cancer through reactivation of STING

NOTCH1通过重新激活STING逆转小细胞肺癌中的免疫抑制。

Kim, Yoo Sun; Nabet, Barzin Y; Cortez, Briana N; Sun, Nai-Yun; Sebastian, Robin; Redon, Christophe E; Ray, Anagh; Liu, Liang; Ishola, Afeez A; Loew, Sarah; Dhall, Anjali; Sindiri, Sivasish; Gayevskiy, Velimir; Lee, Min-Jung; Rastogi, Shraddha; Sato, Nahoko; Kedei, Noemi; Andresson, Thorkell; Das, Sudipto; Kumar, Suresh; Bers, Alan E; Zhang, Hongliang; Chiappori, Alberto; Gopal, Priyanka; Abazeed, Mohamed E; Chen, Haobin; Aladjem, Mirit I; Pommier, Yves; Velez, Moises J; Shames, David S; Roper, Nitin

Early immune pressure initiated by tissue-resident memory T cells sculpts tumor evolution in non-small cell lung cancer

组织驻留记忆 T 细胞引发的早期免疫压力决定非小细胞肺癌的肿瘤演变

Clare E Weeden, Velimir Gayevskiy, Claire Marceaux, Daniel Batey, Tania Tan, Kenta Yokote, Nina Tubau Ribera, Allison Clatch, Susan Christo, Charis E Teh, Andrew J Mitchell, Marie Trussart, Lucille Rankin, Andreas Obers, Jackson A McDonald, Kate D Sutherland, Varun J Sharma, Graham Starkey, Rohit D'

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications

Introme能够准确预测编码和非编码变异对基因剪接的影响,并具有临床应用价值。

Sullivan, Patricia J; Gayevskiy, Velimir; Davis, Ryan L; Wong, Marie; Mayoh, Chelsea; Mallawaarachchi, Amali; Hort, Yvonne; McCabe, Mark J; Beecroft, Sarah; Jackson, Matilda R; Arts, Peer; Dubowsky, Andrew; Laing, Nigel; Dinger, Marcel E; Scott, Hamish S; Oates, Emily; Pinese, Mark; Cowley, Mark J

Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis

利用全基因组测序进行线粒体疾病诊断

Davis, Ryan L; Kumar, Kishore R; Puttick, Clare; Liang, Christina; Ahmad, Kate E; Edema-Hildebrand, Fabienne; Park, Jin-Sung; Minoche, Andre E; Gayevskiy, Velimir; Mallawaarachchi, Amali C; Christodoulou, John; Schofield, Deborah; Dinger, Marcel E; Cowley, Mark J; Sue, Carolyn M

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

孟德尔遗传病的全外显子组和全基因组测序:诊断和卫生经济学分析

Ewans, Lisa J; Minoche, Andre E; Schofield, Deborah; Shrestha, Rupendra; Puttick, Clare; Zhu, Ying; Drew, Alexander; Gayevskiy, Velimir; Elakis, George; Walsh, Corrina; Adès, Lesley C; Colley, Alison; Ellaway, Carolyn; Evans, Carey-Anne; Freckmann, Mary-Louise; Goodwin, Linda; Hackett, Anna; Kamien, Benjamin; Kirk, Edwin P; Lipke, Michelle; Mowat, David; Palmer, Elizabeth; Rajagopalan, Sulekha; Ronan, Anne; Sachdev, Rani; Stevenson, William; Turner, Anne; Wilson, Meredith; Worgan, Lisa; Morel-Kopp, Marie-Christine; Field, Michael; Buckley, Michael F; Cowley, Mark J; Dinger, Marcel E; Roscioli, Tony

Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy

COX11 的双等位基因致病变异与婴儿期发病的线粒体脑病有关

Rocio Rius, Neal K Bennett, Kaustuv Bhattacharya, Lisa G Riley, Zafer Yüksel, Luke E Formosa, Alison G Compton, Russell C Dale, Mark J Cowley, Velimir Gayevskiy, Saeed M Al Tala, Abdulrahman A Almehery, Michael T Ryan, David R Thorburn, Ken Nakamura, John Christodoulou

Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing

多囊肾病基因组诊断:全基因组测序在实际应用中的评估

Mallawaarachchi, Amali C; Lundie, Ben; Hort, Yvonne; Schonrock, Nicole; Senum, Sarah R; Gayevskiy, Velimir; Minoche, Andre E; Hollway, Georgina; Ohnesorg, Thomas; Hinchcliffe, Marcus; Patel, Chirag; Tchan, Michel; Mallett, Andrew; Dinger, Marcel E; Rangan, Gopala; Cowley, Mark J; Harris, Peter C; Burnett, Leslie; Shine, John; Furlong, Timothy J

Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity

丹尼索瓦人、现代人类和小鼠 TNFAIP3 等位基因调节 A20 磷酸化和免疫力

Nathan W Zammit #, Owen M Siggs #, Paul E Gray, Keisuke Horikawa, David B Langley, Stacey N Walters, Stephen R Daley, Claudia Loetsch, Joanna Warren, Jin Yan Yap, Daniele Cultrone, Amanda Russell, Elisabeth K Malle, Jeanette E Villanueva, Mark J Cowley, Velimir Gayevskiy, Marcel E Dinger, Robert Bri

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome

破坏 ATN1 HX 重复基序的新生变异会导致一种可识别的非进行性神经认知综合征

Palmer, Elizabeth E; Hong, Seungbeom; Al Zahrani, Fatema; Hashem, Mais O; Aleisa, Fajr A; Jalal Ahmed, Heba M; Kandula, Tejaswi; Macintosh, Rebecca; Minoche, Andre E; Puttick, Clare; Gayevskiy, Velimir; Drew, Alexander P; Cowley, Mark J; Dinger, Marcel; Rosenfeld, Jill A; Xiao, Rui; Cho, Megan T; Yakubu, Suliat F; Henderson, Lindsay B; Guillen Sacoto, Maria J; Begtrup, Amber; Hamad, Muddathir; Shinawi, Marwan; Andrews, Marisa V; Jones, Marilyn C; Lindstrom, Kristin; Bristol, Ruth E; Kayani, Saima; Snyder, Molly; Villanueva, Marıá Mercedes; Schteinschnaider, Angeles; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Roscioli, Tony; Kirk, Edwin P; Bye, Ann; Merzaban, Jasmeen; Jaremko, Łukasz; Jaremko, Mariusz; Sachdev, Rani K; Alkuraya, Fowzan S; Arold, Stefan T

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

破坏 ATN1 HX 重复基序的新生变异会导致一种可识别的非进行性神经认知综合征

Palmer, Elizabeth E; Hong, Seungbeom; Al Zahrani, Fatema; Hashem, Mais O; Aleisa, Fajr A; Ahmed, Heba M Jalal; Kandula, Tejaswi; Macintosh, Rebecca; Minoche, Andre E; Puttick, Clare; Gayevskiy, Velimir; Drew, Alexander P; Cowley, Mark J; Dinger, Marcel; Rosenfeld, Jill A; Xiao, Rui; Cho, Megan T; Yakubu, Suliat F; Henderson, Lindsay B; Guillen Sacoto, Maria J; Begtrup, Amber; Hamad, Muddathir; Shinawi, Marwan; Andrews, Marisa V; Jones, Marilyn C; Lindstrom, Kristin; Bristol, Ruth E; Kayani, Saima; Snyder, Molly; Villanueva, María Mercedes; Schteinschnaider, Angeles; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Roscioli, Tony; Kirk, Edwin P; Bye, Ann; Merzaban, Jasmeen; Jaremko, Łukasz; Jaremko, Mariusz; Sachdev, Rani K; Alkuraya, Fowzan S; Arold, Stefan T