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

Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study

BabyScreen+ 基因组新生儿筛查研究的可行性、可接受性和临床结果

Lunke, Sebastian; Downie, Lilian; Caruana, Jade; Kugenthiran, Nathasha; De Fazio, Paul; Hollizeck, Sebastian; Bouffler, Sophie E; Amor, David J; Archibald, Alison D; Bombard, Yvonne; Christodoulou, John; Clausen, Marc; Fagan, Wendy; Gaff, Clara; Greaves, Ronda F; Gyngell, Christopher; Kanga-Parabia, Anaita; Lang, Nitzan; Lee, Crystle; Lynch, Fiona; Marty, Anthony; Marty, Melanie; McGregor, Candice; Riseley, Jessica; Sadedin, Simon; Scarff, Katrina; da Cunha Torres, Michelle; Tutty, Erin; Vang, Ching; Wall, Meaghan; Wong, Ee Ming; Yeung, Alison; Goranitis, Ilias; Best, Stephanie; Vears, Danya F; Stark, Zornitza

Unravelling mutational signatures with plasma circulating tumour DNA

利用血浆循环肿瘤DNA揭示突变特征

Hollizeck, Sebastian; Wang, Ning; Wong, Stephen Q; Litchfield, Cassandra; Guinto, Jerick; Ftouni, Sarah; Rebello, Richard; Kanwal, Sehrish; Dong, Ruining; Grimmond, Sean; Sandhu, Shahneen; Mileshkin, Linda; Tothill, Richard W; Chandrananda, Dineika; Dawson, Sarah-Jane

Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol

前瞻性队列研究:新生儿基因组筛查:BabyScreen+试点研究方案

Lunke, Sebastian; Bouffler, Sophie E; Downie, Lilian; Caruana, Jade; Amor, David J; Archibald, Alison; Bombard, Yvonne; Christodoulou, John; Clausen, Marc; De Fazio, Paul; Greaves, Ronda F; Hollizeck, Sebastian; Kanga-Parabia, Anaita; Lang, Nitzan; Lynch, Fiona; Peters, Riccarda; Sadedin, Simon; Tutty, Erin; Eggers, Stefanie; Lee, Crystle; Wall, Meaghan; Yeung, Alison; Gaff, Clara; Gyngell, Christopher; Vears, Danya F; Best, Stephanie; Goranitis, Ilias; Stark, Zornitza

Valosin-containing protein-regulated endoplasmic reticulum stress causes NOD2-dependent inflammatory responses

含缬氨酸蛋白调控的内质网应激引起NOD2依赖性炎症反应

Maryam Ghalandary # ,Yue Li # ,Thomas Fröhlich ,Thomas Magg ,Yanshan Liu ,Meino Rohlfs ,Sebastian Hollizeck ,Raffaele Conca ,Tobias Schwerd ,Holm H Uhlig ,Philip Bufler ,Sibylle Koletzko ,Aleixo M Muise ,Scott B Snapper ,Fabian Hauck ,Christoph Klein ,Daniel Kotlarz

RET Solvent Front Mutations Mediate Acquired Resistance to Selective RET Inhibition in RET-Driven Malignancies

RET 溶剂前沿突变介导 RET 驱动的恶性肿瘤对选择性 RET 抑制产生获得性耐药性

Benjamin J Solomon, Lavinia Tan, Jessica J Lin, Stephen Q Wong, Sebastian Hollizeck, Kevin Ebata, Brian B Tuch, Satoshi Yoda, Justin F Gainor, Lecia V Sequist, Geoffrey R Oxnard, Oliver Gautschi, Alexander Drilon, Vivek Subbiah, Christine Khoo, Edward Y Zhu, Michele Nguyen, Dahlia Henry, Kevin R Con

Author Correction: Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells

作者更正:人类FCHO1缺陷揭示了网格蛋白介导的内吞作用在T细胞发育和功能中的作用

Łyszkiewicz, Marcin; Ziętara, Natalia; Frey, Laura; Pannicke, Ulrich; Stern, Marcel; Liu, Yanshan; Fan, Yanxin; Puchałka, Jacek; Hollizeck, Sebastian; Somekh, Ido; Rohlfs, Meino; Yilmaz, Tuğba; Ünal, Ekrem; Karakukcu, Musa; Patiroğlu, Türkan; Kellerer, Christina; Karasu, Ebru; Sykora, Karl-Walter; Lev, Atar; Simon, Amos; Somech, Raz; Roesler, Joachim; Hoenig, Manfred; Keppler, Oliver T; Schwarz, Klaus; Klein, Christoph

Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells

人类 FCHO1 缺陷揭示网格蛋白介导的内吞作用在 T 细胞发育和功能中的作用

Marcin Łyszkiewicz #, Natalia Ziętara #, Laura Frey, Ulrich Pannicke, Marcel Stern, Yanshan Liu, Yanxin Fan, Jacek Puchałka, Sebastian Hollizeck, Ido Somekh, Meino Rohlfs, Tuğba Yilmaz, Ekrem Ünal, Musa Karakukcu, Türkan Patiroğlu, Christina Kellerer, Ebru Karasu, Karl-Walter Sykora, Atar Lev, Amos

NOX1 Regulates Collective and Planktonic Cell Migration: Insights From Patients With Pediatric-Onset IBD and NOX1 Deficiency

NOX1调控细胞集体迁移和浮游细胞迁移:来自儿童期发病IBD合并NOX1缺陷患者的启示

Khoshnevisan, Razieh; Anderson, Michael; Babcock, Stephen; Anderson, Sierra; Illig, David; Marquardt, Benjamin; Sherkat, Roya; Schröder, Katrin; Moll, Franziska; Hollizeck, Sebastian; Rohlfs, Meino; Walz, Christoph; Adibi, Peyman; Rezaei, Abbas; Andalib, Alireza; Koletzko, Sibylle; Muise, Aleixo M; Snapper, Scott B; Klein, Christoph; Thiagarajah, Jay R; Kotlarz, Daniel

An Evolutionarily Conserved Function of Polycomb Silences the MHC Class I Antigen Presentation Pathway and Enables Immune Evasion in Cancer

Polycomb蛋白的进化保守功能可抑制MHC I类抗原呈递途径,从而使癌细胞逃避免疫攻击。

Marian L Burr ,Christina E Sparbier ,Kah Lok Chan ,Yih-Chih Chan ,Ariena Kersbergen ,Enid Y N Lam ,Elizabeth Azidis-Yates ,Dane Vassiliadis ,Charles C Bell ,Omer Gilan ,Susan Jackson ,Lavinia Tan ,Stephen Q Wong ,Sebastian Hollizeck ,Ewa M Michalak ,Hannah V Siddle ,Michael T McCabe ,Rab K Prinjha ,Glen R Guerra ,Benjamin J Solomon ,Shahneen Sandhu ,Sarah-Jane Dawson ,Paul A Beavis ,Richard W Tothill ,Carleen Cullinane ,Paul J Lehner ,Kate D Sutherland ,Mark A Dawson

Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases

人类RIPK1缺陷会导致联合免疫缺陷和炎症性肠病

Li, Yue; Führer, Marita; Bahrami, Ehsan; Socha, Piotr; Klaudel-Dreszler, Maja; Bouzidi, Amira; Liu, Yanshan; Lehle, Anna S; Magg, Thomas; Hollizeck, Sebastian; Rohlfs, Meino; Conca, Raffaele; Field, Michael; Warner, Neil; Mordechai, Slae; Shteyer, Eyal; Turner, Dan; Boukari, Rachida; Belbouab, Reda; Walz, Christoph; Gaidt, Moritz M; Hornung, Veit; Baumann, Bernd; Pannicke, Ulrich; Al Idrissi, Eman; Ali Alghamdi, Hamza; Sepulveda, Fernando E; Gil, Marine; de Saint Basile, Geneviève; Hönig, Manfred; Koletzko, Sibylle; Muise, Aleixo M; Snapper, Scott B; Schwarz, Klaus; Klein, Christoph; Kotlarz, Daniel